Molecular Tests (Ordered by Gene)

分子检测 (按基因排序)

除comment列中有特别标记的分子分析外,检测的主要是编码蛋白质序列。

提示:如果在按字母排序的列表中,没有找到你感兴趣的疾病或基因,你可以使用Ctrl-F键搜索整个列表。



A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

A

Gene
Gene OMIM
Disease
Disease OMIM
Comment

AAAS (ALADIN, ADRACALIN)

605378

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

 

ABCA4 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ABCR)

601691

STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1

248200  

MACULAR DEGENERATION, AGE-RELATED, TYPE 2
» MACULOPATHY, AGE-RELATED, TYPE  2
» MACULAR DEGENERATION, SENILE

153800  
RETINITIS PIGMENTOSA 19, RP19 601718  
CONE-ROD DYSTROPHY, TYPE 3, CORD3 604116  

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800

ICHTHYOSIS, LAMELLAR, 2, LI2
» LAMELLAR ICHTHYOSIS, TYPE 2
» ICHTHYOSIS CONGENITA 2B

601277 5 Exons: 28-32

ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
» HARLEQUIN ICHTHYOSIS

242500 Whole Gene

ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1)

600509 

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

256450  
DIABETES MELLITUS, PERMANENT NEONATAL 606176  

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

300135 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310 .
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) 603234 PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)
264800 . 
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL DOMINANT)
177850 . 
ABCD1 300371 ADRENOLEUKODYSTROPHY, ALD
» ADRENOMYELONEUROPATHY, AMN
300100 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes

ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)

604773

ISOBUTYRYL GLYCINURIA
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
» ACAD8 DEFICIENCY

604773

.

ACADM

607008

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD

201450

Whole Gene or 1 Mutation: K329E

ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) 606885

 

D DEFICIENCY
» SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY

201470 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes

ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)

600301

2-ALPHA-METHYLBUTYRYLGLYCINURIA
» 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD

600301

.

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

609575  ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475 .

ACTA1  (ACTIN)

102610

ACTIN MYOPATHY 

102610

.

NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1

161800

.

NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2

256030

.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255310  

ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN)

 
102540 DILATED CARDIOMYOPATHY   See ACTC, MYL2 and MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

192600  See ACTC, MYL2 and MYL3

ACTC
MYL2
MYL3

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

  19 Exons
ACTN4 (ACTININ, ALPHA-4) 604638 FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278  

ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE)

608958

SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, SCID

102700  
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)
604134 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL, TTP
» SCHULMAN-UPSHAW SYNDROME
274150 . 
HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
235400 . 
ADSL (ADENYLOSUCCINATE LYASE)
103050 ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM
103050 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860 GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY
232400  

AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)

604285

HYPEROXALURIA, PRIMARY, TYPE 1
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
» HEPATIC AGT DEFICIENCY
» SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY

259900 Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)
AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)
608894  JOUBERT SYNDROME 3, JBTS3 608629  

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

605257

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
» HYPER-IgM SYNDROME 2

605258  
AICDA, CD40, CD40LG, UNG IMMUNODEFICIENCY WITH HYPER-IgM
» HYPER-IgM SYNDROME
.  

AIRE (AUTOIMMUNE REGULATOR)

607358

AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
» POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE

240300

Whole Gene
or
2 Common Mutations: R257X and 1094DEL13

ALDOB (ALDOLASE B) 229600 FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY
229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K
ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1) 601284 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2
» OSLER-RENDU-WEBER DISEASE, TYPE 2
» ORW DISEASE
, TYPE 2
600376  
ALMS1 606844  ALSTROM SYNDROME, ALMS 203800 Exons 10, 16, and part of Exon 8

ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)

603741 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,  LIPOXYGENASE TYPE 3)

607206 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF)

605420

PARIETAL FORAMINA, TYPE 2
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

609597  

AMPD1  (AMP DEAMINASE)

102770

MYOADENYLATE DEAMINASE DEFICIENCY 

102770

2 Mutations: Q12X, P48L

AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) 238310

NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY

605899  

ANG (ANGIOGENIN, RNASE5)

105850 AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 105400  

ANGELMAN

..

See UBE3A 

.

.

ANTITRYPSINE

..

See PI 

.

.

APC

175100

POLYPOSIS COLI, ADENOMATOUS 
» FAMILIAL ADENOMATOUS POLYPOSIS, FAP
» ATTENUATED POLYPOSIS COLI 

175100

Whole Gene or MLPA for Deletions-Duplications

APOA1 (APOLIPOPROTEIN A-1)

107680

HYPO-ALPHALIPOPROTEINEMIA 

604091

L178P Mutation

APOB (APOLIPOPROTEIN B, APOB100,
APOB48)
 

107730

 

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE

144010

2 Mutations: R3500Q  and R3531C

HYPERCHOLESTEROLEMIA

143890

3 mutations: R3500Q, R3500W, H3543Y

HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA
107730 Whole Gene

APOC2 (APOLIPOPROTEIN C2)

207750

HYPERCHYLOMICRONEMIA

207750

.

APOE (APOLIPOPROTEIN E)
107741 DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA
107741 .

APP

104760

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1

104300

Whole Gene or Exons 16 and 17 harbouring the majority of mutations

CEREBRAL AMYLOID ANGIOPATHY 
» AMYLOIDOSIS, CEREBROARTERIAL 
» AMYLOIDOSIS 6 
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY

105150

Whole Gene or Exons 16 and 17 harbouring the majority of mutations

APTX (APRATAXIN)
606350  ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
208920  
AQP2 (AQUAPORIN 2)
 
107777 DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 . 
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 . 

AR  (ANDROGEN RECEPTOR)

313700

ANDROGEN INSENSITIVITY SYNDROME, AIS

300068

.

REIFENSTEIN SYNDROME 

312300

.

HYPOSPADIAS (X-LINKED) 

.

.

KENNEDY DISEASE 
» SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA

313200

Repeat

ARH 605747 HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 . 

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2

602078

.

ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE)  607574 

METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY

250100  
PSEUDOARYLSULFATASE A DEFICIENCY 250100  
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) 253200 MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
» N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
253200 . 

ARSC1  (STEROID SULFATASE, STS)

308100

ICHTHYOSIS (X-LINKED) 
» STEROID SULFATASE DEFICIENCY 

308100

Deletion

ARX

300382

INFANTILE SPASMS (X-LINKED), ISS X 
» WEST SYNDROME 
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

See also Mental Retardation Panel

PARTINGTON SYNDROME, MRXS1
» MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1

309510

LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED) 

300215

MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 300432
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 300412

ASPA  (ASPARTOACYLASE)

271900

CANAVAN DISEASE 
» (See also Molecular Screening Tests)

271900

3 Mutations:
E285A, A305E, Y231X

ASS (ARGININOSUCCINATE SYNTHETASE) 603470 CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY
215700  
AT3 (SERPINC1)

107300

ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3
107300 . 

ATM

607585

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

.

ATP1A2 182340 FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 Whole Gene or 2 Mutations: L764P and W887R
ATP2A2 (ATP2B, SERCA2) 108740 DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE
124200  
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE
101900  
ATP2C1 604384 HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL
169600  
ATP6V1B1 (ATP6B1
VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)
192132 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS 267300 . 

ATP7A

300011

MENKES DISEASE 
» KINKY HAIR DISEASE 

309400

.

NEONATAL CUTIS LAXA 
» OCCIPITAL HORN SYNDROME 

304150

.

ATP7B 606882 WILSON DISEASE
» HEPATOLENTICULAR DEGENERATION
277900 Whole Gene or 1 Mutation: HIS1069GLN

ATP8B1 (FIC1)

 

602397

 

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

.

 
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE
211600  
ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP
605239 RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE)
» RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING
» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET SENSORINEURAL HEARING LOSS
602722 . 

ATROPHIN1

..

See DRPLA 

.

.

ATRX (XNP)
300032 ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
301040 Blood in RNA PAX tubes
JUBERG-MARSIDI SYNDROME
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)
309590 Blood in RNA PAX tubes
SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME
» MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME
309580 Blood in RNA PAX tubes

ATX1  (ATAXIN 1, SCA1, OPCA1)

601556

SPINOCEREBELLAR ATAXIA 1, SCA1

164400

See SCA1, SCA2, SCA3, SCA6, SCA7

ATX2  (ATAXIN 2, SCA2, OPCA2)

601517

SPINOCEREBELLAR ATAXIA 2, SCA2

183090

See SCA1, SCA2, SCA3, SCA6, SCA7

ATX3  (ATAXIN 3, SCA3)

607047

SPINOCEREBELLAR ATAXIA 3, SCA3
» MACHADO-JOSEPH DISEASE 

109150

See SCA1, SCA2, SCA3, SCA6, SCA7

ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8)

603680  SPINOCEREBELLAR ATAXIA 8, SCA8 608768 Repeat

ATXN10 (SCA10)

603516  SPINOCEREBELLAR ATAXIA 10, SCA10 603516 Repeat

AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)

600529

3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1
» 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY

250950

.

AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
304800 DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 . 

AZFa, AZFb and AZFc (including DAZ)

415000

AZOSPERMIA-OLIGOSPERMIA 
» SERTOLI-CELL-ONLY SYNDROME 
» MALE INFERTILITY 

415000

Deletions

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

B

Gene Gene OMIM Disease Disease OMIM

Comment

BBS1 209901  BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900  
BBS2 606151  BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900  

BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE)

603647

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

124000 .

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

603358 .
LEIGH SYNDROME 256000 .

BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)

608348 

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY
, LACTIC ACIDOSIS DUE TO

248600  

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

601299 JUVENILE POLYPOSIS SYNDROME 174900  
POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2 610069  

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

158350  

BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)

603248

BRACHYDACTYLY TYPE A2, BDA2
» BRACHYMESOPHALANGY 2
» MOHR - WRIEDT TYPE BRACHYDACTYLY

112600

.

BMPR2

600799

PRIMARY PULMONARY HYPERTENSION, PPH1

178600

.

BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757 CARDIOFACIOCUTANEOUS SYNDROME, CFC 115150  
LYMPHOMA, NON-HODGKIN    
NONSMALL CELL LUNG CANCER, SOMATIC    
ADENOCARCINOMA OF LUNG, SOMATIC    
COLORECTAL CANCER, SOMATIC    
THYROID CARCINOMA, PAPILLARY, SOMATIC    
MELANOMA, MALIGNANT, SOMATIC    

BRCA1

113705

BREAST AND OVARIAN CANCER 

113705

Whole Gene (sequencing and MLPA)

PROSTATE CANCER 

176807

Whole Gene (sequencing and MLPA)

BRCA1 and BRCA2

..

BREAST AND OVARIAN CANCER 

.

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

PROSTATE CANCER 

176807

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

BRCA2

600185

BREAST AND OVARIAN CANCER 

600185

Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)

PROSTATE CANCER 

176807

Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)

BSCL2 (SEIPIN) 606158 FAMILIAL SPASTIC PARAPLEGIA 17, SPG17
» SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
» SILVER SYNDROME
» SILVER SPASTIC PARAPLEGIA SYNDROME
» SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5
270685  
BSND (BARTTIN) 606412 BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
602522  

BTD (BIOTINIDASE)

609019 

BIOTINIDASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY

253260

8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations

BTK  (BRUTON TYROSINE KINASE, ATK, BPK)

300300

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA 
» HYPOGAMMAGLOBULINEMIA (X-LINKED) 

300300

.

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

C

Gene Gene OMIM Disease Disease OMIM

Comment

C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2,  T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE)

606075   PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), 3 609286  .
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 157640 .

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
»  SPINOCEREBELLAR ATAXIA WITH EPILEPSY

607459 .

C1NH  (C1 ESTERASE INHIBITOR, SERPING 1)

606860

ANGIOEDEMA 
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA

106100

.

CA2 (CARBONIC ANHYDRASE 2)
259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
» GUIBAUD - VAINSEL SYNDROME
» CARBONIC ANHYDRASE 2 DEFICIENCY
» MARBLE BRAIN DISEASE
259730 . 

CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4)

601011

SPINOCEREBELLAR ATAXIA 6, SCA6

183086

See SCA1, SCA2, SCA3, SCA6, SCA7

MIGRAINE, FAMILIAL HEMIPLEGIC, 1
» MIGRAINE, SPORADIC HEMIPLEGIC
141500  
EPISODIC ATAXIA, TYPE 2, EA2
» ATAXIA, EPISODIC, WITH NYSTAGMUS
» EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
» CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE
108500  

CACNA1S (CACNL1A3)

114208

HYPOKALEMIC PERIODIC PARALYSIS, HOKPP

170400

Exons 11, 26 and 30, containing all described mutations or 3 Mutations: R528H, R1239H, R1239G

MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5

601887

Exons 11, 26 and 30, containing all described mutations or 3 Mutations: R528H, R1239H, R1239G

THYROTOXIC PERIODIC PARALYSIS
» HASHITOXIC PERIODIC PARALYSIS

188580

Exons 11, 26 and 30, containing all described mutations or 3 Mutations: R528H, R1239H, R1239G

CACNA1S (CACNL1A3)
and
SCN4A
114208
and
603967

HYPOKALEMIC PERIODIC PARALYSIS, HOKPP

170400

4 Mutations in CACNA1S: R528G, R528H, R1239H, R1239G and 5 Mutations in SCN4A: R672S, R672H, R672G, R672C, R669H

CAPN3  (CALPAIN 3)

114240

LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A
» MUSCULAR DYSTROPHY, LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A

253600

.

