Genetic appointment

Clinical portal

BASIC

Gene finder

Download current versionVersion 1.1 February 2026
Download current version
GENE

ABCD1*

MODE OF INHERITANCE
X-linked
DISEASE

Adrenomyeloneuropathy

COMMENTS

GENE

AIFM1

MODE OF INHERITANCE
X-linked
DISEASE

AIFM1 related disorders

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

CASK

MODE OF INHERITANCE
X-linked
DISEASE

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

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

COL4A5

MODE OF INHERITANCE
X-linked
DISEASE

Alport syndrome type 1

COMMENTS

GENE

DCX

MODE OF INHERITANCE
X-linked
DISEASE

Lissencephaly type 1; Subcortical band heterotopia

COMMENTS

GENE

DMD

MODE OF INHERITANCE
X-linked
DISEASE

Duchenne muscular dystrophy; Becker muscular dystrophy

COMMENTS

GENE

EDA

MODE OF INHERITANCE
X-linked
DISEASE

Hypohidrotic ectodermal dysplasia type 1

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

GJB2

MODE OF INHERITANCE
Autosomal recessive
DISEASE

Deafness autosomal recessive type 1A

COMMENTS

Variants associated with a mild phenotype are not reported.

GENE

GLA

MODE OF INHERITANCE
X-linked
DISEASE

Fabry disease

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

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

MTM1

MODE OF INHERITANCE
X-linked
DISEASE

X-linked centronuclear myopathy

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

PRPS1*

MODE OF INHERITANCE
X-linked
DISEASE

PRPS1 related disorders

COMMENTS

GENE

RS1

MODE OF INHERITANCE
X-linked
DISEASE

Retinoschisis

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

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

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

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
900 828 420