This Panel is marked as Internal
Dystonia - childhood onset
Gene: ARX
ARX (aristaless related homeobox)
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Intestinal failure or congenital diarrhoea
- Adult onset neurodegenerative disorder
- Intellectual disability
- Inherited white matter disorders
- Cerebral vascular malformations
- Malformations of cortical development
- Hydrocephalus
- Fetal anomalies
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ARX was added gene: ARX was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to Unknown Phenotypes for gene: ARX were set to Dystonia