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Gene finder

Download current versionVersion 1.1 November 2025
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GENE

AARS2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ovarioleukodystrophy; Combined oxidative phosphorylation defect type 8

COMMENTS

GENE

ABCA3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Interstitial lung disease due to ABCA3 deficiency

COMMENTS

GENE

ABCB11

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Progressive familial intrahepatic cholestasis type 2

COMMENTS

GENE

ABCC6*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pseudoxanthoma elasticum; Generalized arterial calcification of infancy type 2

COMMENTS

GENE

ABCC8

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Permanent neonatal diabetes mellitus type 3; Hyperinsulinemic hypoglycemia familial type 1

COMMENTS

GENE

ABCD1*

MODE OF INHERITANCE
X-linked
DISEASE

Adrenomyeloneuropathy

COMMENTS

GENE

ACADM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Medium-chain acyl-CoA dehydrogenase deficiency

COMMENTS

GENE

ACADVL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Very long-chain acyl-CoA dehydrogenase deficiency

COMMENTS

GENE

ADGRV1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 2

COMMENTS

GENE

AGA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Aspartylglucosaminuria

COMMENTS

GENE

AGL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycogen storage disease type 3A/3B

COMMENTS

GENE

AGXT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary hyperoxaluria type 1

COMMENTS

GENE

AIFM1

MODE OF INHERITANCE
X-linked
DISEASE

AIFM1 related disorders

COMMENTS

GENE

AIRE

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Autoimmune polyendocrinopathy type 1

COMMENTS

GENE

ALDH5A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Succinic semialdehyde dehydrogenase deficiency

COMMENTS

GENE

ALDH7A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pyridoxine-dependent epilepsy type 4

COMMENTS

GENE

ALDOB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hereditary fructose intolerance

COMMENTS

GENE

ALMS1*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Alström syndrome

COMMENTS

GENE

ALOX12B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital ichthyosis type 2

COMMENTS

GENE

ALOXE3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital ichthyosis type 3

COMMENTS

GENE

ALPL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Infantile hypophosphatasia

COMMENTS

GENE

AR

MODE OF INHERITANCE
X-linked
DISEASE

Androgen insensitivity syndrome

COMMENTS

The current testing method does not assess CAG trinucleotide repeats in exon 1 in this gene.

GENE

ARSA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Metachromatic leukodystrophy

COMMENTS

GENE

ARSB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mucopolysaccharidose type 6

COMMENTS

GENE

ASL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Argininosuccinic aciduria

COMMENTS

GENE

ASPA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Canavan disease

COMMENTS

GENE

ASPM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Autosomal recessive primary microcephaly type 5

COMMENTS

GENE

ASS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Citrullinemia type 1

COMMENTS

GENE

ATM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ataxia-telangiectasia

COMMENTS

GENE

ATP7B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Wilson disease

COMMENTS

GENE

ATR

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Seckel syndrome type 1

COMMENTS

GENE

ATRX

MODE OF INHERITANCE
X-linked
DISEASE

ATR-X syndrome

COMMENTS

GENE

B3GLCT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Peters plus syndrome

COMMENTS

GENE

BBS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Bardet-Biedl syndrome type 1

COMMENTS

GENE

BBS10

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Bardet-Biedl syndrome type 10

COMMENTS

GENE

BBS2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Retinitis pigmentosa type 74; Bardet-Biedl syndrome type 2

COMMENTS

GENE

BCKDHA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Maple syrup urine disease type 1A

COMMENTS

GENE

BCKDHB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Maple syrup urine disease type 1B

COMMENTS

GENE

BCS1L

MODE OF INHERITANCE
Autosomal recessive
DISEASE

GRACILE syndrome; Björnstad syndrome; Isolated complex III deficiency

COMMENTS

GENE

BGN

MODE OF INHERITANCE
X-linked
DISEASE

Meester-Loeys syndrome; X-linked spondyloepimetaphyseal dysplasia

COMMENTS

GENE

BRIP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fanconi anemia group J

COMMENTS

GENE

BTD

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Biotinidase Deficiency

COMMENTS

NM_001370658.1:c.1270G>C (p.Asp424His) variant is not reported, due to low disease penetrance and its association to reduced enzyme activity in the homozygous state.

