Malformations of cortical development
Gene: ARX

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported in the various phenotypes (at least 10 in Lissencephaly, X-Linked, 2 300215 and nine in Epileptic encephalopathy, early infantile, 1 308350
Created: 1 Nov 2016, 12:33 p.m.

Created: 1 Nov 2016, 12:33 p.m.

Panel version: 0.9

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

WGS will not identify polyalanine tract expansions in second exon; causative of ID and seizure phenotypes, but not cortical malformations.
Created: 4 Oct 2016, 7:05 p.m.

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Oct 2016, 7:05 p.m.

Panel version: 0.3

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
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Lissencephaly, X-Linked, 2 300215
Epileptic encephalopathy, early infantile, 1 308350
Hydranencephaly with abnormal genitalia 300215
Mental retardation, X-linked 29 and others 300419
Partington syndrome 309510
Proud syndrome 300004

Tags

nucleotide-repeat-expansion

OMIM

300382

Clinvar variants

Variants in ARX

Penetrance

Complete

Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

22 Nov 2016, Gel status: 4