Hereditary ataxia
Gene: COG5
COG5 (component of oligomeric golgi complex 5)
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000164597
EnsemblGeneIds (GRCh37): ENSG00000164597
OMIM: 606821, Gene2Phenotype
COG5 is in 11 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment 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
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type IIi 613612
- OMIM
- 606821
- Clinvar variants
- Variants in COG5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
History Filter Activity
1 Dec 2022, Gel status: 2
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: COG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
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