This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Gene is associated with wide spectrum of disease. Partington syndrome has characteristic hand dystonia, but dystonia can be a feature across the ARX spectrum. Appears appropriate for panel but clinical input may be helpful before upgrading. A recurrent variant c.441_464dup may not be detected by clinical exome due to polyalanine tract in exon 2Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
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
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Partington Syndrome, 300382
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- DDG2P
- Cerebral vascular malformations
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- Malformations of cortical development
- Intellectual disability
- Inherited white matter disorders
- Hydrocephalus
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Differences in sex development
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 2
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene ARX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Partington Syndrome, 300382 for gene: ARX
2 Apr 2019, Gel status: 2
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to ARX. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: ARX was added gene: ARX was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: ARX was set to