Neonatal cholestasis

Gene: COG7

Green List (high evidence)

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

1 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)
Created: 14 Aug 2018, 8:38 a.m.
Comment on mode of inheritance: MOI from Gen2Phen
Created: 14 Aug 2018, 8:30 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type IIe 608779
OMIM
606978
Clinvar variants
Variants in COG7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog7 has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COG7 were set to 15107842; 17356545; 19577670

14 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: COG7 were set to 15107842; 17356545

14 Aug 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: COG7 was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cog7 has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe 608779

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COG7 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

COG7 was created by Ellen McDonagh