Neurodegenerative disorders - adult onsetGene: ARX
Intellectual disability and dystonia phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
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 Amber
Created: 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.
1 family (23657928) with X-L ID and dystonia in multiple male relatives.
Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Gene: arx has been classified as Red List (Low Evidence).
Source Expert Review Amber was added to ARX. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to ARX.
Publications for gene: ARX were set to
Source NHS GMS was added to ARX.
Source South West GLH was added to ARX.
Rebecca Foulger: Gene awaiting curator evaluati
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