This Panel is marked as Retired
Epilepsy Plus
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
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Expert Review Green
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- Complete
- Publications
-
- Tsurusaki et al (2002) Nature 30: 441-445
- Kato et al (2004) Hum Mut 23: 147-159
- Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
- Partington et al (1998) Am J Med Genet 30: 251-262
- Panels with this gene
-
- Intestinal failure or congenital diarrhoea
- Differences in sex development
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Cerebral vascular malformations
- Malformations of cortical development
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ARX was added to Epilepsy Pluspanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ARX was created by ellenmcdonagh