Neonatal cholestasis

Gene: MVK

Green List (high evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in at least 8 unrelated cases, hepatomegaly at a young age appears to be consistently associated with this phenotype.
Created: 15 Aug 2018, 2:19 p.m.
Comment on phenotypes: Variant also associated with Hyper-IgD syndrome 260920 and Porokeratosis 3, multiple types 175900
Created: 15 Aug 2018, 2:01 p.m.

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.

15 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

15 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MVK were set to Mevalonic aciduria 610377

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MVK was created by Ellen McDonagh