Genes in panel

Hereditary ataxia - adult onset

Gene: COG5

Green List (high evidence)

COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 12 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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 review
Created: 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.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Enough evidence in lit - original patient presented with truncal ataxia but phenotype seems variable
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type 2i, 613612

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Congenital disorder of glycosylation type 2i, 613612
  • Congenital disorder of glycosylation, type Iii 613612
OMIM
606821
Clinvar variants
Variants in COG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cog5 has been classified as Green List (High Evidence).

19 Sep 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation type 2i, 613612 for gene: COG5

14 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COG5.

14 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to COG5.

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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