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  3. COG3
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Genetic Epilepsy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 21 Oct 2023, 1:45 a.m.
Last Modified: 21 Oct 2023, 1:45 a.m.
Panel version: 0.1943

Daniel Flanagan (Victorian Clinical Genetics Services)

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: Expert list
Created: 5 Oct 2023, 1:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), COG3-related

Publications

Created: 5 Oct 2023, 1:27 a.m.

Panel version: 0.1927

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COG3 were changed from Neurodevelopmental disorder (MONDO#0700092), COG3-related to Congenital disorder of glycosylation, type IIbb, MIM# 620546

5 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

5 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

5 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

5 Oct 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: cog3 has been removed from the panel.

5 Oct 2023, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: COG3 was added gene: COG3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG3 were set to PMID: 37711075 Phenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related Review for gene: COG3 was set to AMBER