CASP8 (CASPASE 8, FLICE, MCH5) 601763 CASPASE 8 DEFICIENCY 607271  
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B 601859  
CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909  

CASQ2 (CALSEQUESTRIN 2)

114251

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

604772  

CASR  (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1 
» FAMILIAL BENIGN HYPERCALCEMIA 1 

145980

..

HYPOCALCEMIA (AUTOSOMAL DOMINANT) 

601198

.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM 

239200

.

HYPOPARATHYROIDISM, FAMILIAL ISOLATED 

146200

.

CAT (CATALASE) 115500 ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY
115500 . 

CAV3 (CAVEOLIN 3)

601253

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD -1C 

607801

.

RIPPLING MUSCLE DISEASE 2, RMD
606072 .

CCM1 (KREV INTERACTION TRAPPED 1, KRIT1)

604214

CEREBRAL CAVERNOUS MALFORMATIONS, CCM1
» CAVERNOUS ANGIOMA, FAMILIAL
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS

116860 See also CCM1,
CCM2 and
PDCD10

CCM2 (CHROMOSOME 7 OPEN READING FRAME 22, C7ORF22,MALCAVERNIN,
MGC4067)

607929 CEREBRAL CAVERNOUS MALFORMATIONS 2, CCM2 603284 See also CCM1,
CCM2 and
PDCD10

CCM1,
CCM2 and
PDCD10

CEREBRAL CAVERNOUS MALFORMATIONS, CCM . Analysis of 3 Genes
CCR5 601373 RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1) 609423 1 Mutation: DEL32 BP
CBS (CYSTATHIONINE BETA-SYNTHASE) 236200 HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
236200 Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR)
CD2AP (CD2-ASSOCIATED PROTEIN) 604241 FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 607832  

CD3D (CD3 ANTIGEN, DELTA SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3)

186790 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID

608971

 

CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3)

186830 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID 608971  
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON 186830  

CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5)

109535

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
» HYPER-IgM SYNDROME 3

606843  
CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
607465  ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1
224120  

CDH1 (CADHERIN 1, UVOMORULIN)

  
192090 GASTRIC CANCER, FAMILIAL DIFFUSE 137215  
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE 192090  
CANCER (SOMATIC MUTATIOS) .  

CDK4

123829

MALIGNANT MELANOMA, CMM3

123829

.

CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)
.  RETT SYNDROME, ATYPICAL 312750 . 
INFANTILE SPASMS (X-LINKED), ISS X
» WEST SYNDROME
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

. 
ANGELMAN SYNDROME, ATYPICAL 105830 . 

CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2)

600856

BECKWITH-WIEDEMANN SYNDROME, BWS
»  EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

130650  
CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6)

610142  JOUBERT SYNDROME 5, JBTS5 610188  
SENIOR-LOKEN SYNDROME TYPE 6, SLSN6 610189  
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL BLINDNESS, CONGENITAL
204000  

CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)

118470

CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY 
» CETP DEFICIENCY 

607322

.

CFTR

602421

CYSTIC FIBROSIS, CF

219700

Whole Gene or
Mutations Kit or MLPA

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD

277180

Whole Gene or
Mutations Kit or MLPA

CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5)

604780

CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

275630  

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892 CHARGE SYNDROME 214800  

CHEK2 (CHECKPOINT KINASE 2)

604373 LI-FRAUMENI SYNDROME 2 609265  
BREAST CANCER, FAMILIAL 114480 Whole Gene or *1100delC

CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE)

300390

CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS

303100  

CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT)

118504 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 600513  

TOBACCO ADDICTION, SUSCEPTIBILITY TO
» NICOTINE DEPENDENCE, SUSCEPTIBILITY TO

188890  

CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE)

 
100730 

ESCOBAR SYNDROME
» MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE

265000

 

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

253290  

CIAS1  (CRYOPYRIN)

606416

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 

120100

.

CINCA SYNDROME 
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID

607115

.

MUCKLE-WELLS SYNDROME 

191900

.

CKN1 (CSA) 216400  COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A
216400 . 

CLCN1

118425

MYOTONIA CONGENITA (AUTOSOMAL DOMINANT) 
» THOMSEN DISEASE 

160800

.

MYOTONIA CONGENITA (AUTOSOMAL RECESSIVE) 
» BECKER MYOTONIA 

255700

.

MYOTONIA LEVIOR 

.

.

CLCN5

300008

DENT NEPHROCALCINOSIS 

300009

.

NEPHROLITHIASIS (X-LINKED) 

310468

.

CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024 BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
602522  
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023 BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
607364  
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
602522  

CLDN16 (CLAUDIN 16, PARACELLIN 1)

603959 

HYPOMAGNESEMIA, PRIMARY
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF

248250

 
CLDN19 (CLAUDIN 19) 610036 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
248190  

CLN1  (PALMITOYL-PROTEIN ESTERASE, PPT)

600722

CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE 

256730

.

CLN2

204500

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE 

204500

Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C

CLN3

607042

CEROID LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE 
» BATTEN DISEASE 

204200

Whole Gene or Common 1kb Deletion

CLN6

606725

CEROID LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE

601780

.

COCH (COCHLIN)
603196 DEAFNESS, DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9
603196 Whole Gene or 1 Mutation: P51S
COH1 607817  COHEN SYNDROME, COH1 216550 Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT)

COL1A1

120150

See COL1A1 and COL1A2 

.

.

COL1A1 and COL1A2

    

120150

.

    

EHLERS -DANLOS TYPE 1, EDS1

130000

Only on skin fibroblast cultures for mutation analysis in proband (See note)

EHLERS-DANLOS TYPE 7 , DOMINANT , EDS7

130060

Splice site mutations exons 5, 6 and 7

OSTEOGENESIS IMPERFECTA TYPE 1, OI1 166200 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 2, OI2 166210 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 3, OI3 259420 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 4, OI4 166220 Only on skin fibroblast cultures for mutation analysis in proband (See note)

COL1A2

120160

See COL1A1 and COL1A2 

.

.

COL2A1

   

120140

   

ACHONDROGENESIS TYPE 2 200610  

HYPOCHONDROGENESIS

.

 

KNIEST DYSPLASIA
» METATROFIC DWARFISM 
156550  
STICKLER SYNDROME TYPE 1 108300  
SPONDYLOEPIPHYSEAL DYSPLASIA (SED CONGENITA)
183900  
COL3A1  120180  EHLERS -DANLOS TYPE 4 EDS 4 130050 Only on skin fibroblast cultures for mutation analysis in proband (See note)
FIBROMUSCULAR DYSPLASIA 135580 Only on skin fibroblast cultures for mutation analysis in proband (See note)
COL4A3 

120070 

 
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 .  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
141200 .  
COL4A4  120131  ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 .  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
141200 .  
COL4A5 303630 ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

.  
COL5A1 and COL5A2  120215  EHLERS - DANLOS TYPE 1, EDS 1 130000 Only on skin fibroblast cultures for mutation analysis in proband (See note)
EHLERS - DANLOS TYPE 2, EDS 2 130010 Only on skin fibroblast cultures for mutation analysis in proband (See note)
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120 EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE)
226600 . 
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES
131750 . 
EPIDERMOLYSIS BULLOSA, PRETIBIAL 131850 . 
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
132000 . 
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)
» TOENAIL DYSTROPHY, ISOLATED
131705 . 
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE)

604129

. 
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE
607600 . 

COL10A1  (COLLAGEN, TYPE X, ALPHA1)

120110

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE 

156500

Whole Gene

COL11A1 (COLLAGEN, TYPE 11, ALPHA-1)

120280 MARSHALL SYNDROME 154780 Turn-around-time: 30 Weeks
STICKLER SYNDROME, TYPE 2 604841 Turn-around-time: 30 Weeks
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 STICKLER SYNDROME, TYPE 3 184840 Turn-around-time: 30 Weeks
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53
609706 Turn-around-time: 30 Weeks
WEISSENBACHER-ZWEYMULLER SYNDROME
» PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA
277610 Turn-around-time: 30 Weeks
DEAFNESS, DFNA13
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13
601868 Turn-around-time: 30 Weeks
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED 215150 Turn-around-time: 30 Weeks
COL17A1 (COLLAGEN, TYPE 17, ALPHA-1)
113811 EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
 
226650 . 

COMP

600310

MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1

132400

Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations

PSEUDOACHONDROPLASIA 

177170

Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations

COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE)

602125

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

220110 .
LEIGH SYNDROME 256000 .

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

603646 CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
220110 .
LEIGH SYNDROME 256000 .

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

600528 

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

255120 .

CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2)

   
600650    

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC

600649  .

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET

255110  .

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL

608836  .
MYOPATHY, VARIABLE   .

CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1)

604210 LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 604210  

RETINITIS PIGMENTOSA 12, RP12
» RP12 WITH COATS-LIKE EXUDATIVE VASCULOPATHY
» RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM

600105  
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY 172870  

CREBBP (CREB-BINDING PROTEIN, CBP)

600140 

RUBINSTEIN-TAYBI SYNDROME
» BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
» BROAD THUMB-HALLUX SYNDROME

180849  Whole Gene or Deletion
CRYGD (CRYSTALLIN, GAMMA-D)  123690 CATARACT, PUNCTATE 123690  
CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED
» CACA
115700  

CSTB  (CYSTATIN B, STEFIN B)

601145

EPILEPSY, PROGRESSIVE MYOCLONUS 
» UNVERRICH-LUNDBORG DISEASE 

254800

Repeat

CTNS (CYSTINOSIN)

606272 CYSTINOSIS, NEPHROPATHIC 219800  

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE

219900  
CYSTINOSIS, ADULT NONNEPHROPATHIC 219750  
CTSK (CATHEPSIN K)
601105  PYCNODYSOSTOSIS 265800 .  

CX26  (CONNEXIN 26)

..

See GJB2 

.

.

CX30  (CONNEXIN 30)

..

See GJB6 

.

.

CX30.3  (CONNEXIN 30.3)

..

See GJB4 

.

.

CX31  (CONNEXIN 31)

..

See GJB3 

.

.

CYBA  (p22 PHOX)

233690

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM 

233690

.

CYBB  (p91 PHOX)

306400

CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 

306400

.

CYP1B1,
OPTN and
MYOC

GLAUCOMA . Analysis of 3 Genes
CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1)
 
601771  GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS
231300 See also CYP1B1,
OPTN and
MYOC
PETERS ANOMALY 604229 See also CYP1B1,
OPTN and
MYOC
CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) 610613  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
202010 Whole Gene or CYP11B1/
CYP11B2 fusion
CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)
124080  CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE DEFICIENCY 1
» HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE DEFICIENCY
» STEROID 18-@HYDROXYLASE DEFICIENCY

203400

 

CYP19A1 (AROMATASE)

107910

AROMATASE DEFICIENCY
» PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY

107910

Sequence analysis of exons 9 and 10, including the following common mutations:
Arg365Gln
Val370Met
Arg375Cys
Arg435Cys
Cys437Tyr
Arg457Term

CYP21A2

201910

ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1
» 21-ALPHA-HYDROXYLASE DEFICIENCY
» CYP21 DEFICIENCY

201910

Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg

HYPERANDROGENISM
.

Whole Gene and MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg

CYP27A1 606530

CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS

213700  

CYP27B1

264700

PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE), PDDR
» RICKETS, PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE)

264700

Whole Gene

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

D

Gene Gene OMIM Disease Disease OMIM Comment

DAX1  (NROB1)

300200

ADDISON DISEASE (X-LINKED) 
» ADRENAL HYPOPLASIA, CONGENITAL 
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM 

300200

.

DAZ  (DELETED IN AZOOSPERMIA)

400003

See AZFa, AZFb and AZFc 

.

.

DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS)

605988

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, SCID
» SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
» SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE

602450  

OMENN SYNDROME
» RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
» SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA

603554  

DCX  (DOUBLECORTIN)

300121

DOUBLE CORTEX SYNDROME 
» LISSENCEPHALY (X-LINKED) 
» SUBCORTICAL LAMINAR HETEROTOPIA 

300067

Whole Gene Sequencing or Deletions - Duplications

DES (DESMIN)

125660

MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
» DESMINOPATHY, PRIMARY

601419  
DILATED CARDIOMYOPATHY, 1I, CMD1I 604765  

DHCR7  (DEHYDROCHOLESTEROL REDUCTASE)

602858

SMITH-LEMLI-OPITZ SYNDROME, SLO

270400

 

DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R)
250800   METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 250800   .  
DJ1 602533  PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) 606324 Whole Gene or Deletions

DKC1  (DYSKERIN)

300126

DYSKERATOSIS CONGENITA (X-LINKED), DKC
» ZINSSER-COLE-ENGMAN SYNDROME 

305000

.

HOYERAAL-HREIDARSSON SYNDROME 

300240

.

DLG3 300189 MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 300189 See also Mental Retardation Panel
DLL3
602768 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1, SCDO1
277300 .

DMD  (DYSTROPHIN)

300377

DUCHENNE MUSCULAR DYSTROPHY, DMD
» MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY

310200

Whole Gene or Deletions-Duplications (MLPA)

BECKER MUSCULAR DYSTROPHY, BMD
» MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY

300376

Whole Gene or Deletions-Duplications (MLPA)

DILATED CARDIOMYOPATHY (X-LINKED) 

302045

Whole Gene or Deletions-Duplications (MLPA)

DMPK  (DM KINASE, MYOTONIN)

605377

MYOTONIC DYSTROPHY, TYPE 1 
» STEINERT DISEASE 

160900

Repeat

DRD2 (DOPAMINE RECEPTOR D2) 126450 MYOCLONIC DYSTONIA
» DYSTONIA, ALCOHOL-RESPONSIVE
» MYOCLONUS, HEREDITARY ESSENTIAL
» DYSTONIA 11, DYT11
159900  

DRPLA  (ATROPHIN 1)

125370

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA

125370

Repeat

HAW RIVER SYNDROME, HRS

140340

Repeat

DYSF (DYSFERLIN)
603009 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B 253601 . 
MIYOSHI MYOPATHY
» MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)
254130 . 
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 606768 . 

DYT1  (TORSIN A)

605204

DYSTONIA MUSCULORUM DEFORMANS 
» TORSION DYSTONIA, EARLY ONSET, DYT1

128100

GAG Deletion or Whole Gene

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

E
 
Gene Gene OMIM Disease Disease OMIM Comment

EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA-HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE)

300205

CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2
» CONRADI-HUNERMANN SYNDROME
» HAPPLE SYNDROME

302960  

ECGF1 (ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED, THYMIDINE PHOSPHORYLASE,
GLIOSTATIN)

131222

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE
» MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
» POLIP SYNDROME
» MNGIE WITHOUT LEUKOENCEPHALOPATHY

603041 .

ED1  (ECTODYSPLASIN A, EDA)

300451

ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1

305100

.

EDAR  (ECTODYSPLASIN 1)

604095

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3

129490

.

HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) 
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE)

224900

.

EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) 300035 CRANIOFRONTONASAL SYNDROME, CFNS
» CRANIOFRONTONASAL DYSOSTOSIS
304110 .
EGR2 (EARLY GROWTH RESPONSE 2) 129010    CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY
605253  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3
145900  

EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3)

604032 

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
» MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME

226980  

ELA2 (ELASTASE 2)

130130

CYCLIC HEMATOPOIESIS
» CYCLIC NEUTROPENIA

162800

.

NEUTROPENIA, SEVERE CONGENITAL, SCN
» CONGENITAL NEUTROPENIA
» INFANTILE AGRANULOCYTOSIS
» KOSTMANN DISEASE

202700

.

EMERIN  (EMD)

300384

EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD
» MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

310300

.

EMX2 (EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF)

600035 SCHIZENCEPHALY 269160  

ENG (ENDOGLIN)

131195

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 1
» OSLER-RENDU-WEBER DISEASE, TYPE 1
» ORW DISEASE
, TYPE 1

187300  
ENG, ALK1 and SMAD4 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
» OSLER-RENDU-WEBER DISEASE
» ORW DISEASE
   

EPM2A (LAFORIN)

607566

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

254780  
ERCC6 (CSB)
133540 COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B
133540 . 
EVC 604831   ELLIS-VAN CREVELD SYNDROME 225500 .  
EVC2 607261   ELLIS-VAN CREVELD SYNDROME 225500 .  

EXT1  (EXOSTOSIN 1)

133700

MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME

133700

.

EXT2  (EXOSTOSIN 2)

133701

MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME

133701

.

EYA1

601653

BRANCHIO-OTO-RENAL SYNDROME, BOR

113650

.

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

F

Gene Gene OMIM Disease Disease OMIM Comment

F7 (FACTOR 7, COAGULATION FACTOR 7)

227500

FACTOR 7 DEFICIENCY
» HYPOPROCONVERTINEMIA

227500  

F8  (FACTOR 8)

306700

HAEMOPHILIA A 

306700

Whole Gene or Intron 22 Inversion

F9  (FACTOR 9)

306900

HAEMOPHILIA B 

306900

.

F11 (FACTOR 11, COAGULATION FACTOR 11)

264900

PTA DEFICIENCY
» COAGULATION FACTOR 11 DEFICIENCY
» ROSENTHAL SYNDROME

264900  
FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4)
300157 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 300387 See also Mental Retardation Panel
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 300387

FAH (F UMARYLACETOACETATE HYDROLASE, FUMARYLACETOACETASE)

276700

TYROSINEMIA, TYPE 1
» HEPATORENAL TYROSINEMIA
» FUMARYLACETOACETASE DEFICIENCY
» FAH DEFICIENCY

276700 5 Exons (Most Common Mutations)

FALDH

270200

SJOGREN-LARSSON SYNDROME 
» FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY 

270200

.

FANCA 607139 FANCONI ANEMIA
» FANCONI PANCYTOPENIA
227650 Whole Gene, 14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations or 8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations

FANCC

227645

FANCONI ANEMIA, COMPLEMENTATION GROUP C 
» FANCONI PANCYTOPENIA, TYPE 3 
» (See also Molecular Screening Tests)

227645

1 Mutation: IVS4+4A-G

FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) 607844 CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100  
FBLN5 (FIBULIN 5)

604580

CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100  
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700  
FBN1 (FIBRILLIN1)
    
134797     MARFAN SYNDROME, TYPE 1, MFS 154700 At least 20mg DNA is needed
    
MASS PHENOTYPE
» MASS SYNDROME
604308
ECTOPIA LENTIS 129600
FAMILIAL AORTIC ANEURYSM  
SHPHRINTZEN–GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
FBN2 (FIBRILLIN 2)
121050 CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
 121050 15 exons (exons 15, 22 -33 , 35-36)

FGA  (FIBRINOGEN ALPHA)

134820

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA 

202400

See FGA, FGB and FGG

AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL
105200  

FGA, FGB and FGG

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA 

202400

All 3 Genes

FGB  (FIBRINOGEN BETA)

134830

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA 

202400

See FGA, FGB and FGG

FGD1

305400

AARSKOG SYNDROME 
» FACIODIGITOGENITAL SYNDROME 

305400

.

FGF14 (FIBROBLAST GROWTH FACTOR 14)

601515 

SPINOCEREBELLAR ATAXIA 27, SCA27
» CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED

609307  

FGF23  (FIBROBLAST GROWTH FACTOR 23)

605380

HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT) 
» RICKETS, HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)

193100

.

FGFR1

136350

KALLMANN SYNDROME TYPE 2, KAL2 
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA

147950

Whole Gene

JACKSON-WEISS SYNDROME 
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

123150

 

PFEIFFER SYNDROME 
» CRANIOSYNOSTOSIS, PFEIFFER SYNDROME

101600

Selected exons. Also includes testing of selected exons of FGFR2

FGFR2

176943

APERT SYNDROME 
» CRANIOSYNOSTOSIS, APERT SYNDROME

101200

2 Mutations: S252W, P253R

BEARE-STEVENSON CUTIS GYRATA 
» CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA

123790

.

CROUZON SYNDROME 
» CRANIOSYNOSTOSIS, CROUZON SYNDROME

123500

.

JACKSON-WEISS SYNDROME
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME  

123150

.

SAETHRE-CHOTZEN SYNDROME 
» CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

101400

.

PFEIFFER SYNDROME 
» CRANIOSYNOSTOSIS, PFEIFFER SYNDROME

101600

Selected exons. Also includes testing of selected exons of FGFR2

FGFR3

134934

ACHONDROPLASIA 

100800

2 Mutations: G380R, G375C

HYPOCHONDROPLASIA 

146000

7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q

NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE) 
» CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS

602849

.

SAETHRE-CHOTZEN SYNDROME 
» CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

101400

.

THANATOPHORIC DYSPLASIA, TYPE 1 

187600

.

THANATOPHORIC DYSPLASIA, TYPE 2 

187601

.

SADDAN DYSPLASIA 
» CRANIOSYNOSTOSIS, SADDAN DYSPLASIA

.

.

CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS 
» CROUZONO DERMO SKELETAL SYNDROME 
» CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS

.

.

FGG  (FIBRINOGEN GAMMA)

134850

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA 

202400

See FGA, FGB and FGG

FH (FUMARATE HYDRATASE, FUMARASE)
  
136850   FUMARASE DEFICIENCY
» FUMARIC ACIDURIA
606812 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 150800
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 605839
FKRP (FUKUTIN-RELATED PROTEIN)
 
606596   MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C 606612 .  
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I 607155 .  

FLCN (FOLLICULIN, FLCL)

 
607273 

BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS

135150  
PNEUMOTHORAX, PRIMARY SPONTANEOUS 173600  
FLG (FILAGGRIN, PROFILAGGRIN)
135940  ICHTHYOSIS VULGARIS
» ICHTHYOSIS SIMPLEX

146700

 

FLNA (FILAMIN A)

300017

HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
» BILATERAL PERIVENTRICULAR HETEROTOPIA
» PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA

300049  
OTOPALATODIGITAL SYNDROME, TYPE 1, OPD1 311300 Exon 3

OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2
» CRANIOORODIGITAL SYNDROME
» FACIOPALATOOSSEOUS SYNDROME

304120 Exons 3, 5, 11, 22, 29, 45
FRONTOMETAPHYSEAL DYSPLASIA 305620 Exons 22, 29

MELNICK-NEEDLES SYNDROME
» OSTEODYSPLASTY OF MELNICK AND NEEDLES

309350

 

HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
» PERIVENTRICULAR NODULAR HETEROTOPIA 4

300537  
FLNB (FILAMIN B) 663381 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
» SYNSPONDYLISM, CONGENITAL
272460 . 
LARSEN SYNDROME (AUTOSOMAL DOMINANT) 150250 . 
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA
108720 . 
ATELOSTEOGENESIS, TYPE 3 108721 . 
BOOMERANG DYSPLASIA 112310 . 
FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) 136253 LYMPHEDEMA, HEREDITARY, TYPE 1
» NONNE-MILROY LYMPHEDEMA
» MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA
153100 Whole Gene or 8 Exons: Exons 18-25, representing 90% of reported mutations

FMO3  (FLAVIN - CONTAINING MONOOXYGENASE 3)

136132

FISH-ODOR SYNDROME 
» TRIMETHYLAMINURIA

602079

.

FMR1

309550

FRAGILE X SYNDROME, FRAXA

309550

Repeat - At least 20mg DNA with a concentration higher than 300 nanogram per microliter is needed

FMR2

309548

FRAGILE E SYNDROME, FRAXE

309548

Repeat

FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3)

601090 RIEGER SYNDROME, TYPE 1, RIEG1 180500  

IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA

137600  
PETERS ANOMALY 604229  
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS    
FOXC2 (FORKHEAD BOX C2) 602402 LYMPHEDEMA-DISTICHIASIS SYNDROME 153200  
LYMPHEDEMA, HEREDITARY, TYPE 2
» MEIGE LYMPHEDEMA
153400  
LYMPHEDEMA AND PTOSIS 153000  

FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2)

602617

BAMFORTH-LAZARUS SYNDROME
» HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

241850  
FOXL2 605597 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES
110100  

FOXP3 (FORKHEAD BOX P3, SCURFIN)

300292 

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX
» X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
» IDDM-SECRETORY DIARRHEA SYNDROME
» AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME
» DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME
» ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY
» POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA
» DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
» IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY

304790  
FRAXF (FRAGILE SITE F) 300031 FRAGILE F SYNDROME 300031 Repeat

FRDA  (FRATAXINE)

606829

FRIEDREICH ATAXIA, FRDA

229300

Repeat or 5 Exons: 1-5

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

608945 

FRASER SYNDROME
» CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

219000 Exon 6

FSHD

158900

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD 
» LANDOUZY-DEJERINE MUSCULAR DYSTROPHY 
» MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

158900

Repeat

At least 10ml EDTA Blood

FTL (FERRITIN LIGHT CHAIN)

 
134790 HYPERFERRITINEMIA-CATARACT SYNDROME 600886  

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

606159  
FTSJ1 (FTSJ HOMOLOG 1)
300499 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 300501 See also Mental Retardation Panel
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 309549
FUCA1 (ALPHA-L-FUCOSIDASE) 230000 FUCOSIDOSIS
» ALPHA-L-FUCOSIDASE DEFICIENCY
230000  
FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE) 601814 HYPOMAGNESEMIA, TYPE 2, RENAL 154020  

FY  (DUFFY BLOOD GROUP SYSTEM)

110700

HEMOLYTIC DISEASE, NEWBORN 

.