GENE

BTK

MODE OF INHERITANCE
X-linked
DISEASE

Isolated growth hormone deficiency type 3; X-linked agammaglobulinemia

COMMENTS

GENE

CAPN3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Limb-girdle muscular dystrophy type 2A

COMMENTS

GENE

CASK

MODE OF INHERITANCE
X-linked
DISEASE

FG syndrome type 4; X-linked intellectual developmental disorder, Najm type

COMMENTS

GENE

CBS

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Classical homocystinuria

COMMENTS

GENE

CC2D2A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

CC2D2A related disorders

COMMENTS

GENE

CCDC103

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 17

COMMENTS

GENE

CCDC40

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 15

COMMENTS

GENE

CD40LG

MODE OF INHERITANCE
X-linked
DISEASE

Immunodeficiency with hyper-IgM type 1

COMMENTS

GENE

CDH23

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 1D; Deafness autosomal recessive type 12

COMMENTS

GENE

CEP152

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Autosomal recessive primary microcephaly type 9; Seckel syndrome type 5

COMMENTS

GENE

CEP290*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

CEP290 related disorders

COMMENTS

Deep intronic variant NM_025114.4:c.2991+1655A>G not included.

GENE

CFI

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Complement factor I deficiency

COMMENTS

GENE

CFTR

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cystic fibrosis

COMMENTS

Only variants associated with classical Cystic Fibrosis are reported. Intron 8 polymorphic region in CFTR gene (5T allele) is only reported when the NM_000492.4:c.350G>A (p.Arg117His) variant is detected.

GENE

CHM

MODE OF INHERITANCE
X-linked
DISEASE

Choroideremia

COMMENTS

GENE

CHRNE

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital myasthenic syndrome type 4A, 4B, 4C

COMMENTS

GENE

CHRNG

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Lethal multiple pterygium syndrome; Escobar syndrome

COMMENTS

GENE

CLCN1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Myotonia congenita

COMMENTS

GENE

CLCN5

MODE OF INHERITANCE
X-linked
DISEASE

CLCN5 related disorders

COMMENTS

GENE

CLRN1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 3A

COMMENTS

GENE

CNGA3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Achromatopsia type 2

COMMENTS

GENE

CNGB3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Achromatopsia type 3

COMMENTS

GENE

COL18A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Knobloch syndrome type 1

COMMENTS

GENE

COL4A3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Alport syndrome type 3B

COMMENTS

GENE

COL4A5

MODE OF INHERITANCE
X-linked
DISEASE

Alport syndrome type 1

COMMENTS

GENE

COL6A2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ullrich congenital muscular dystrophy type 1B; Bethlem muscular dystrophy type 1B

COMMENTS

GENE

COL6A3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Bethlem muscular dystrophy type 1C; Ullrich congenital muscular dystrophy type 1C; Primary dystonia, DYT27 type

COMMENTS

GENE

COL7A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Dystrophic epidermolysis bullosa COL7A1-Related

COMMENTS

GENE

COLQ

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital myasthenic syndrome type 5

COMMENTS

GENE

COQ8A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary coenzyme Q10 deficiency type 4

COMMENTS

GENE

CPLANE1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Orofaciodigital syndrome type 6; Joubert syndrome type 17

COMMENTS

GENE

CPS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Carbamoyl-phosphate synthetase 1 deficiency

COMMENTS

GENE

CPT2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Carnitine palmitoyltransferase deficiency type 2

COMMENTS

GENE

CRB1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Leber congenital amaurosis type 8; Retinitis pigmentosa type 12

COMMENTS

GENE

CRB2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Focal segmental glomerulosclerosis type 9; Ventriculomegaly-cystic kidney disease

COMMENTS

GENE

CTC1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Coats plus syndrome

COMMENTS

GENE

CTNS

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nephropathic cystinosis

COMMENTS

GENE

CUL4B

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder, Cabezas type

COMMENTS

GENE

CYBB

MODE OF INHERITANCE
X-linked
DISEASE

Immunodeficiency 34; Chronic granulomatous disease

COMMENTS

GENE

CYP1B1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital glaucoma type 3A; Anterior segment developmental anomaly

