Neurodegenerative disorders - adult onset
Gene: 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 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
Adult onset forms of disease reported.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaricaciduria, type I, 231670
Publications
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