Cholestasis

Gene: COG7

Amber List (moderate evidence)

COG7 (component of oligomeric golgi complex 7)
EnsemblGeneIds (GRCh38): ENSG00000168434
EnsemblGeneIds (GRCh37): ENSG00000168434
OMIM: 606978, Gene2Phenotype
COG7 is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 variants reported in 3 unrelated families, together with supportive in vitro studies (PMID 19577670)."

This gene has been given an Amber rating and will be made Green at the next review.
Created: 29 Oct 2020, 3:50 p.m. | Last Modified: 29 Oct 2020, 3:50 p.m.
Panel Version: 1.60

Zornitza Stark (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.
Sources: Expert list
Created: 8 Aug 2020, 7:59 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

29 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: cog7 has been classified as Amber List (Moderate Evidence).

29 Oct 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: COG7.

29 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe , MIM#608779 to Congenital disorder of glycosylation, type IIe , 608779

8 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: COG7 was added gene: COG7 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG7 were set to 19577670; 17395513; 15107842 Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe , MIM#608779 Review for gene: COG7 was set to GREEN