COMMENTS

GENE

CYP21A2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

COMMENTS

Whole gene analysis is not performed. Included variants: NM_000500.9:c.293-13C/A>G, NM_000500.9:c.332_339del, NM_000500.9:c.518T>A, NM_000500.9:c.710T>A, NM_000500.9:c.713T>A, NM_000500.9:c.719T>A, NM_000500.9:c.923dup, NM_000500.9:c.955C>T, NM_000500.9:c.1069C>T, 30kb deletion, Large gene conversion. NM_000500.9:c.955C>T variant is only reported when a CYP21A2 gene duplication is not detected. c.955C>T variant along witht the gene duplication has been rerported to be frequently found on the same chromosome (in cis), which results in the presence of two functional copies of the gene. In such cases, the individual is not considered a carrier for Congenital Adrenal Hyperplasia (Parajes et al., 2008; Kleinle et al., 2009)." ;CYP27A1;2;Autosomal recessive;Cerebrotendinous xanthomatosis; ;CYP7B1;8;Autosomal recessive;"Spastic paraplegia type 5A; Congenital bile acid synthesis defect type 3

GENE

DCX

MODE OF INHERITANCE
X-linked
DISEASE

Lissencephaly type 1; Subcortical band heterotopia

COMMENTS

GENE

DDX11

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Warsaw breakage syndrome

COMMENTS

GENE

DGAT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital chronic diarrhea with protein-losing enteropathy

COMMENTS

GENE

DHCR7

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Smith-Lemli-Opitz syndrome

COMMENTS

GENE

DHDDS

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Retinitis pigmentosa type 59

COMMENTS

GENE

DLD

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pyruvate dehydrogenase E3 deficiency

COMMENTS

GENE

DLG3

MODE OF INHERITANCE
X-linked
DISEASE

Intellectual developmental disorder type 90

COMMENTS

GENE

DMD

MODE OF INHERITANCE
X-linked
DISEASE

Duchenne muscular dystrophy; Becker muscular dystrophy

COMMENTS

GENE

DNAAF1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 13

COMMENTS

GENE

DNAH11*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 7

COMMENTS

GENE

DNAH5

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 3

COMMENTS

GENE

DNAI1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 1

COMMENTS

GENE

DNAJC12

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hyperphenylalaninemia due to DNAJC12 deficiency

COMMENTS

GENE

DOCK6

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Adams-Oliver syndrome type 2

COMMENTS

GENE

DOCK8

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Combined immunodeficiency due to DOCK8 deficiency

COMMENTS

GENE

DOK7

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fetal akinesia deformation sequence; Congenital myasthenic syndrome type 10

COMMENTS

GENE

DPYD

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Dihydropyrimidine dehydrogenase deficiency

COMMENTS

GENE

DYNC2H1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Short rib-polydactyly syndrome type 3

COMMENTS

GENE

DYSF

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Limb-girdle muscular dystrophy type 2B; Miyoshi myopathy; Distal myopathy with anterior tibial onset

COMMENTS

GENE

EDA

MODE OF INHERITANCE
X-linked
DISEASE

Hypohidrotic ectodermal dysplasia type 1

COMMENTS

GENE

EIF2B5

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Leukoencephalopathy with vanishing white matter type 5

COMMENTS

GENE

ELP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Familial dysautonomia

COMMENTS

GENE

EMD

MODE OF INHERITANCE
X-linked
DISEASE

Emery-Dreifuss muscular dystrophy type 1

COMMENTS

GENE

ERCC2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Xeroderma pigmentosum group D; Trichothiodystrophy type 1

COMMENTS

GENE

ERCC6*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cockayne syndrome type B; Cerebrooculofacioskeletal syndrome type 1; UV-sensitive syndrome type 1

COMMENTS

GENE

ETFDH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glutaric aciduria type 2C

COMMENTS

GENE

EVC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ellis Van Creveld syndrome

COMMENTS

GENE

EYS*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Retinitis pigmentosa type 25

