Genetic Epilepsy
Gene: ATRX

ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 20 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures in about 1/3 of both males and females.
Created: 11 Oct 2022, 9:37 a.m. | Last Modified: 11 Oct 2022, 9:37 a.m.

Panel Version: 0.1739

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
ATR-X-related syndrome MONDO:0016980

Created: 11 Oct 2022, 9:37 a.m.
Last Modified: 11 Oct 2022, 9:37 a.m.
Panel version: 0.1923

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: This gene undergoes X-chr inactivation, where unaffected carrier females had mutant alleles inactivated and affected carrier female had the active chromosome carrying the mutation
Created: 14 Feb 2020, 3:19 a.m. | Last Modified: 14 Feb 2020, 3:19 a.m.

Panel Version: 0.1357

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked

Created: 14 Feb 2020, 3:19 a.m.
Last Modified: 14 Feb 2020, 3:19 a.m.
Panel version: Imported from Mendeliome panel version 0.1357

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

ATR-X-related syndrome MONDO:0016980

OMIM

300032

Clinvar variants

Variants in ATRX

Penetrance

None

Panels with this gene