Adult onset neurodegenerative disorder
Gene: COQ2
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
Association not clear.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
Multiple system atrophy, susceptibility to,146500
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COQ2 were changed from Multiple system atrophy, susceptibility to, 146500 to {Multiple system atrophy, susceptibility to}, OMIM:146500
Phenotypes for gene: COQ2 were changed from 146500; Multiple system atrophy, susceptibility to to Multiple system atrophy, susceptibility to, 146500
Mode of inheritance for gene COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 146500; Multiple system atrophy, susceptibility to for gene: COQ2 Publications for gene COQ2 were changed from to 23758206
Source NHS GMS was added to COQ2.
Source Yorkshire and North East GLH was added to COQ2.
gene: COQ2 was added gene: COQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: COQ2 was set to