COMMENTS

GENE

F8*

MODE OF INHERITANCE
X-linked
DISEASE

Hemophilia A

COMMENTS

Detection of intron 22 inversion in the F8 gene is also included

GENE

F9

MODE OF INHERITANCE
X-linked
DISEASE

Hemophilia B

COMMENTS

GENE

FANCA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fanconi anemia group A

COMMENTS

GENE

FANCC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fanconi anemia group C

COMMENTS

GENE

FANCI

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fanconi anemia group I

COMMENTS

GENE

FH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fumarase deficiency

COMMENTS

GENE

FHL1*

MODE OF INHERITANCE
X-linked
DISEASE

FHL1 related disorders

COMMENTS

GENE

FKRP

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Muscular dystrophy-dystroglycanopathy type 5A, 5B, 5C

COMMENTS

GENE

FKTN

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Muscular dystrophy-dystroglycanopathy type 4A, 4B, 4C

COMMENTS

GENE

FLNA

MODE OF INHERITANCE
X-linked
DISEASE

FLNA related disorders

COMMENTS

GENE

FMR1

MODE OF INHERITANCE
X-linked
DISEASE

Fragile X syndrome

COMMENTS

5' UTR CGG trinucleotide repeats are analysed. Only alleles in the range of full mutation (>200 repeats) and premutation (55-200 repeats) are reported. Mosaicism, including gonadal mosaicism, may not be detected.

GENE

FOXP3

MODE OF INHERITANCE
X-linked
DISEASE

IPEX syndrome

COMMENTS

GENE

FRAS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fraser syndrome type 1

COMMENTS

GENE

G6PC1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycogen storage disease type 1A

COMMENTS

GENE

GAA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pompe disease

COMMENTS

GENE

GALC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Krabbe disease

COMMENTS

GENE

GALNS

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mucopolysaccharidosis type 4A

COMMENTS

GENE

GALT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Galactosemia

COMMENTS

GENE

GATM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cerebral creatine deficiency syndrome type 3

COMMENTS

GENE

GBE1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycogen storage disease type 4; Adult polyglucosan body disease

COMMENTS

GENE

GCDH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glutaricaciduria type 1

COMMENTS

GENE

GDF1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ivemark syndrome

COMMENTS

GENE

GFPT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital myasthenic syndrome type 12

COMMENTS

GENE

GJB2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 1A

COMMENTS

Variants associated with a mild phenotype are not reported.

GENE

GJB3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Erythrokeratodermia variabilis type 1

COMMENTS

Variants associated with a mild phenotype are not reported.

GENE

GJB6

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 1B

COMMENTS

Variants associated with a mild phenotype are not reported.

GENE

GLA

MODE OF INHERITANCE
X-linked
DISEASE

Fabry disease

COMMENTS

GENE

GLB1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

GM1 gangliosidosis type 1,2,3; Mucopolysaccharidosis type 4B

COMMENTS

GENE

GLDC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycine encephalopathy type 1

COMMENTS

GENE

GLE1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Lethal congenital contracture syndrome type 1; Arthrogryposis-anterior horn cell disease syndrome

COMMENTS

GENE

GMPPB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Muscular dystrophy due to dystroglycanopathy type 14A, 14B ,14C

COMMENTS

GENE

GPR143

MODE OF INHERITANCE
X-linked
DISEASE

X-linked recessive ocular albinism; Congenital Nystagmus type 6

COMMENTS

GENE

GUCY2D

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Leber congenital amaurosis type 1; Cone rod dystrophy type 6; Congenital stationary night blindness type 1I

COMMENTS

GENE

HADHA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Mitochondrial trifunctional protein deficiency

COMMENTS

GENE

HBA1-2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Alpha-thalassemia

COMMENTS

Whole gene analysis is not performed. Included variants: --MED ; --SEA ; --THAI ; - α3.7 ; - α4.2 ; - α20.5 ; --FIL; Hb Constant Spring (NM_000517.4:c.427T>C)" ;HBB;11;Autosomal recessive;"Beta-thalassemia; Sickle cell disease

GENE

HERC2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Developmental delay with autism spectrum disorder and gait instability

