Hereditary ataxia
Gene: COG5Comment on mode of inheritance: All cases reported to date have been associated with recessive inheritance with the exception of one family with "one potential heterozygous mutation" reported in 2017 (PMID: 28960046). As no further monoallelic cases have been reported since, updating the MOI from 'both mono- and biallelic' to 'biallelic' only until further evidence emerges supporting pathogenicity of heterozygous variants in this gene.Created: 1 Dec 2022, 5:31 p.m. | Last Modified: 1 Dec 2022, 5:31 p.m.
Panel Version: 1.313
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
Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
COG5 was added to Hereditary ataxia panel. Sources: Literature
COG5 was created by Eleanor Williams