Hydrocephalus
Gene: ARXEnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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 AmberCreated: 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)
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, OMIM:300215
- Tags
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intestinal failure or congenital diarrhoea
- Inherited white matter disorders
- Differences in sex development
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Early onset dystonia
- Early onset or syndromic epilepsy
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia to Hydranencephaly with abnormal genitalia, OMIM:300215
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ARX.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)ARX was added to Hydrocephaluspanel. Source: Expert Review Amber
Created
Helen Brittain (Genomics England Curator)ARX was created by helen.brittain
Added New Source
Helen Brittain (Genomics England Curator)ARX was added to Hydrocephaluspanel. Sources: Literature