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  2. Likely inborn error of metabolism
  3. COG3
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Likely inborn error of metabolism

Gene: COG3

Amber List (moderate evidence)
COG3 (component of oligomeric golgi complex 3)
EnsemblGeneIds (GRCh38): ENSG00000136152
EnsemblGeneIds (GRCh37): ENSG00000136152
OMIM: 606975, Gene2Phenotype
COG3 is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: As reviewed by Zornitza Stark, there are two unrelated families reported with biallelic COG3 variants and hence this gene should be rated amber with current evidence.
Created: 5 Jan 2024, 11:16 p.m. | Last Modified: 5 Jan 2024, 11:24 p.m.
Panel Version: 4.16
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620546), but not yet in Gene2Phenotype.
Created: 5 Jan 2024, 11:13 p.m. | Last Modified: 5 Jan 2024, 11:13 p.m.
Panel Version: 4.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIbb, OMIM:620546

Publications

Created: 5 Jan 2024, 11:11 p.m.
Last Modified: 5 Jan 2024, 11:24 p.m.
Copied from panel: Congenital disorders of glycosylation v4.16

Zornitza Stark (Australian Genomics)

I don't know

Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings.
Sources: Literature
Created: 21 Oct 2023, 6:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIbb, MIM# 620546

Publications

Created: 21 Oct 2023, 6:43 a.m.

Copied from panel: Congenital disorders of glycosylation v4.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIbb, OMIM:620546
OMIM
606975
Clinvar variants
Variants in COG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: COG3 was added gene: COG3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG3 were set to 37711075 Phenotypes for gene: COG3 were set to Congenital disorder of glycosylation, type IIbb, OMIM:620546