COMMENTS

GENE

HEXA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Tay-Sachs disease

COMMENTS

GENE

HEXB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Sandhoff disease

COMMENTS

GENE

HMGCL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

HMG-CoA lyase deficiency

COMMENTS

GENE

HPRT1

MODE OF INHERITANCE
X-linked
DISEASE

Kelley-Seegmiller syndrome; Lesch-Nyhan syndrome

COMMENTS

GENE

HUWE1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder, Tuner type

COMMENTS

GENE

HYLS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hydrolethalus Syndrome

COMMENTS

GENE

IDS*

MODE OF INHERITANCE
X-linked
DISEASE

Mucopolysaccharidosis type 2

COMMENTS

GENE

IDUA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mucopolysaccharidosis type 1

COMMENTS

GENE

IL10RA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

IL10-related early-onset inflammatory bowel disease type 28

COMMENTS

GENE

IL1RAPL1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder type 21

COMMENTS

GENE

IL2RG

MODE OF INHERITANCE
X-linked
DISEASE

X-linked combined immunodeficiency

COMMENTS

GENE

IQSEC2

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder type 1

COMMENTS

GENE

ITGB4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Junctional epidermolysis bullosa with pyloric atresia type 5B; Intermediate generalized junctional epidermolysis bullosa type 5A

COMMENTS

GENE

IVD

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Isovaleric acidemia

COMMENTS

GENE

KCNQ1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Jervell and Lange-Nielsen syndrome

COMMENTS

GENE

KDM5C

MODE OF INHERITANCE
X-linked
DISEASE

KDM5C-related syndromic X-linked intellectual developmental disorder

COMMENTS

GENE

L1CAM

MODE OF INHERITANCE
X-linked
DISEASE

MASA syndrome; Hydrocephalus with stenosis of the aqueduct of Sylvius

COMMENTS

GENE

LAMA1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Poretti-Boltshauser syndrome

COMMENTS

GENE

LAMA2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Laminin subunit alpha 2-related congenital muscular dystrophy

COMMENTS

GENE

LIPA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cholesteryl ester storage disease; Wolman disease

COMMENTS

GENE

LMNA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mandibuloacral dysplasia; Emery-Dreifuss muscular dystrophy type 3; Charcot-Marie-Tooth disease type 2B1

COMMENTS

GENE

LOXHD1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 77

COMMENTS

GENE

MBTPS2

MODE OF INHERITANCE
X-linked
DISEASE

Keratosis follicularis spinulosa decalvans; Ichthyosis follicularis-alopecia-photophobia syndrome; Osteogenesis imperfecta type 19

COMMENTS

GENE

MCOLN1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mucolipidosis type 4

COMMENTS

GENE

MCPH1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Autosomal recessive primary microcephaly type 1

COMMENTS

GENE

MECP2

MODE OF INHERITANCE
X-linked
DISEASE

RETT related disorders

COMMENTS

GENE

MKS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Bardet-Biedl syndrome; Joubert syndrome; Meckel syndrome

COMMENTS

GENE

MMACHC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Methylmalonic acidemia with homocystinuria type cblC

COMMENTS

GENE

MMUT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Methylmalonic acidemia type mut0

COMMENTS

GENE

MPL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital amegakaryocytic thrombocytopenia type 1

COMMENTS

GENE

MRE11

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ataxia-telangiectasia-like disorder type 1

COMMENTS

GENE

MTM1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked centronuclear myopathy

COMMENTS

GENE

MVK

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hyperimmunoglobulinemia D syndrome; Mevalonic aciduria

COMMENTS

GENE

MYMK

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Carey-Fineman-Ziter syndrome

COMMENTS

GENE

MYO15A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 3

COMMENTS

GENE

MYO7A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 1B; Deafness autosomal recessive type 2

COMMENTS

GENE

NAGA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Alpha-N-acetylgalactosaminidase deficiency type 1,2,3

COMMENTS

GENE

NAGLU

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Sanfilippo syndrome type B

COMMENTS

GENE

NBAS

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Short stature-optic atrophy-Pelger-Huët anomaly syndrome; Fever-associated acute infantile liver failure syndrome

