Adult onset neurodegenerative disorder
Gene: ARXEnsemblGeneIds (GRCh38): ENSG00000004848
EnsemblGeneIds (GRCh37): ENSG00000004848
OMIM: 300382, Gene2Phenotype
ARX is in 15 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Intellectual disability and dystonia phenotypeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
Unknown
Phenotypes
Dystonia
Louise Daugherty (Genomics England Curator)
Comment on list classification: Prior to GLH sign off for this panel, ARX was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to downgrade this gene from Amber to Red.Created: 28 Nov 2019, 1:26 p.m. | Last Modified: 28 Nov 2019, 1:26 p.m.
Panel Version: 1.110
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
1 family (23657928) with X-L ID and dystonia in multiple male relatives.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Dystonia
- OMIM
- 300382
- Clinvar variants
- Variants in ARX
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Inherited white matter disorders
- Differences in sex development
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hydrocephalus
- Early onset dystonia
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: arx has been classified as Red List (Low Evidence).
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)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to ARX.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: ARX were set to
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ARX.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to ARX.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: ARX was added gene: ARX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: ARX was set to Unknown Phenotypes for gene: ARX were set to Dystonia