Cholestasis
Gene: MVK
PMID: 9714005 2 patients with cholestatic liver disease
PMID: 21425920 2 siblings with perinatal presentation including cholestatic liver disease
PMID: 26986117 1 patient with Cholestasis
PMID: 21548022 significant liver disease in patient with MVK
PMID: 25469482: 11 month old with cholestatic liver diseaseCreated: 20 Jan 2022, 12:16 p.m. | Last Modified: 20 Jan 2022, 12:16 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonate kinase deficiency
Publications
The 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
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Tag for-review was removed from gene: MVK. Tag Q1_22_NHS_review was removed from gene: MVK.
Source Expert Review Green was added to MVK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: MVK.
Phenotypes for gene: MVK were changed from Mevalonic aciduria, OMIM:610377, MONDO:0012481 to Mevalonic aciduria, OMIM:610377
Tag for-review tag was added to gene: MVK.
gene: MVK was added gene: MVK was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377, MONDO:0012481