1 Mutation: G44D

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

G

Gene Gene OMIM Disease Disease OMIM Comment

G6PC  (GLUCOSE-6-PHOSPHATASE)

232200

GLYCOGEN STORAGE DISEASE, TYPE 1A
» GSD TYPE 1A
» VON GIERKE SYNDROME 

232200

 

G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE)

305900

G6PD DEFICIENCY
» GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

305900

.

G6PT1 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1, GLUCOSE-6-PHOSPHATE TRANSLOCASE) 602671 GLYCOGEN STORAGE DISEASE, TYPE 1B 232220  
GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) 606800 GLYCOGEN STORAGE DISEASE, TYPE 2
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY
232300  

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

137164 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES
604233  
EPILEPSY, CHILDHOOD ABSENCE, 2 607681  

GALC (GALACTOSYL CERAMIDASE, GALACTOCEREBROSIDASE)

606890

KRABBE DISEASE
» GLOBOID CELL LEUKODYSTROPHY
» GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY
» GALACTOCEREBROSIDASE DEFICIENCY

245200

.

GALK1 (GALACTOKINASE 1) 604313  GALACTOKINASE DEFICIENCY
» GALK DEFICIENCY
» GALACTOSEMIA TYPE 2
» GALACTOKINASE DEFICIENCY WITH CATARACT

230200 

.    
GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) 606999 GALACTOSEMIA TYPE 1
» GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
230400 Whole Gene or 1 Mutation: GLN188ARG
GARS (GLYCYL T RNA SYNTHETASE)
 
600287   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 601472  
SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5 600794  
GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) 305371 DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
» MACROTHROMBOCYTOPENIA (X-LINKED)
300637  
THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
» THROMBOCYTOPENIA WITH BETA-THALASSEMIA  (X-LINKED)

314050

 
GBA (ACID BETA- GLUCOSIDASE
GLUCOCEROBROSIDASE)
606463

GAUCHER DISEASE, TYPE 1 
» (See also Molecular Screening Tests)

230800 Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

GAUCHER DISEASE, TYPE 2
» (See also Molecular Screening Tests)

230900 Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L
GAUCHER DISEASE, TYPE 3
» (See also Molecular Screening Tests)
231000 Whole Gene or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L
GBE1 (GLYCOGEN BRANCHING ENZYME) 607839 GLYCOGEN STORAGE DISEASE, TYPE 4
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
» GLYCOGENOSIS 4
» AMYLOPECTINOSIS
232500  
POLYGLUCOSAN BODY DISEASE, ADULT FORM, APBD

263570

 

GCDH  (GLUTARYL COA DEHYDROGENASE)

231670

GLUTARICACIDURIA, TYPE 1 

231670

.

GCH1 (GTP CYCLOHYDROLASE 1)

600225

DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
» DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
» DYSTONIA 5, DYT5
» SEGAWA SYNDROME (AUTOSOMAL DOMINANT)
» DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD

128230

.

GTP CYCLOHYDROLASE 1 DEFICIENCY
» GCH DEFICIENCY
» HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY
» PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY 

233910

.

MYOCLONIC DYSTONIA
» MYOCLONUS-DYSTONIA SYNDROME
» DYSTONIA, ALCOHOL-RESPONSIVE
» DYSTONIA 11, DYT11
159900  

GCK  (GLUCOKINASE)

138079

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2, MODY2

125851

.

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 3 602485  
GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1)
606598 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) 214400 . 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) 607706 . 
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K 607831 . 
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL RECESSIVE)

608340

. 

GDF5  (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)

601146

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE 

201250

.

BRACHYDACTYLY, TYPE C 
» BRACHYDACTYLY, HAWS TYPE 

113100

.

CHONDRODYSPLASIA, GREBE TYPE 
» ACHONDROGENESIS, BRAZILIAN TYPE 
» ACROMESOMELIC DYSPLASIA, GREBE TYPE 

200700

.

FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY 
» DU PAN SYNDROME 

228900

.

GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN)

137780 ALEXANDER DISEASE 203450  
GGCX 137167 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 277450  

GH1

   
139250   

PITUITARY DWARFISM 1
» PRIMORDIAL DWARFISM
» SEXUAL ATELEIOTIC DWARFISM
» GROWTH HORMONE DEFICIENCY, ISOLATED
» AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B
» ILLIG-TYPE GROWTH HORMONE DEFICIENCY

262400  

PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)
» GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)
» ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2

173100  

PITUITARY DWARFISM 4
» PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
» BIODEFECTIVE GROWTH HORMONE
» KOWARSKI SYNDROME

262650  
SHORT STATURE, IDIOPATHIC (AUTOSOMAL) 604271  

GHR (GROWTH HORMONE RECEPTOR, GROWTH HORMONE-BINDING PROTEIN,  GHBP)

600946

PITUITARY DWARFISM 2
» GROWTH HORMONE INSENSITIVITY SYNDROME
» LARON SYNDROME
» GROWTH HORMONE RECEPTOR DEFICIENCY

262500  
SHORT STATURE, IDIOPATHIC (AUTOSOMAL) 604271  

GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43)

121014

OCULODENTODIGITAL DYSPLASIA
» OCULODENTOOSSEOUS DYSPLASIA

164200  

SYNDACTYLY, TYPE 3
» SYNDACTYLY OF FINGERS 4 AND 5

186100  
HYPOPLASTIC LEFT HEART SYNDROME 241550  

GJB1  (CONNEXIN 32, CX32)

304040

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED) 

302800

.

GJB2  (CONNEXIN 26, CX26)

121011

DEAFNESS, DFNA3 
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 3 

601544

.

DEAFNESS, DFNB1 
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1 

220290

.

PALMOPLANTAR KERATODERMA WITH DEAFNESS 
» HYPERKERATOSIS, PALMOPLANTAR KERATODERMA WITH DEAFNESS

148350

.

VOHWINKEL SYNDROME 

124500

.

KERATITIS-ICHTHYOSIS-DEAFNESS 

148210

.

GJB3  (CONNEXIN 31, CX31)

603324

ERYTHROKERATODERMIA VARIABILIS, EKV

133200

Whole Gene

DEAFNESS, DFNA2 
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2 

600101

Whole Gene

GJB4  (CONNEXIN 30.3, CX30.3)

605425

ERYTHROKERATODERMIA VARIABILIS, EKV

133200

.

GJB6  (CONNEXIN 30, CX30)

604418

DEAFNESS, DFNB1
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1
220290 Whole Gene

CLOUSTON SYNDROME 
» HYDROTIC ECTODERMAL DYSPLASIA, ED2
» ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME

129500

Whole Gene

DEAFNESS, DFNA3 
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 3 

601544

Whole Gene

GLA  (GALACTOSIDASE)

301500

FABRY DISEASE 

301500

.

GLB1 (GALACTOSIDASE, BETA-1)  230500  BETA-GALACTOSIDASE-1 DEFICIENCY,
GLB1 DEFICIENCY

» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1
» MORQUIO DISEASE, TYPE B
» MUCOPOLYSACCHARIDOSIS TYPE 4B, MPS 4B
230500 . 

GLDC (GLYCINE DECARBOXYLASE, GLYCINE CLEAVAGE SYSTEM P PROTEIN)

238300

NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY

605899  

GLI3 (GLI-KRUPPEL FAMILY MEMBER 3)

165240

PALLISTER-HALL SYNDROME
» HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY

146510 Deletions

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
» POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

175700 Deletions
POLYDACTYLY, POSTAXIAL, TYPE A1 174200 Deletions

POLYDACTYLY, PREAXIAL 4
» POLYSYNDACTYLY, UNCOMPLICATED CROSSED
» POLYDACTYLY, TYPE 1

174700  Deletions

ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME

200990

Deletions

GLOBIN

..

See HBB 

.

.

GLRA1  (GLYCIN RECEPTOR )

138491

HYPEREKPLEXIA 
» STARTLE DISEASE 
» KOK DISEASE 
» STIFF BABY SYNDROME 

149400

Frequent mutations

GLUD1 (GLUTAMATE DEHYDROGENASE 1)

138130 

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6
» HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

606762 Exons 6, 7, 10, 11 and 12
GM2A (GM2-ACTIVATOR)
272750  TAY-SACHS DISEASE, AB VARIANT
» HEXOSAMINIDASE ACTIVATOR DEFICIENCY
» GM2-GANGLIOSIDOSIS, TYPE AB
» AB VARIANT GM2-GANGLIOSIDOSIS
272750  
GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN)
    
139320 ALBRIGHT HEREDITARY OSTEODYSTROPHY
» PSEUDOHYPOPARATHYROIDISM, TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
» PSEUDOPSEUDOHYPOPARATHYROIDISM
103580  
MCCUNE-ALBRIGHT SYNDROME
» ALBRIGHT SYNDROME
» POLYOSTOTIC FIBROUS DYSPLASIA
174800 Whole Gene or 2 Common Mutations: R201H and R201C
OSSEOUS HETEROPLASIA, PROGRESSIVE
» ECTOPIC OSSIFICATION, FAMILIAL
» OSTEOMA CUTIS
166350  
PSEUDOHYPOPARATHYROIDISM, TYPE 1B 603233 Methylation
PITUITARY TUMOR, SOMATOTROPHINOMA
.  
GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) 603824 NONAKA DISTAL MYOPATHY
» MYOPATHY, DISTAL, WITH RIMMED VACUOLES
605820 ...
SIALURIA 269921  
INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 600737  
GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE) 138720  GIANT PLATELET SYNDROME
» BERNARD-SOULIER SYNDROME
» PLATELET GLYCOPROTEIN Ib DEFICIENCY
» GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY
» MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE
231200  

GPC3 (GLYPICAN 3)

300037

SIMPSON-GOLABI-BEHMEL SYNDROME, SGBS

312870

Deletion Analysis or Deletion Analysis + Whole Gene Analysis

GRHPR (GLYOXYLATE REDUCTASE / HYDROXYPYRUVATE REDUCTASE, GLXR)

604296

HYPEROXALURIA, PRIMARY, TYPE 2
» OXALOSIS 2
» GLYCERIC ACIDURIA
» GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY
» D-GLYCERATE DEHYDROGENASE DEFICIENCY

260000 Whole Gene or 1 Mutation: 103delG

GRN (GRANULIN, PROGRANULIN,
EPITHELIN)

138945

FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE
» DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION

607485 Whole Gene or Deletions

GYS2 (GLYCOGEN SYNTHASE 2)

138571

GLYCOGEN STORAGE DISEASE, TYPE 0
» GSD TYPE 0
» LIVER GLYCOGEN SYNTHASE DEFICIENCY

240600  
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

H

Gene Gene OMIM Disease Disease OMIM Comment
HADH (3-@HYDROXYACYL-CoA DEHYDROGENASE, HADSC, SCHAD) 601609  3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
» HADH DEFICIENCY
» SCHAD DEFICIENCY
231530  

HADH2 (HYDROXYACYL-CoA DEHYDROGENASE TYPE 2, AMYLOID BETA-BINDING POLYPEPTIDE, ERAB, 2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE)

300256

2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

300438

.

HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT,
LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD)
600890  TRIFUNCTIONAL PROTEIN DEFICIENCY 609015 .
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY 609016 .
NEUROPATHY-MYOPATHY, PROGRESSIVE, DUE TO TRIFUNCTIONAL PROTEIN DEFICIENCY    .

HADHB (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, BETA SUBUNIT, TRIFUNCTIONAL PROTEIN, BETA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, BETA SUBUNIT
HYDROXYACYL-CoA DEHYDROGENASE, HADH)

143450  TRIFUNCTIONAL PROTEIN DEFICIENCY 609015  .
HAMP (HEPCIDIN ANTIMICROBIAL PEPTIDE)
606464  HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS, TYPE 2, HFE2
» HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN
602390  
HBA 1 and HBA 2 (ALPHA GLOBIN)
141800 ALPHA HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
141800 Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA)

HBB  (BETA GLOBIN)

141900

BETA HAEMOGLOBINOPATHIA 
» BETA THALASSEMIA 

141900

.

SICKLE CELL ANEMIA 

603903

.