COMMENTS

GENE

NDP

MODE OF INHERITANCE
X-linked
DISEASE

Familial exudative vitreoretinopathy; Norrie disease

COMMENTS

GENE

NEB*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nemaline myopathy type 2; Arthrogryposis multiplex congenita type 6

COMMENTS

GENE

NEXMIF

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder type 98

COMMENTS

GENE

NFU1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Multiple mitochondrial dysfunctions syndrome type 1; Spastic paraplegia type 93

COMMENTS

GENE

NMNAT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Leber congenital amaurosis type 9; SHILCA syndrome

COMMENTS

GENE

NPC1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Niemann-Pick disease type C1/D

COMMENTS

GENE

NPHP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Senior-Loken syndrome type 1; Nephronophthisis type 1; Joubert syndrome type 4

COMMENTS

Deletions in this gene will not be reported, as the low reported penetrance limits their clinical utility.

GENE

NPHP3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nephronophthisis type 3; Renal-hepatic-pancreatic dysplasia type 1; Meckel syndrome type 7

COMMENTS

GENE

NPHS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nephrotic syndrome type 1

COMMENTS

GENE

NPHS2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nephrotic syndrome type 2

COMMENTS

GENE

NR2E3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Goldmann-Favre syndrome; Retinitis pigmentosa type 37

COMMENTS

GENE

NYX

MODE OF INHERITANCE
X-linked
DISEASE

Congenital stationary night blindness type 1A

COMMENTS

GENE

OCA2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Oculocutaneous albinism type 2

COMMENTS

GENE

OCRL

MODE OF INHERITANCE
X-linked
DISEASE

Dent disease type 2; Lowe syndrome

COMMENTS

GENE

OFD1

MODE OF INHERITANCE
X-linked
DISEASE

Joubert syndrome type 10

COMMENTS

GENE

OPA1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Behr syndrome

COMMENTS

GENE

OTC

MODE OF INHERITANCE
X-linked
DISEASE

Ornithine transcarbamylase deficiency

COMMENTS

GENE

PAH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Phenylketonuria

COMMENTS

GENE

PANK2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pantothenate Kinase-Associated Neurodegeneration type 1

COMMENTS

GENE

PCCB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Propionic acidemia

COMMENTS

GENE

PCDH15

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 1F; Deafness autosomal recessive type 23

COMMENTS

GENE

PCNT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Microcephalic osteodysplastic primordial dwarfism type 2

COMMENTS

GENE

PDHA1

MODE OF INHERITANCE
X-linked
DISEASE

Pyruvate dehydrogenase E1-alpha deficiency

COMMENTS

GENE

PDHB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pyruvate dehydrogenase E1-beta deficiency

COMMENTS

GENE

PDZD7

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 2

COMMENTS

GENE

PEX1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Zellweger syndrome 1A/B; Heimler syndrome 1

COMMENTS

GENE

PFKM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycogen storage disease type 7

COMMENTS

GENE

PIGA*

MODE OF INHERITANCE
X-linked
DISEASE

Multiple congenital anomalies-hypotonia-seizures syndrome type 2; Ferro-cerebro-cutaneous syndrome

COMMENTS

GENE

PKHD1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Polycystic kidney disease type 4

COMMENTS

GENE

PLA2G6

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Infantile neuroaxonal dystrophy 1; Dystonia-parkinsonism type Paisan-Ruiz; Neurodegeneration with brain iron accumulation type 2B

COMMENTS

GENE

PLOD1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ehlers-Danlos syndrome type 6

COMMENTS

GENE

PMM2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital disorder of glycosylation type 1A

COMMENTS

GENE

PNKP

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ataxia-oculomotor apraxia type 4; Early infantile epileptic encephalopathy

COMMENTS

GENE

PNPLA6

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Spastic paraplegia type 39; Oliver-McFarlane syndrome; Boucher-Neuhäuser syndrome

COMMENTS

GENE

POLG

MODE OF INHERITANCE
Autosomal recessive
DISEASE

POLG related disorders

COMMENTS

GENE

POLR1C

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hypomyelinating leukodystrophy type 11; Treacher-Collins syndrome type 3

