Hereditary ataxia with onset in adulthood
Gene: COG5
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 19 Sep 2019, 1:20 p.m. | Last Modified: 19 Sep 2019, 1:20 p.m.
Panel Version: 1.206
Comment on mode of inheritance: changed MOI from external expert reviewCreated: 19 Sep 2019, 1:20 p.m. | Last Modified: 19 Sep 2019, 1:20 p.m.
Panel Version: 1.205
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Enough evidence in lit - original patient presented with truncal ataxia but phenotype seems variableCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type 2i, 613612
Gene: cog5 has been classified as Green List (High Evidence).
Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Congenital disorder of glycosylation type 2i, 613612 for gene: COG5
Source NHS GMS was added to COG5.
Source Wessex and West Midlands GLH was added to COG5.
Louise Daugherty: Comment on phenotypes: Implica
gene: COG5 was added gene: COG5 was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COG5 were set to 28960046; 19690088 Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type Iii 613612