Hydrocephalus

Gene: ARX

Amber List (moderate evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34

Helen Brittain (Genomics England Curator)

I don't know

Two families reported with this phenotype. Watchlist required.
Created: 9 May 2017, 1:22 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)

Phenotypes
Hydranencephaly with abnormal genitalia

Publications

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
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Hydranencephaly with abnormal genitalia
Tags
watchlist
OMIM
300382
Clinvar variants
Variants in ARX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARX.

31 May 2017, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31.05.2017 - panel revised after internal curation and clinical review.

9 May 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ARX was added to Hydrocephaluspanel. Source: Expert Review Amber

9 May 2017, Gel status: 0

Created

Helen Brittain (Genomics England Curator)

ARX was created by helen.brittain

9 May 2017, Gel status: 0

Added New Source

Helen Brittain (Genomics England Curator)

ARX was added to Hydrocephaluspanel. Sources: Literature