HD  (HUNTINGTIN)

143100

HUNTINGTON CHOREA 

143100

Repeat

HERG

152427

LONG QT SYNDROME 2, LQT2
» ROMANO-WARD SYNDROME 

152427

See also LONG QT PANEL 1
and

LONG QT PANEL 2 and
LONG QT PANEL 3

HESX1 (HOMEOBOX GENE EXPRESSED IN ES CELLS)

 
601802

SEPTOOPTIC DYSPLASIA
» DE MORSIER SYNDROME
» PITUITARY HORMONE DEFICIENCY

182230  

PITUITARY DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM
» HANHART DWARFISM

262600  
HEXA (HEXOSAMINIDASE) 606869  TAY-SACHS DISEASE
»GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1
» HEXOSAMINIDASE A DEFICIENCY
» (See also Molecular Screening Tests)
272800 Whole Gene or 3 Mutations: 1277insTATC, IVS12+1G-C, G269S
HEXB (HEXOSAMINIDASE B) 606873  SANDHOFF DISEASE
» GM2-GANGLIOSIDOSIS, TYPE 2
» HEXOSAMINIDASES A AND B DEFICIENCY
268800  
HF1 (COMPLEMENT FACTOR H)
134370 HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1

235400

. 

HFE

235200

HEMOCHROMATOSIS, TYPE 1, HFE1

235200

2 Mutations
(C282Y, H63D) or 4 Mutations (C282Y, H63D, S65C, E168X)

HLXB9 (HOMEOBOX GENE HB9)
142994  CURRARINO TRIAD
» SACRAL AGENESIS SYNDROME
» SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION
176450  
HMBS (HYDROXYMETHYLBILANE SYNTHASE) 609806 PORPHYRIA, ACUTE INTERMITTENT
» PORPHOBILINOGEN DEAMINASE DEFICIENCY
» PBGD DEFICIENCY
» UROPORPHYRINOGEN SYNTHASE DEFICIENCY
176000 .  

HMGCL  (HMG - COA SYNTHETASE)

246450

HMG-COA LYASE DEFICIENCY 
» HMG-COA SYNTHETASE DEFICIENCY 

246450

.

HNF1A (TCF1)

142410

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3

600496

.

HEPATIC ADENOMA 

142330

.

HNF1B  (HNF2, TCF2)

189907

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5, MODY5

604284

.

HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE 

137920

.

HNF4A

600281

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1, MODY1

125850

.

HOXA 13

142959

HAND-FOOT-UTERUS SYNDROME
» HAND-FOOT-GENITAL SYNDROME

140000

.

.
GUTTMACHER SYNDROME .  

HOXD 13 (HOMEOBOX D13)

142989

  

BRACHYDACTYLY TYPE E, BDE

113300

.

BRACHYDACTYLY TYPE D, BDD 113200  
SYNDACTYLY, TYPE 2
» SYNPOLYDACTYLY
186000  

HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT)

308000

LESCH - NYHAN SYNDROME, LNS
» HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
» HPRT1 DEFICIENCY
» HPRT DEFICIENCY

300322

.

GOUT, HPRT-RELATED
»
KELLEY-SEEGMILLER SYNDROME 
300323  

HPS1

604982

HERMANSKY-PUDLAK SYNDROME 

203300

1 Mutation: 16bp Duplication

HPS3

606118

HERMANSKY-PUDLAK SYNDROME 

203300

2 Mutations: 3.9kb Deletion and IVS5+1G>A Mutation

HPS1 and HPS3

..

HERMANSKY-PUDLAK SYNDROME 

203300

3 Mutations

HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG)

190020

COSTELLO SYNDROME
» FACIOCUTANEOSKELETAL SYNDROME

218040

1 Exon: 2
or
4 Exons: 2, 3, 4, 6

HRPT2 (PARAFIBROMIN)

 
607393 

HYPERPARATHYROIDISM 2, HRPT2
» HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS
» HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY, HPT-JT
» PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC

145001

Exons 1-7 (Majority of Mutations)
or
Exons 8-17

HYPERPARATHYROIDISM 1, HRPT1
» HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY
» PARATHYROID ADENOMA, FAMILIAL

145000

Exons 1-7 (Majority of Mutations)
or
Exons 8-17

HSD11B2 218030

CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2

 218030  

HSD17B3 (17-@BETA HYDROXYSTEROID DEHYDROGENASE 3, ESTRADIOL 17-BETA-DEHYDROGENASE,EDH17B3)

605573

17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
» PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
» POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS

264300  
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

I

Gene Gene OMIM Disease Disease OMIM Comment
ICR1 608897  SILVER-RUSSELL SYNDROME
» RUSSELL-SILVER SYNDROME
180860 Combined testing of epimutation at ICR1 on chromosome 11p15 and UPD of chromosome 7

IDS  (IDURONATE SULFATASE)

309900

MUCOPOLYSACCHARIDOSIS, TYPE 2 
» HUNTER SYNDROME 

309900

.

IF (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

217030 COMPLEMENT FACTOR 1 DEFICIENCY 217030  

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 
107470

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

209950  
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 600263  

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

147569

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

 209950  

IFNGR1 and IFNGR2

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

 209950  
IGHM (IMMUNOGLOBULIN MU) 147020  AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE)

601495

 

IGHMBP2 (IMMUNOGLOBULIN MU BINDING PROTEIN 2, CARDIAC TRANSCRIPTION FACTOR 1, CATF1)

600502

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1, SMARD1
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 6
» SEVERE INFANTILE AXONAL NEUROPATHY WITH RESPIRATORY FAILURE

604320  

IHH (INDIAN HEDGEHOG)

600726

BRACHYDACTYLY TYPE A1, BDA1
» FARABEE TYPE BRACHYDACTYLY

112500

.

ACROCAPITOFEMORAL DYSPLASIA, ACFD 607778 .

IKBKAP  (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP)

603722

DYSAUTONOMIA, FAMILIAL, DYS
» RILEY-DAY SYNDROME 
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY, TYPE 3, HSAN-3
» (See also Molecular Screening Tests)

223900

2 Mutations: IVS2+6T-C, R696P

IKBKG (NEMO)

300248

BLOCH-SULZBERGER DISEASE 
» INCONTINENTIA PIGMENTI 

308300

Whole Gene or 1 Mutation: Exon 4-10 Deletion

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY 
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC WITH IMMUNE DEFICIENCY

300291

Whole Gene or 1 Mutation: Exon 4-10 Deletion

IL2RG (INTERLEUKIN 2 RECEPTOR, GAMMA)

308380 SEVERE COMBINED IMMUNODEFICIENCY (X-LINKED), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE, SCIDX1 300400  

IL7R (INTERLEUKIN 7 RECEPTOR)

146661 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID 608971  

INSR (INSULIN RECEPTOR)

   
147670   

LEPRECHAUNISM
» DONOHUE SYNDROME

246200  
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS 147670  

RABSON-MENDENHALL SYNDROME
» PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES

262190  
INSULIN RESISTANCE    
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 5 609968  

IPF1

600733

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4, MODY4

606392

.

IRF6

607199

POPLITEAL PTERYGIUM SYNDROME 

119500

Selected Exons

VAN DER WOUDE SYNDROME 

119300

.

ITGA6 (INTEGRIN, ALPHA-6) 147556 EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
» CARMI SYNDROME
226730 . 

ITGB2 (INTEGRIN, BETA-2)

600065

LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD
» LFA1 IMMUNODEFICIENCY

116920  
ITGB4 (INTEGRIN, BETA-4) 147557 EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
» CARMI SYNDROME
226730 . 
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
 
226650 . 
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
» WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEX
» COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE
131800 . 
IVD (ISOVALERYL-CoA DEHYDROGENASE) 607036 ISOVALERIC ACIDEMIA
» ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY
243500  
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

J

Gene Gene OMIM Disease Disease OMIM Comment

JAG1  (JAGGED1)

601920

ALAGILLE SYNDROME 

118450

.

TETRALOGY OF FALLOT 

187500

.

JAK2 (JANUS KINASE 2) 147796  

POLYCYTHEMIA VERA

263300 1Common Mutation: V617F
ESSENTIAL THROMBOCYTHEMIA 187950 1Common Mutation: V617F
MYELOID METAPLASIA WITH MYELOFIBROSIS 254450 1Common Mutation: V617F
CHRONIC MYELOMONOCYTIC LEUKEMIA (CMML)   1Common Mutation: V617F
SYSTEMIC MASTOCYTOSIS   1Common Mutation: V617F
NEUTROPHILIC LEUKEMIA (CNL)   1Common Mutation: V617F
HYPEREOSINOPHILIC SYNDROME   1Common Mutation: V617F
THE MYELODYSPLASTIC SYNDROMES   1Common Mutation: V617F

JAK3 (JANUS KINASE 3)

600173 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE, SCID 600802  

JK (KIDD BLOOD GROUP SYSTEM)

111000

HEMOLYTIC DISEASE, NEWBORN 

.

1 Mutation: N280D

JPH3 (JUNCTOPHILIN 3)

605268  HUNTINGTON DISEASE-LIKE 2, HDL2 606438 Repeat
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

K

Gene Gene OMIM Disease Disease OMIM Comment
KAL1 (ADHESION MOLECULE-LIKE, X-LINKED, ANOSMIN 1)
308700  KALLMANN SYNDROME, TYPE 1, KAL1
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
» DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
» ANOSMIC HYPOGONADISM
308700  
KCNA1 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1)
176260  EPISODIC ATAXIA, TYPE 1, EA1
» EPISODIC ATAXIA WITH MYOKYMIA
» ATAXIA, EPISODIC, WITH MYOKYMIA
» PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS SYNDROME
160120  

KCNE1 (MINK, ISK)

176261

LONG QT SYNDROME 5, LQT5
» ROMANO-WARD SYNDROME 

176261

See also LONG QT PANEL 1
and

LONG QT PANEL 2 and
LONG QT PANEL 3

JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1

220400

KCNE2

603796

LONG QT SYNDROME 6, LQT6
» ROMANO-WARD SYNDROME 

603796

See also LONG QT PANEL 1
and

LONG QT PANEL 2 and
LONG QT PANEL 3

KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) 600359 ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2
241200  
KCNJ11 600937  DIABETES MELLITUS, PERMANENT NEONATAL

606176 

.
NESIDIOBLASTOSIS
» HYPERINSULINISM (AUTOSOMAL RECESSIVE)
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY DUE TO FOCAL ADENOMATOUS HYPERPLASIA
256450  .

KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1)

600681

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME

170390  
SHORT QT SYNDROME 3, SQT3 609622  

KCNQ1  (KVLQT1)

192500

LONG QT SYNDROME 1, LQT1
» ROMANO-WARD SYNDROME 

192500

See also LONG QT PANEL 1
and

LONG QT PANEL 2 and
LONG QT PANEL 3

JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1

220400

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

602235

EPILEPSY, BENIGN NEONATAL, TYPE 1
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1

121200  

MYOKYMIA WITH NEONATAL EPILEPSY
» EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA
» BFNC/MYOKYMIA SYNDROME

606437  
KCNQ1OT1 and H19 604115
and
103280
  

BECKWITH-WIEDEMANN SYNDROME, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

130650 KCNQ1OT1 and H19 Imprinting

KEL  (KELL-CELLANO BLOOD GROUP SYSTEM, KELL NULL)

110900

HEMOLYTIC DISEASE, NEWBORN 

.

1 Mutation: T193M

KIF1B (KINESIN FAMILY MEMBER 1B)
605995  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210  

KIF21A (KINESIN FAMILY MEMBER 21A)

 

608283

 

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3
» OPHTHALMOPLEGIA, CONGENITAL
» BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS 

135700

Hot Spots (Exons 8, 20, 21)

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3 600638 Hot Spots (Exons 8, 20, 21)

KIF5A (KINESIN FAMILY MEMBER 5A)

602821.

FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10

604187

Whole Gene

KIND1 (KINDLIN 1) 607900 KINDLER SYNDROME
» POIKILODERMA, HEREDITARY ACROKERATOTIC
» BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY
» POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE
173650 . 
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070 NOONAN SYNDROME, TYPE 3 609942  
CARDIOFACIOCUTANEOUS SNDROME, CFCY 115150  
LEUKEMIA, ACUTE MYELOGENOUS    
STOMACH CANCER    
PANCREATIC CARCINOMA    
BLADDER CANCER, TRANSITIONAL CELL    
BREAST CANCER, FAMILIAL 114480  
LUNG CANCER, SQUAMOUS CELL    

KRT1  (KERATIN 1)

139350

ICHTHYOSIS BULLOSA (SIEMENS) 

146800

Whole Gene or Hotspots

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 
» BROCQ SYNDROME 
» EPIDERMOLYTIC HYPERKERATOSIS 
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC

113800

Whole Gene or Hotspots

NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 
» UNNA-THOST DISEASE 
» HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

600962

Whole Gene or Hotspots

CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS  

.

