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ESSENTIAL

Gene finder

Download current versionVersion 1.1 February 2026
Download current version
GENE

ABCA3

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Interstitial lung disease due to ABCA3 deficiency

COMMENTS

GENE

ABCC6*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pseudoxanthoma elasticum; Generalized arterial calcification of infancy type 2

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

AGA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Aspartylglucosaminuria

COMMENTS

GENE

AIFM1

MODE OF INHERITANCE
X-linked
DISEASE

AIFM1 related disorders

COMMENTS

GENE

ALDOB

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Hereditary fructose intolerance

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

ASL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Argininosuccinic aciduria

COMMENTS

GENE

ASPA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Canavan disease

COMMENTS

GENE

ATP7B

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Wilson disease

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

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

CEP290*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

CEP290 related disorders

COMMENTS

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

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

CLCN1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Myotonia congenita

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

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

COL7A1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Dystrophic epidermolysis bullosa COL7A1-Related

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

CTC1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Coats plus syndrome

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).

GENE

DDX11

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Warsaw breakage syndrome

COMMENTS

GENE

DHCR7

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Smith-Lemli-Opitz syndrome

COMMENTS

GENE

DLD

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pyruvate dehydrogenase E3 deficiency

COMMENTS

GENE

DMD

MODE OF INHERITANCE
X-linked
DISEASE

Duchenne muscular dystrophy; Becker muscular dystrophy

COMMENTS

GENE

DNAH5

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Primary ciliary dyskinesia type 3

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

EDA

MODE OF INHERITANCE
X-linked
DISEASE

Hypohidrotic ectodermal dysplasia type 1

COMMENTS

GENE

ELP1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Familial dysautonomia

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

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

GAA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pompe disease

COMMENTS

GENE

GALC

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Krabbe disease

COMMENTS

GENE

GALT

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Galactosemia

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

GLE1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

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

COMMENTS

GENE

GPR143

MODE OF INHERITANCE
X-linked
DISEASE

X-linked recessive ocular albinism; Congenital Nystagmus type 6

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)

GENE

HEXA

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Tay-Sachs disease

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

IQSEC2

MODE OF INHERITANCE
X-linked
DISEASE

X-linked intellectual developmental disorder 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

MPL

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital amegakaryocytic thrombocytopenia type 1

COMMENTS

GENE

MTM1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked centronuclear myopathy

COMMENTS

GENE

MYO15A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 3

COMMENTS

GENE

NPHS1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Nephrotic syndrome type 1

COMMENTS

GENE

OCA2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Oculocutaneous albinism type 2

COMMENTS

GENE

OFD1

MODE OF INHERITANCE
X-linked
DISEASE

Joubert syndrome type 10

COMMENTS

GENE

OTC

MODE OF INHERITANCE
X-linked
DISEASE

Ornithine transcarbamylase deficiency

COMMENTS

GENE

PAH

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Phenylketonuria

COMMENTS

GENE

PKHD1

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Polycystic kidney disease type 4

COMMENTS

GENE

PMM2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Congenital disorder of glycosylation type 1A

COMMENTS

GENE

POLG

MODE OF INHERITANCE
Autosomal recessive
DISEASE

POLG related disorders

COMMENTS

GENE

POLR3A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Wiedemann-Rautenstrauch syndrome; Hypomyelinating leukodystrophy type 7

COMMENTS

GENE

PRPS1*

MODE OF INHERITANCE
X-linked
DISEASE

PRPS1 related disorders

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

RS1

MODE OF INHERITANCE
X-linked
DISEASE

Retinoschisis

COMMENTS

GENE

SBDS*

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Shwachman-Diamond syndrome type 1

COMMENTS

GENE

SCO2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Myopia type 6

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

SLC26A4

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Pendred syndrome; Deafness autosomal recessive type 4

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

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

SYN1

MODE OF INHERITANCE
X-linked
DISEASE

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

COMMENTS

GENE

TAFAZZIN

MODE OF INHERITANCE
X-linked
DISEASE

Barth syndrome

COMMENTS

GENE

TMEM67

MODE OF INHERITANCE
Autosomal recessive
DISEASE

TMEM67 related disorders

COMMENTS

GENE

TRIM37

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Mulibrey nanism syndrome

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

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

USH2A

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Usher syndrome type 2A; Retinitis pigmentosa type 39

COMMENTS

GENE

WAS

MODE OF INHERITANCE
X-linked
DISEASE

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

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

DCX

MODE OF INHERITANCE
X-linked
DISEASE

Lissencephaly type 1; Subcortical band heterotopia

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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