Hereditary ataxia

Gene: COG5

Amber List (moderate evidence)

COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rated as amber as recommended by internal clinical team.
Created: 6 Mar 2018, 9:47 a.m.
COG5 association with ataxia in 2 unrelated cases in Paesold-Burda et al 2009 and Kim et al 2017 (PMID:19690088;28960046). As recommended by internal clinical team added as new Amber gene in view of evidence discovered as part of Intellectual Disability panel review. At present all of the described cases also presented with ID.
Created: 6 Mar 2018, 9:46 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIi 613612

Publications

History Filter Activity

6 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

COG5 was added to Hereditary ataxia panel. Sources: Literature

6 Mar 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

COG5 was created by Eleanor Williams