Whole Gene or Hotspots

KRT1 and KRT10  (KERATIN 1 and KERATIN 10)

..

ICHTHYOSIS BULLOSA (SIEMENS) 

146800

Hotspots

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 
» BROCQ SYNDROME 
» EPIDERMOLYTIC HYPERKERATOSIS 
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC HYPERKERATOSIS

113800

Hotspots

KRT2E  (KERATIN 2E)

600194

ICHTHYOSIS BULLOSA (SIEMENS) 

146800

.

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 
» BROCQ SYNDROME 
» EPIDERMOLYTIC HYPERKERATOSIS 
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC HYPERKERATOSIS

113800

.

KRT4  (KERATIN 4)

123940

WHITE SPONGE NEVUS 

193900

.

KRT5  (KERATIN 5)

148040

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) 

131760

Whole Gene

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) 

131800

Whole Gene

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) 

131900

Whole Gene

KRT5 and KRT14  (KERATIN 5 and KERATIN 14)

..

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) 

131760

Hotspots

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) 

131800

Hotspots

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) 

131900

Hotspots

KRT6A  (KERATIN 6A)

148041

JADASSOHN-LEWANDOWSKY SYNDROME 
» PACHYONYCHIA CONGENITA, TYPE 1 

167200

.

KRT6B  (KERATIN 6B)

148042

JACKSON-LAWLER DISEASE 
» PACHYONYCHIA CONGENITA, TYPE 2 

167210

.

KRT9  (KERATIN 9)

144200

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA 
» VORNER DISEASE 
» HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

144200

Whole Gene or Hotspots

KRT10  (KERATIN 10)

148080

ICHTHYOSIS BULLOSA (SIEMENS) 

146800

Whole Gene or Hotspots

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL 
» BROCQ SYNDROME 
» EPIDERMOLYTIC HYPERKERATOSIS 
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC HYPERKERATOSIS

113800

Whole Gene or Hotspots

KRT13  (KERATIN 13)

148065

WHITE SPONGE NEVUS 

193900

.

KRT14  (KERATIN 14)

148066

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE) 

131760

Whole Gene

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE) 

131800

Whole Gene

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE) 

131900

Whole Gene

KRT16  (KERATIN 16)

148067

JADASSOHN-LEWANDOWSKY SYNDROME 
» PACHYONYCHIA CONGENITA, TYPE 1 

167200

.

NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 
» UNNA-THOST DISEASE 
» HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

600962

.

KRT16 and KRT17  (KERATIN 16 and KERATIN 17)

..

NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 
» UNNA-THOST DISEASE 
» HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

600962

Hotspots

KRT17  (KERATIN 17)

148069

JACKSON-LAWLER DISEASE 
» PACHYONYCHIA CONGENITA, TYPE 2 

167210

.

STEATOCYSTOMA MULTIPLEX 

184500

.

NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA 
» UNNA-THOST DISEASE 
» HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA

600962

.

 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

L

Gene Gene OMIM Disease Disease OMIM Comment

L1  (L1CAM)

308840

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS, HSAS
» AQUEDUCTAL STENOSIS (X-LINKED) 

307000

.

CORPUS CALLOSUM AGENESIS (X-LINKED), ACC

304100

.

CRASH SYNDROME 
» MENTAL RETARDATION, APHASIA, SHUFFLING GATE, AND ADDUCTED THUMBS SYNDROME, MASA

303350

.

FAMILIAL SPASTIC PARAPLEGIA 1 (X-LINKED), SPG1

312900

.

LAD (LIPOAMIDE DEHYDROGENASE)
246900 LIPOAMIDE DEHYDROGENASE DEFICIENCY 246900 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MEROSIN)
156225 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A 607855 .
LAMA3 (LAMININ, ALPHA-3)
 
600805   EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA
226700 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
226650 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMB3 (LAMININ, BETA-3)
 
150310   EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA
226700 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
226650 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMC2 (LAMININ, GAMMA-2)
 

150292 

 
EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA
226700 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
226650 Whole Gene

See also
LAMA3,
LAMB3 and
LAMC2
LAMA3,
LAMB3 and
LAMC2
. EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA
226700 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT
226650 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X

LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2)

309060

GLYCOGEN STORAGE DISEASE, TYPE 2B
» GSD TYPE 2B
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
GLYCOGEN STORAGE DISEASE LIMITED TO THE HEART
» ANTOPOL DISEASE
» DANON DISEASE

300257  

LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
» LCAT DEFICIENCY
» NORUM DISEASE

245900

.

FISH-EYE DISEASE

136120

 

LCT (LACTASE)

603202

LACTOSE INTOLERANCE
» HYPOLACTASIA
» DISACCHARIDE INTOLERANCE
» ADULT LACTASE DEFICIENCY
» LACTASE NONPERSISTENCE

223100 T13910C

LDLR (LDL RECEPTOR)

606945

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT)

143890

Whole Gene LDLR + 3 Exons in APOB

LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844 BUSCHKE-OLLENDORFF SYNDROME
» DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
» OSTEOPATHIA CONDENSANS DISSEMINATA
» OSTEOPOIKILOSIS, ISOLATED, INCLUDED
166700  
MELORHEOSTOSIS
» MELORHEOSTOSIS WITH OSTEOPOIKILOSIS
155950  
LFNG (LUNATIC FRINGE) 602576 SPONDYLOCOSTAL DYSOSTOSIS, TYPE 3 (AUTOSOMAL RECESSIVE) 609813  

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   
152790

PRECOCIOUS PUBERTY, MALE-LIMITED
» SEXUAL PRECOCITY, FAMILIAL, GONADOTROPIN-INDEPENDENT
» TESTOTOXICOSIS, FAMILIAL

176410  
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM .   
HYPERGONADOTROPIC HYPOGONADISM, FEMALE .   
MICROPENIS .   

LHX3 (LIM HOMEOBOX GENE 3, LIM3)

600577

PITUITARY DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM
» HANHART DWARFISM
» PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE,
INCLUDED

262600  

LHX4 (LIM HOMEOBOX GENE 4, LHX4, LHX4/IGHG1 FUSION GENE)

602146 SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA 606606  

LIFR (LEUKEMIA INHIBITORY FACTOR RECEPTOR)

151443

STUVE-WIEDEMANN SYNDROME
» SCHWARTZ-JAMPEL SYNDROME, TYPE 2
» SCHWARTZ-JAMPEL SYNDROME, NEONATAL

601559 Whole Gene or 653-654insT

LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE LIPASE, HTGL)

151670 HEPATIC LIPASE DEFICIENCY
151670 .
LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR) 603795 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C 601098 . 

LMNA (LAMIN A/C)

 

150330

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, LGMD1B

159001

.

EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT ), EDMD2

181350

.

EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3
604949  
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2
» LIPODYSTROPHY, DUNNIGAN TYPE
151660  
DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A
115200  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 605588  
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA
» CRANIOMANDIBULAR DERMATODYSOSTOSIS
 
248370  
HUTCHINSON-GILFORD PROGERIA SYNDROME 176670  
WERNER SYNDROME 277700  
LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY AND LEUKOMELANODERMIC PAPULES, LDHCP 608056  

LMX1B

602575

NAIL-PATELLA SYNDROME, NPS

161200

.

LONG QT PANEL 1:
- KCNQ1
- HERG

LONG QT SYNDROME   9 Exons with Mutation Hotspots
LONG QT PANEL 2:
- KCNQ1
- HERG
- SCN5A
- KCNE1
- KCNE2
LONG QT SYNDROME   20 Exons with Mutation Hotspots
LONG QT PANEL 3: LONG QT SYNDROME   All 65 Exons

LOR (LORICRIN)

152445

VOHWINKEL SYNDROME, VARIANT FORM
» VOHWINKEL SYNDROME WITH ICHTHYOSIS
» MUTILATING KERATODERMA WITH ICHTHYOSIS

604117  
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC 602036  

LPL (LIPOPROTEIN LIPASE)

238600

HYPERLIPOPROTEINEMIA TYPE 1
» LIPOPROTEIN LIPASE DEFICIENCY
» HYPERCHYLOMICRONEMIA

238600

.

LRAT (LECITHIN RETINOL ACYLTRANSFERASE)

604863  RETINAL DYSTROPHY, EARLY-ONSET SEVERE 604863  
LRRK2 (LEUCINE-RICH REPEAT KINASE)
609007   PARKINSON DISEASE, TYPE 8, PARK8 607060   Whole Gene or Exon 41
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

M

Gene Gene OMIM Disease Disease OMIM Comment
MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) 609489 MANNOSIDOSIS, BETA A, LYSOSOMAL
» BETA-MANNOSIDASE DEFICIENCY
248510  

MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1)

176872

CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME

115150 Whole Gene or Exons 2 and 3

MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2)

601263

CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME

115150 Whole Gene or Exons 2 and 3 (6% of CFC cases)

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   
157140

FRONTOTEMPORAL DEMENTIA
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION

600274  Whole Gene 
PICK DISEASE OF BRAIN 172700 Whole Gene 

SUPRANUCLEAR PALSY, PROGRESSIVE, 1
» STEELE-RICHARDSON-OLSZEWSKI SYNDROME

601104 Whole Gene 
17q21.31 MICRODELETION SYNDROME   Deletions
MASTL (MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE) 608221 THROMBOCYTOPENIA, TYPE 2
» THROMBOCYTOPENIA (AUTOSOMAL DOMINANT)
188000  
MBL (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN,
COLLECTIN 1)
154545  MANNOSE-BINDING PROTEIN DEFICIENCY 154545  
MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN,
COLLECTIN 1)

 

154545  SUSCEPTIBILITY TO INFECTION   . 

Whole Gene or
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C

MANNOSE-BINDING PROTEIN DEFICIENCY   .  Whole Gene or
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C
MC2R (MELANOCORTIN 2 RECEPTOR; ACTH RECEPTOR) 607397 GLUCOCORTICOID DEFICIENCY 1
» ADRENAL UNRESPONSIVENESS TO ACTH
» ACTH RESISTANCE
202200 . 

MC4R (MELANOCORTIN 4 RECEPTOR)

155541 OBESITY 601665  
MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) 609010 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1
210200  
MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2
210210  

MCOLN1  (ML4, MUCOLYPIN)

605248

MUCOLIPIDOSIS 4, ML4

252650

.

MCP (MEMBRANE COFACTOR PROTEIN, MEASLES VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10)

120920  HEMOLYTIC - UREMIC SYNDROME, HUS 235400  

MECP2

300005

RETT SYNDROME 

312750

Whole Gene or Deletion Analysis (MLPA)

MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM 

300055

Whole Gene or Deletion Analysis (MLPA)

NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE16, MRX16

.

Whole Gene or Deletion Analysis (MLPA)

MEFV

249100

FAMILIAL MEDITERRANEAN FEVER, FMF

249100

Exons 2,3,5 and 10 harbouring 98% of all mutations or Whole Gene

MEN1  (MENIN)

131100

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1, MEN1

131100

.

MERTK (MER TYROSINE KINASE PROTOONCOGENE)

604705  RETINITIS PIGMENTOSA, MERTK-RELATED 604705  
MESP2 (MESODERM POSTERIOR 2) 605195 SPONDYLOCOSTAL DYSOSTOSIS, TYPE 2 (AUTOSOMAL RECESSIVE) 608681  
MEST (PEG1) 601029 SILVER-RUSSELL SYNDROME 180860 UPD Study by Methylation Analysis
MFN2 (MITOFUSIN 2)

608507 

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210  

MID1 (MIDLINE 1, MIDIN, MIDLINE 1 RING FINGER GENE)

300000

 

OPITZ SYNDROME
» OPITZ G/BBB SYNDROME (X-LINKED)
» OPITZ SYNDROME (X-LINKED)
» OPITZ-G SYNDROME

300000

.

 

MITF

156845

WAARDENBURG SYNDROME, TYPE 2, WS2

193510

Whole Gene or Deletion Analysis (MLPA)

MITOCHONDRIAL MUTATIONS

..

Listed Separately.
» See also (Mitochondrial Molecular Tests

.

.

MLC1

605908

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 

605908

.

MLH1

120436

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 1 

114500

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 2 

114400

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

MLH1, MSH2 and MSH6

..

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 1 

114500

3 Genes, All Tests

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 2 

114400

3 Genes, All Tests

MPL  (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR)

159530

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, CAMT

604498

.

MPZ  (MYELIN PROTEN ZERO, P0)

159440

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B, HMSN1B

118200

.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I

607677  

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J

607736  

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
» DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY 

145900

.

