Cholestasis
Gene: COG7The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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
Hepatomegaly, abnormal LFTs, cholestasis reported in several affected individuals with this CDG, often as part of the initial presentation.
Sources: Expert listCreated: 8 Aug 2020, 7:59 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIe , MIM#608779
Publications
Tag for-review was removed from gene: COG7.
Source Expert Review Green was added to COG7. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cog7 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: COG7.
Phenotypes for gene: COG7 were changed from Congenital disorder of glycosylation, type IIe , MIM#608779 to Congenital disorder of glycosylation, type IIe , 608779
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