Fetal anomalies
Gene: ARX

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ARX-RELATED, Confirmed for AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, Confirmed for PARTINGTON SYNDROME, Confirmed for EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and Confirmed for LISSENCEPHALY X-LINKED TYPE 2.
Created: 11 Dec 2018, 9:04 a.m.

In the original PAGE file, MOP listed as LOF for MENTAL RETARDATION X-LINKED ARX-RELATED, AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 and LISSENCEPHALY X-LINKED TYPE 2, and listed as Uncertain for PARTINGTON SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.134

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

PARTINGTON SYNDROME
MENTAL RETARDATION X-LINKED ARX-RELATED
LISSENCEPHALY X-LINKED TYPE 2
AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1

OMIM

300382

Clinvar variants

Variants in ARX

Penetrance

None

Panels with this gene