Cholestasis
Gene: COG7

COG7 (component of oligomeric golgi complex 7)
EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hepatomegaly, abnormal LFTs, cholestasis reported in several affected individuals with this CDG, often as part of the initial presentation.
Created: 8 Aug 2020, 5:59 a.m. | Last Modified: 8 Aug 2020, 5:59 a.m.

Panel Version: 0.53

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIe , MIM#608779

Publications

Created: 8 Aug 2020, 5:59 a.m.
Last Modified: 8 Aug 2020, 5:59 a.m.
Panel version: 0.53

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIe , MIM#608779

OMIM

606978

Clinvar variants

Variants in COG7

Penetrance

None

Publications

Panels with this gene