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D,CMTDID

607791  

NEUROPATHY, CONGENITAL HYPOMYELINATING

605253  

ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA

180800  
MR1 (MYOFIBRILLOGENESIS REGULATOR 1) 609023 PAROXYSMAL NONKINESIGENIC DYSKINESIA
» PAROXYSMAL DYSTONIC CHOREOATHETOSIS
» MOUNT-REBACK SYNDROME
» CHOREOATHETOSIS, NONKINESIGENIC
» DYSTONIA 8, DYT8
118800  
MRX-Panel:
ARX,
PQBP1,
JARID1C,
TM4SF2,
FACL4,
DLG3,
FTSJ1,
ZNF41
.
300382
300463
314690
300096
300157
300189
300499
314995
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) .   
MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN) 609196 GLUCOCORTICOID DEFICIENCY 2 607398 . 
MSK1 609883

MECKEL SYNDROME, TYPE 1
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME

249000  
MSK3 (MECKELIN, TMEM67, TRANSMEMBRANE PROTEIN 67) 609884 JOUBERT SYNDROME 6, JBTS6 610688  
MECKEL SYNDROME, TYPE 3
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME
607361  

MSH2

120435

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 1 

114500

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 2 

114400

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

MSH6

600678

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 1 

114500

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC
» LYNCH CANCER FAMILY SYNDROME, TYPE 2 

114400

Whole Gene and MLPA

See also MLH1, MSH2 and MSH6

MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2)

123101

PARIETAL FORAMINA, TYPE 1
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

168500  
PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA 168550  

CRANIOSYNOSTOSIS, TYPE 2
» CRANIOSYNOSTOSIS, BOSTON-TYPE

604757  

MTM1  (MYOTUBULARIN)

300415

MYOTUBULAR MYOPATHY (X-LINKED) 

310400

.

MTP 157147 ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
200100 . 

MUT (METHYLMALONYL CoA MUTASE,MCM)

251000.

METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY
» MMA DUE TO MCM DEFICIENCY
» MCM DEFICIENCY

251000

.

MVK  (MEVALONATE KINASE)

251170

HYPER-IGD SYNDROME 
» PERIODIC FEVER, DUTCH TYPE 

260920

.

MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC)

600958 HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
115197 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED)

164840

FEINGOLD SYNDROME
» OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
» MMT SYNDROME

164280 Whole Gene or Deletions

MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF)

604933  COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 608456  

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

160720

ARTHROGRYPOSIS, DISTAL, TYPE 2A
» FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY

193700 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

 601680 All 39 Exons or Exons 5, 14, 15, 17, 21 or Exons 17 and 21

MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA)

160760 HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
192600 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1
CARDIOMYOPATHY, DILATED, TYPE 1S 160760 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

MYOPATHY, MYOSIN STORAGE
» MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT)

608358 See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

MYOPATHY, DISTAL 1, MPD1
» LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)

160500  See also MYH7 MYBPC3, TNNT2, TNNI3 and TPM1

MYH7
MYBPC3
TNNT2
TNNI3
TPM1

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» DILATED CARDIOMYOPATHY

  106 Exons
MYH9 (MYOSIN, HEAVY CHAIN 9)
160775 MAY-HEGGLIN ANOMALY
» DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS
» MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS
155100 . 
SEBASTIAN SYNDROME
» SEBASTIAN PLATELET SYNDROME
605249 . 
FECHTNER SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS
» ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA
153640 . 
EPSTEIN SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS
» ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA
153650 . 
DEAFNESS, DFNA17
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 17
603622 . 
MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) 160745

AORTIC ANEURYSM, FAMILIAL THORACIC 4
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS

132900  

MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW)

160781

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2

608758  See ACTC, MYL2 and MYL3

MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN)

160790

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1

608751  See ACTC, MYL2 and MYL3

MYO7A (MYOSIN 7A)

276903

USHER SYNDROME, TYPE 1B, USH1B
» USHER SYNDROME, TYPE 1, NON-ACADIAN VARIETY

276903  
MYOC (MYOCILIN)

601652 GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 137750 See also CYP1B1,
OPTN and
MYOC
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

N

Gene Gene OMIM Disease Disease OMIM Comment

NAGLU (N-ACETYLGLUCOSAMINIDASE, ALPHA)

609701 

MUCOPOLYSACCHARIDOSIS TYPE 3B, MPS3B
» SANFILIPPO SYNDROME B
» N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
» NAGLU DEFICIENCY

252920  

NBS1  (NIBRIN)

602667

NIJMEGEN BREAKAGE SYNDROME, NBS

251260

5 bp Deletion (90% of all mutations) or Whole Gene

NCF1  (p47 PHOX)

233700

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 

233700

.

NCF2  (p67 PHOX)

233710

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 

233710

.

NDP (NORRIN)

310600

NORRIE DISEASE
» ATROPHIA BULBORUM HEREDITARIA
» PSEUDOGLIOMA
» EPISKOPI BLINDNESS
» EXUDATIVE RETINOPATHY (X-LINKED)

310600  
COATS DISEASE 300216  

NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT)

157655

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT)

603846

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ)

602694

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST)

601825

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY)

602141

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1)

161015

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

252010 .
LEIGH SYNDROME 256000 .

NEB (NEBULIN)

161650 NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2 256030 Common Deletion of Exon 55
NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280   CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 607684 .  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F 607734 .  

IKBKG (NEMO)

300248

BLOCH-SULZBERGER DISEASE 
» INCONTINENTIA PIGMENTI 

308300

Whole Gene or 1 Mutation: Exon 4-10 Deletion

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY 
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC WITH IMMUNE DEFICIENCY

300291

Whole Gene or 1 Mutation: Exon 4-10 Deletion

NEU1 (NEURAMINIDASE 1, SIALIDASE)

608272

NEURAMINIDASE DEFICIENCY
» SIALIDOSIS, TYPE 2
» SIALIDOSIS, TYPE 1
» MUCOLIPIDOSIS 1, ML1
» LIPOMUCOPOLYSACCHARIDOSIS
» SIALIDASE DEFICIENCY
» NEUG DEFICIENCY
» CHERRY RED SPOT--MYOCLONUS SYNDROME
» MYOCLONUS--CHERRY RED SPOT SYNDROME

256550

 
NEUROD1 (BETA2)
601724  MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, MODY6 606394  .
DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO
125853  .

NF1  (NEUROFIBROMIN)

162200

NEUROFIBROMATOSIS, TYPE 1, NF1
» VON RECKLINGHAUSEN DISEASE 

162200

At least 15 (adults) or 5 ml (children) EDTA-blood has to arrive at room temperature within 48 hrs after withdrawal

NF2 (NEUROFIBROMIN 2, MERLIN, SCHWANNOMIN)
607379 NEUROFIBROMATOSIS TYPE 2, NF2
» NEUROFIBROMATOSIS, CENTRAL TYPE
» ACOUSTIC SCHWANNOMAS, BILATERAL
» BILATERAL ACOUSTIC NEUROFIBROMATOSIS
» ACOUSTIC NEURINOMA
101000 .

NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MALIN)

608072

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

254780  
NHS 300457

NANCE-HORAN SYNDROME
» CATARACT-DENTAL SYNDROME
» CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH
» MESIODENS-CATARACT SYNDROME

302350 .

NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1)

608145 FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 600363 Whole Gene
NIPBL 608667  CORNELIA DE LANGE SYNDROME
» BRACHMANN-DE LANGE SYNDROME
122470  .     

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

600584 ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900  
TETRALOGY OF FALLOT 187500  
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE .   
VARIOUS HEART MALFORMATIONS .   

NLGN3 (NEUROLIGIN 3)

300336

AUTISM (X-LINKED)

300425

.

ASPERGER SYNDROME (X-LINKED) 300494 .
NLGN4 (NEUROLIGIN 4)
 

AUTISM (X-LINKED)

300425

.

ASPERGER SYNDROME (X-LINKED) 300494 .
NLGN3 AND NLGN4  

AUTISM (X-LINKED)

300425

.

ASPERGER SYNDROME (X-LINKED) 300494 .

NOG  (NOGGIN)

602991

PROXIMAL SYMPHALANGISM 

185800

.

MULTIPLE SYNOSTOSIS SYNDROME 1 

186500

.

TARSAL-CARPAL COALITION SYNDROME 

186570

.

STAPES ANKYLOSIS 
» TEUNISSEN-CREMERS SYNDROME 

184460

.

NOTCH3

600276

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL

125310

Whole Gene

Exons 3 and 4 harboring the majority of mutations
NPC1 607623  NIEMANN-PICK DISEASE, TYPE C1, NPC1
» NIEMANN-PICK DISEASE, TYPE D
» NIEMANN-PICK DISEASE, NOVA SCOTIAN TYPE

257220

 
NPC2 601015 NIEMANN-PICK DISEASE, TYPE C2 607625  
NPHP1 (NEPHROCYSTIN)
607100 NEPHRONOPHTHISIS, TYPE 1 256100 Common Deletion
SENIOR-LOKEN SYNDROME
» RENAL - RETINAL SYNDROME
» JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS
» RENAL DYSPLASIA AND RETINAL APLASIA
266900 Common Deletion
JOUBERT SYNDROME 4, JBTS4 609583 Common Deletion
NPHP2 (NEPHROCYSTIN 2, INVS, INVERSIN) 243305 NEPHRONOPHTHISIS, TYPE 2
» NEPHRONOPHTHISIS, INFANTILE

602088

 
NPHP3 (NEPHROCYSTIN 3) 608002 NEPHRONOPHTHISIS, TYPE 3
» NEPHRONOPHTHISIS, ADOLESCENT
604387  
NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) 607215 NEPHRONOPHTHISIS, TYPE 4
» NEPHRONOPHTHISIS, JUVENILE
606966  
SENIOR-LOKEN SYNDROME 4    
NPHS1 (NEPHRIN)
602716 NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1
» FINNISH CONGENITAL NEPHROSIS
256300 . 
NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1
» FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)
600995 . 
NPHS2 (PODOCIN)
604766 NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1
» FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)
600995 . 
NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1
» FINNISH CONGENITAL NEPHROSIS
256300 . 
NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) 108961 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA
602875  
NR3C1 138040   GLUCOCORTICOID RECEPTOR DEFICIENCY
» GLUCOCORTICOID RESISTANCE
» CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
» PSEUDOHERMAPHRODITISM WITH HYPOKALEMIA DUE TO GLUCOCORTICOID RESISTANCE
138040 .  
NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, MR, ALDOSTERONE RECEPTOR) 600983 PSEUDOHYPOALDOSTERONISM, TYPE 1 (AUTOSOMAL DOMINANT) 177735  
HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) 605115  

NSD1

606681

CEREBRAL GIGANTISM 
» SOTOS SYNDROME 

117550

At least 20mg DNA is needed

NTRK1

191315

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA
» NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4
» FAMILIAL DYSAUTONOMIA, TYPE 2

256800  
THYROID CARCINOMA, FAMILIAL MEDULLARY 155240  

NYX (NYCTALOPIN)

300278

NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
» HEMERALOPIA-MYOPIA
» MYOPIA-NIGHT BLINDNESS
» NYCTALOPIA

310500  
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

O

Gene Gene OMIM Disease Disease OMIM Comment
OA1

300500 

ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM

 300500  
OCA1 (TYR, TYROSINASE) 606933 OCULOCUTANEOUS ALBINISM, TYPE 1, OCA1 (TYROSINASE-NEGATIVE )
203100 Whole Gene
OCA1 and OCA2   OCULOCUTANEOUS ALBINISM   2 Whole Genes

OCA2 (P gene)

203200

OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)
» PINK-EYED DILUTION
» BROWN OCULOCUTANEOUS ALBINISM, BOCA

203200

Whole Gene or Common Deletion

OCRL1

309000.

LOWE OCULOCEREBRORENAL SYNDROME, OCRL 

309000

.

DENT NEPHROCALCINOSIS 300009

.

OPA1 605290

OPTIC ATROPHY 1
» OPTIC ATROPHY, JUVENILE
» KJER TYPE OPTIC ATROPHY
» OPTIC ATROPHY, DEAFNESS, OPHTHALMOPLEGIA, AND MYOPATHY

165500 .

OPTN (OPTINEURIN)

602432 GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 137760 See also CYP1B1,
OPTN and
MYOC

OTC  (ORNITHINE CARBAMOYL TRANSFERASE GENE)

311250

ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY 

311250

.

OTOF (OTOFERLIN)

603681 

DEAFNESS, DFNB9
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9
» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1

601071  
 


A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-R-S-T-U-V-W-X-Y-Z

P

Gene Gene OMIM Disease Disease OMIM Comment

P16  (CDKN2)

600160

CUTANEOUS MALIGNANT MELANOMA 2, CMM2

155601

.

MALIGNANT MELANOMA WITH NEURAL CELL TUMORS 
» MELANOMA-ASTROCYTOMA SYNDROME 

155755

.

