Neurodegenerative disorders - adult onsetGene: GCDH
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
Source Expert Review Amber was added to GCDH. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670
Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene GCDH were changed from to 23884036; 26316201
Source NHS GMS was added to GCDH.
Source Yorkshire and North East GLH was added to GCDH.
Rebecca Foulger: Gene awaiting curator evaluati
gene: GCDH was added gene: GCDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: GCDH was set to Unknown Phenotypes for gene: GCDH were set to Dystonia