Hereditary ataxiaGene: COG5
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
Congenital disorder of glycosylation, type IIi 613612
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