COMMENTS

GENE

POLR3A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Wiedemann-Rautenstrauch syndrome; Hypomyelinating leukodystrophy type 7

COMMENTS

GENE

POMGNT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Muscular dystrophy-dystroglycanopathy type 3A, 3B, 3C; Retinitis pigmentosa type 76

COMMENTS

GENE

PPA2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Infantile sudden cardiac failure

COMMENTS

GENE

PPT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Neuronal ceroid lipofuscinosis type 1

COMMENTS

GENE

PQBP1

MODE OF INHERITANCE
X-linked
DISEASE

Renpenning syndrome

COMMENTS

GENE

PRF1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Familial hemophagocytic lymphohistiocytosis type 2

COMMENTS

GENE

PRPS1*

MODE OF INHERITANCE
X-linked
DISEASE

PRPS1 related disorders

COMMENTS

GENE

RAD50

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nijmegen breakage syndrome-like disorder

COMMENTS

GENE

RAG1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Omenn syndrome; Combined immunodeficiency with granulomatosis; Severe combined immunodeficiency due to complete RAG1/2 deficiency

COMMENTS

GENE

RAPSN

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Fetal akinesia deformation sequence type 2; Congenital myasthenic syndrome type 11

COMMENTS

GENE

RARS2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pontocerebellar hypoplasia type 6

COMMENTS

GENE

RBM10

MODE OF INHERITANCE
X-linked
DISEASE

TARP syndrome

COMMENTS

GENE

RDH12

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Leber congenital amaurosis type 13

COMMENTS

GENE

RECQL4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Baller-Gerold syndrome; Rothmund-Thomson syndrome type 2; RAPADILINO syndrome

COMMENTS

GENE

RMRP

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Anauxetic dysplasia type 1; Metaphyseal dysplasia without hypotrichosis; Cartilage-hair hypoplasia

COMMENTS

GENE

RNASEH2B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Aicardi-Goutières syndrome type 2

COMMENTS

GENE

RPGRIP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cone rod dystrophy type 13; Leber congenital amaurosis type 6

COMMENTS

GENE

RPGRIP1L

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Meckel syndrome type 5; Joubert syndrome type 7

COMMENTS

GENE

RS1

MODE OF INHERITANCE
X-linked
DISEASE

Retinoschisis

COMMENTS

GENE

RTEL1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Dyskeratosis congenita type 5

COMMENTS

GENE

SAMD9

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Familial normophosphatemic tumoral calcinosis

COMMENTS

GENE

SBDS*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Shwachman-Diamond syndrome type 1

COMMENTS

GENE

SCNN1B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pseudohypoaldosteronism type 1B2

COMMENTS

GENE

SCO2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Myopia type 6

COMMENTS

GENE

SGCA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Limb-girdle muscular dystrophy type 3

COMMENTS

GENE

SGSH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mucopolysaccharidosis type 3

COMMENTS

GENE

SH3TC2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Charcot-Marie-Tooth disease type 4C

COMMENTS

GENE

SLC16A2

MODE OF INHERITANCE
X-linked
DISEASE

Allan-Herndon-Dudley syndrome

COMMENTS

GENE

SLC17A5

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Salla disease; Free sialic acid storage disease, infantile form

COMMENTS

GENE

SLC1A4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

COMMENTS

GENE

SLC22A5

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Systemic primary carnitine deficiency

COMMENTS

GENE

SLC25A13

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Citrullinemia type 2

COMMENTS

GENE

SLC26A2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

SLC26A2 related disorders

COMMENTS

GENE

SLC26A3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital chloride diarrhea

COMMENTS

GENE

SLC26A4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pendred syndrome; Deafness autosomal recessive type 4

COMMENTS

GENE

SLC37A4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Glycogen storage disease Ib, Ic

COMMENTS

GENE

SLC45A2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Oculocutaneous albinism type 4

COMMENTS

GENE

SLC6A8*

MODE OF INHERITANCE
X-linked
DISEASE

Cerebral creatine deficiency syndrome type 1

COMMENTS

GENE

SLC7A7

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Lysinuric protein intolerance

COMMENTS

GENE

SMN1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Spinal Muscular Atrophy

COMMENTS

Only deletion of the exon 7 in SMN1 gene is included. No sequencing or deletion/duplication analysis is conducted in other regions of this gene. This test does not detect “silent” carriers of SMA, who have two copies of the SMN1 gene on one chromosome and none on the other.

