Malformations of cortical development
Gene: ARXComment 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 308350Created: 1 Nov 2016, 12:33 p.m.
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
This gene has been classified as Green List (High Evidence).
Promoted to Version 1 on 22nd November 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for ARX were set to 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
This gene has been classified as Green List (High Evidence).
ARX was added to Malformations of cortical developmentpanel. Source: Radboud University Medical Center, Nijmegen
ARX was added to Malformations of cortical developmentpanel. Sources: UKGTN
ARX was created by sleigh