Congenital Disorders of Glycosylation

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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, 1:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

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

History Filter Activity

21 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog3 has been classified as Amber List (Moderate Evidence).

21 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog3 has been classified as Amber List (Moderate Evidence).

21 Oct 2023, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG3 was added gene: COG3 was added to Congenital Disorders of Glycosylation. Sources: Literature 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, MIM# 620546 Review for gene: COG3 was set to AMBER