This Panel is marked as Internal
Intellectual disability update Jan 2018
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
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases, appropriate phenotypeCreated: 5 Mar 2018, 11:33 a.m.
Eleanor Williams (Genomics England Curator)
Comment on list classification: Now 3 independent cases of congenital disorders of glycosylation with severe ID, and 4 familes (6 individuals) with mild to moderate ID. Paesold-Burda et al 2009 (PMID:19690088), Fung et al 2012 (PMID:23430875), Rymen et al 2012 (PMID:23228021), Kim et al 2017 (PMID: 28960046). Functional analysis by Rymen et al also suggests that the mutations are likely to cause the phenotype.Created: 1 Mar 2018, 9:36 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type IIi 613612
- OMIM
- 606821
- Clinvar variants
- Variants in COG5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
5 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2018, Gel status: 3
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for COG5 were set to Congenital disorder of glycosylation, type IIi 613612
1 Mar 2018, Gel status: 3
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for COG5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
1 Mar 2018, Gel status: 3
Set publications
Eleanor Williams (Genomics England Curator)Publications for COG5 were set to 19690088; 23430875; 23228021; 28960046
1 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Eleanor Williams (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COG5 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)COG5 was created by Ellen McDonagh