GENE

SMPD1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Niemann-Pick disease type A/B

COMMENTS

GENE

SPG11

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Juvenile amyotrophic lateral sclerosis type 5; Charcot-Marie-Tooth disease type 2X; Spastic paraplegia type 11

COMMENTS

GENE

SURF1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Charcot-Marie-Tooth disease type 4K; Isolated cytochrome C oxidase deficiency

COMMENTS

GENE

SYN1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked epilepsy-learning disabilities-behavior disorders syndrome; X-linked intellectual developmental disorder type 50

COMMENTS

GENE

SYP

MODE OF INHERITANCE
X-linked
DISEASE

Intellectual developmental disorder type 96

COMMENTS

GENE

TAFAZZIN

MODE OF INHERITANCE
X-linked
DISEASE

Barth syndrome

COMMENTS

GENE

TGM1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital ichthyosis type 1

COMMENTS

GENE

TMEM216

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Meckel syndrome type 2; Joubert syndrome type 2; Retinitis pigmentaria type 98

COMMENTS

GENE

TMEM67

MODE OF INHERITANCE
Autosomal recessive
DISEASE

TMEM67 related disorders

COMMENTS

GENE

TPP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Ceroid lipofuscinosis neuronal tipo 2; Spinocerebellar ataxia type 7

COMMENTS

GENE

TRIM37

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mulibrey nanism syndrome

COMMENTS

GENE

TRIT1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Combined oxidative phosphorylation deficiency type 35

COMMENTS

GENE

TSEN54

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pontocerebellar hypoplasia type 2 and 4

COMMENTS

GENE

TSFM

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Combined oxidative phosphorylation deficiency type 3

COMMENTS

GENE

TYR*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Oculocutaneous albinism type 1A/1B

COMMENTS

NM_000372.5:c.1205G>A, p.(Arg402Gln) hypomorphic variant is associated with milder clinical manifestations is not reported.

GENE

TYRP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Oculocutaneous albinism type 3

COMMENTS

GENE

UBA5*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Non-specific early-onset epileptic encephalopathy

COMMENTS

GENE

UGT1A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Crigler-Najjar syndrome type 1 and 2

COMMENTS

Variants in the UGT1A1 gene associated with Gilbert syndrome are not reported.

GENE

UPF3B

MODE OF INHERITANCE
X-linked
DISEASE

Syndromic intellectual developmental disorder type 14

COMMENTS

GENE

USH2A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 2A; Retinitis pigmentosa type 39

COMMENTS

GENE

USP9X

MODE OF INHERITANCE
X-linked
DISEASE

Intellectual developmental disorder type 99

COMMENTS

GENE

VARS2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Combined oxidative phosphorylation defect type 20

COMMENTS

GENE

VPS13B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cohen syndrome

COMMENTS

GENE

WAS

MODE OF INHERITANCE
X-linked
DISEASE

Wiskott-Aldrich syndrome; X-linked severe congenital neutropenia; X-linked thrombocytopenia

COMMENTS

GENE

WFS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Wolfram syndrome type 1

COMMENTS

GENE

XIAP*

MODE OF INHERITANCE
X-linked
DISEASE

X-linked lymphoproliferative syndrome type 2

COMMENTS

GENE

ZIC3

MODE OF INHERITANCE
X-linked
DISEASE

X-linked heterotaxia; VACTERL with hydrocephalus

COMMENTS

GENE

ZNF711

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder type 97

COMMENTS

GENE

ZNHIT3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

PEHO syndrome

COMMENTS

GENE

CYP27A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Cerebrotendinous xanthomatosis

COMMENTS

GENE

CYP7B1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Spastic paraplegia type 5A; Congenital bile acid synthesis defect type 3

COMMENTS

GENE

HBB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Beta-thalassemia; Sickle cell disease

COMMENTS

*These genes have homology with other genomic loci and therefore the accuracy of the test may be decreased
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