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  2. Differences of Sex Development
  3. COG6
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Differences of Sex Development

Gene: COG6

Amber List (moderate evidence)
COG6 (component of oligomeric golgi complex 6)
EnsemblGeneIds (GRCh38): ENSG00000133103
EnsemblGeneIds (GRCh37): ENSG00000133103
OMIM: 606977, Gene2Phenotype
COG6 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

<20 families reported with this type of CDG; two families with multi-system features including significant DSD.
Sources: Literature
Created: 5 Nov 2021, 1:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIl, MIM# 614576

Publications

Created: 5 Nov 2021, 1:12 a.m.

Panel version: 0.216

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIl, MIM# 614576
OMIM
606977
Clinvar variants
Variants in COG6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog6 has been classified as Amber List (Moderate Evidence).

5 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cog6 has been classified as Amber List (Moderate Evidence).

5 Nov 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COG6 was added gene: COG6 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG6 were set to 33394555; 32683677 Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, MIM# 614576 Review for gene: COG6 was set to AMBER