Congenital disorders of glycosylation
Gene: COG3
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
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: LiteratureCreated: 21 Oct 2023, 6:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIbb, MIM# 620546
Publications
Gene: cog3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: COG3 were changed from Congenital disorder of glycosylation, type IIbb, OMIM:620546 to Congenital disorder of glycosylation, type IIbb, OMIM:620546
Phenotypes for gene: COG3 were changed from Congenital disorder of glycosylation, type IIbb, MIM# 620546 to Congenital disorder of glycosylation, type IIbb, OMIM:620546
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