Malformations of cortical development

Gene: ARX

Green List (high evidence)

ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 14 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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to Version 1 on 22nd November 2016

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

1 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

11 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

ARX was added to Malformations of cortical developmentpanel. Source: Radboud University Medical Center, Nijmegen

11 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ARX was added to Malformations of cortical developmentpanel. Sources: UKGTN

11 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ARX was created by sleigh