P53  (TP53)

191170

LI-FRAUMENI SYNDROME 1

151623

Whole Gene or Exons 5-8

OSTEOSARCOMA 

259500

Whole Gene or Exons 5-8

BREAST CANCER, FAMILIAL 

114480

Whole Gene or Exons 5-8

PEDIATRIC ADRENOCORTICAL CARCINOMA 

202300

Whole Gene or Exons 5-8

P63  (TP63)

603273

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1
» ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 1

129900

Exons 5-8, 13 and 14

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3
» ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 3

604292

Exons 5-8, 13 and 14

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 
» ADULT SYNDROME 

103285

Exons 5-8, 13 and 14

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE 
» HAY-WELLS SYNDROME 

106260

Exons 5-8, 13 and 14

LIMB-MAMMARY SYNDROME 

603543

Exons 5-8, 13 and 14

SPLIT HAND - SPLIT FOOT, TYPE 4, SHFM4

605289

Exons 5-8, 13 and 14

PABPN1  (PAB2, POLYA BINDING PROTEIN)

602279

OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) 
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT)

164300

Repeat

OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) 
» MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE)

257950

Repeat

PAFAH1B1  (LIS1)

601545

LISSENCEPHALY 1, LIS1
» SUBCORTICAL LAMINAR HETEROTOPIA
» SUBCORTICAL BAND HETEROTOPIA

607432

Whole Gene or Deletions

MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS 247200 Whole Gene or Deletions

PAH  (PHENYLALANINE HYDROXYLASE)

261600

PHENYLKETONURIA, PKU
» HYPERPHENYLALANINEMIA 
» FOLLING DISEASE 

261600

Whole Gene or Exons 3, 4, 5, 7 and 12

PANK2  (PANTOTHENATE KINASE 2)

606157

HALLERVORDEN-SPATZ DISEASE 
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN

» NEUROAXONAL DYSTROPHY, JUVENILE-ONSET

234200

.

HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION) 607236

.

PARKIN (PARK2)
602544  PARKINSON DISEASE, TYPE 2, PARK2 (AUTOSOMAL RECESSIVE) 600116 Whole Gene or Deletions
PAX2 (PAIRED BOX GENE 2)  167409 RENAL-COLOBOMA SYNDROME
» PAPILLORENAL SYNDROME
120330  
RENAL HYPOPLASIA 191830  

PAX3 (PAIRED BOX GENE 3)

606597

WAARDENBURG SYNDROME, TYPE 1, WS1

193500

Whole Gene or Deletion Analysis (MLPA)

WAARDENBURG SYNDROME, TYPE 3, WS3
» KLEIN-WAARDENBURG SYNDROME 

148820

.

PAX6 (PAIRED BOX GENE 6)

607108

ANIRIDIA, TYPE 2, AN2

106210

Whole Gene or Deletion Analysis (MLPA)

KERATITIS 

148190

Whole Gene or Deletion Analysis (MLPA)

ECTOPIA PUPILLAE 

129750

Whole Gene or Deletion Analysis (MLPA)

FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME 

136520

Whole Gene or Deletion Analysis (MLPA)

PETERS ANOMALY 

604229

Whole Gene or Deletion Analysis (MLPA)

CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY 

.

Whole Gene or Deletion Analysis (MLPA)

PAX8 (PAIRED BOX GENE 8)

167415

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2
» THYROID DYSGENESIS
» THYROID AGENESIS
» THYROID HYPOPLASIA
» THYROID, ECTOPIC
» HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
» HYPOTHYROIDISM, ATHYREOTIC
» THYROTROPIN RESISTANCE

218700  
PAX9 (PAIRED BOX GENE 9) 167416 HYPODONTIA/OLIGODONTIA 3
» TOOTH AGENESIS, SELECTIVE, 3
604625  
PCCA (PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT) 232000 PROPIONIC ACIDEMIA
» PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA
606054  
PCCB (PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT)  232050 PROPIONIC ACIDEMIA
» PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA
 606054  

PDCD10 (PROGRAMMED CELL DEATH 10, TFAR15)

609118 CEREBRAL CAVERNOUS MALFORMATIONS 3, CCM3 609118 See also CCM1,
CCM2 and
PDCD10

PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1)

300502 CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF
220110 .
LEIGH SYNDROME 256000 .

PYRUVATE DECARBOXYLASE DEFICIENCY
» ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
» PYRUVATE DEHYDROGENASE DEFICIENCY
» PDH DEFICIENCY
» ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY
» ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
» THIAMINE-RESPONSIVE LACTIC ACIDEMIA
» PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY

312170  

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

602136

ZELLWEGER SYNDROME
» CEREBROHEPATORENAL SYNDROME

214100 Exons 13 and 15
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 Exons 13 and 15

REFSUM DISEASE, INFANTILE FORM
» INFANTILE PHYTANIC ACID STORAGE DISEASE

266510 Exons 13 and 15
PEX2, PEX10, PEX12 and PEX26  

ZELLWEGER SYNDROME
» CEREBROHEPATORENAL SYNDROME

 214100 PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)

REFSUM DISEASE, INFANTILE FORM
» INFANTILE PHYTANIC ACID STORAGE DISEASE

266510 PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)

PEX7 (PEROXISOME BIOGENESIS FACTOR 7, PEROXIN 7,
PEROXISOMAL PTS2 RECEPTOR)

601757 

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
» CHONDRODYSTROPHIA CALCIFICANS PUNCTATA

215100  
PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE)  606800 GLYCOGEN STORAGE DISEASE, TYPE 7
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY
 232300  

PHEX

307800

HYPOPHOSPHATEMIC RICKETS (X-LINKED) 
» VITAMIN D-RESISTANT RICKETS (X-LINKED) 
» RICKETS, HYPOPHOSPHATEMIC RICKETS (X-LINKED)

307800

.

PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) 311870 GLYCOGEN STORAGE DISEASE, TYPE 9D
» GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED)
300559  
PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) 306000 GLYCOGEN STORAGE DISEASE, TYPE 9A
» GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8
 306000  
PHKG1 (PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1) 172470      

PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2)

172471

GLYCOGEN STORAGE DISEASE, TYPE 9C
» GSD TYPE 9C
» GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)

172471  
CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY 172471  

PHOX2B

603851

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME

209880

.

. 
HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA .   

PI  (ANTITRYPSINE, PROTEASE INHIBITOR)

107400

ANTITRYPSINE DEFICIENCY, AAT

107400

Alleles M, S and Z

PINK1 608309  PARKINSON DISEASE, TYPE 6, PARK6 (AUTOSOMAL RECESSIVE) 605909 Whole Gene or Deletions
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) 601542   RIEGER SYNDROME, TYPE 1, RIEG1
» AXENFELD-RIEGER SYNDROME
180500 ...
IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA
137600  
PETERS ANOMALY 604229  
PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)
601313
AND
173910
ADULT POLYCYSTIC KIDNEYS, PKD, ADPKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
173900 2 Genes
PKHD1 (FIBROCYSTIN, POLYDUCTIN) 606702 POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL RECESSIVE), ARPKD
» POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE 1
» POLYCYSTIC KIDNEY AND HEPATIC DISEASE
» CAROLI DISEASE
» RENAL-HEPATIC-PANCREATIC DYSPLASIA
263200 Various Exons (80% of Mutations)

PKP2 (PLAKOPHILIN 2)

602861

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 9

609040  
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604  HALLERVORDEN-SPATZ DISEASE 
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN
» NEUROAXONAL DYSTROPHY, JUVENILE-ONSET
234200  
KARAK SYNDROME 608395  
NEUROAXONAL DYSTROPHY, INFANTILE (INAD) 256600  
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED 610217  
PLEC1 (PLECTIN 1)
601282 LIMB-GIRDLE MUSCULAR DYSTROPHY WITH EPIDERMOLYSIS BULLOSA SIMPLEX 226670 . 
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
» EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1
131950 . 

PLP1 (PROTEOLIPID PROTEIN 1, PLP)

 

300401

 

PELIZAEUS-MERZBACHER DISEASE, PMD

312080

Whole Gene or Duplication

Preferably EDTA-blood

FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 312920 Whole Gene or Duplication

Preferably EDTA-blood

PMP22  (PERIPHERAL MYELIN PROTEIN)

601097

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1A, HMSN1A

118220

Whole Gene or
Duplication

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP
» TOMACULOUS NEUROPATHY 

162500

Whole Gene or
Deletion

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
» DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY 

145900

Whole Gene

CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 

118300

Whole Gene or
Duplication

PNPO (PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE, PYRIDOXAMINE-PHOSPHATE OXIDASE)

603287 

PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
» PNPO DEFICIENCY
» EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED

610090  

POLG (POLYMERASE, DNA, GAMMA)

   
174763   

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA (AUTOSOMAL DOMINANT), 1
» PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH HYPOGONADISM
» OCULAR MYOPATHY WITH HYPOGONADISM
» MYOPATHY, CATARACT, HYPOGONADISM SYNDROME

157640 .
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE)
» SPINOCEREBELLAR ATAXIA WITH EPILEPSY
» ALPERS SYNDROME
258450  .

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
»  SPINOCEREBELLAR ATAXIA WITH EPILEPSY

607459

.

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

203700 .
POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015 ANTLEY-BIXLER SYNDROME
» TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
» MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
» OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES
207410 . 
DISORDERED STEROIDOGENESIS, ISOLATED .  . 
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY
» ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO MULTIPLE MICROSOMAL MIXED FUNCTION OXIDASE DEFICIENCY
201750 . 
POU1F1 (POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1, GROWTH HORMONE FACTOR 1, PIT1)
173110  PITUITARY HORMONE DEFICIENCY, COMBINED 173110  

POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4)

300039

DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3
» PERILYMPHATIC GUSHER-DEAFNESS SYNDROME

  .   

PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)

601487   OBESITY 601665 2 Mutations: P12A and P115Q

DIABETES MELLITUS, NONINSULIN-DEPENDENT
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO

125853 2 Mutations: P12A and P115Q

PPP2R2B (PROTEIN PHOSPHATASE 2, REGULATORY SUBUNIT B, BETA)

604325  SPINOCEREBELLAR ATAXIA 12, SCA12

604326

 

PPT (PALMITOYL-PROTEIN ESTERASE)

..

See CLN1 

.

.

PQBP1 (POLYGLUTAMINE-BINDING PROTEIN 1)

300463

MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3
» SUTHERLAND-HAAN MENTAL RETARDATION SYNDROME (X-LINKED)
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE55, MRX55

309470

See also Mental Retardation Panel

PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) 170280  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 603553 See also PRF1, STX11, UNC13D
PRF1, STX11, UNC13D HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL    

PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)

602743 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME 600858  

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
» PHOSPHORYLASE KINASE DEFICIENCY OF HEART
» GLYCOGEN STORAGE DISEASE OF HEART

261740  

PRKAR1A

188830

CARNEY COMPLEX, TYPE 1 
» PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE 

160980

.

CARDIAC MYXOMA 

255960

.

PRKCG (PROTEIN KINASE C, GAMMA, PKCC)
176980  SPINOCEREBELLAR ATAXIA 14, SCA14 605361  

PRNP (PRION PROTEIN)

176640

CREUTZFELDT-JAKOB DISEASE, CJD

123400

DNA obtained after phenol extraction

GERSTMANN-STRAUSSLER DISEASE, GSD 137440
INSOMNIA-DYSAUTONOMIA
» FAMILIAL FATAL INSOMNIA
600072
HUNTINGTON DISEASE-LIKE 1, HDL1 603218

PROC (PROTEIN C)

176860

THROMBOEMBOLISM 

176860

.

PROP1 (PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR)
601538  PITUITARY DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM
» HANHART DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE
» PITUITARY HORMONE DEFICIENCY, COMBINED
262600  

PROS1 (PROTEIN S)

176880

THROMBOEMBOLISM 

176880

.

PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS)

179605 RETINITIS PIGMENTOSA 7, RP7 608133  

FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS

136880  
MACULAR DYSTROPHY    

MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET

608161  

PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
» MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
» BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM

169150  

STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1

248200  
PRSS1 (PROTEASE, SERINE 1) 276000 PANCREATITIS, HEREDITARY, PCTT 167800 Exons 1-3

Includes SPINK1 (Exon 3)

PRX (PERIAXIN)

605725

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3

145900  
PSAP (PROSAPOSIN) 176801 METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY
» GAUCHER DISEASE DUE TO SAP2 DEFICIENCY
» PROSAPOSIN DEFICIENCY
249900  

PSEN1 (PRESENILIN 1, PS1)

104311

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

.

PSEN2 (PRESENILIN 2, PS2)

600759

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

.

PSTPIP1 (PROLINE/ SERINE/ THREONINE PHOSPHATASE-INTERACTING PROTEIN 1) 606347  PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
» PAPA SYNDROME
» FAMILIAL RECURRENT ARTHRITIS
604416  

PTCH (PATCHED, PTC)

601309

BASAL CELL NEVUS SYNDROME 
» GORLIN SYNDROME 

109400

.

HOLOPROSENCEPHALY 7, HPE7

601309

.

PTEN

601728