Hereditary ataxia

Gene: MVK

Amber List (moderate evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 21 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

Associated with phenotype in OMIM, not in G2P. At least 9 variants reported in numerous cases of Mevalonic aciduria (with or without Hyper-IgD syndrome). Although in the majority of cases this condition results in infant death, PMID 12563048 reports teenage siblings in whom ataxia is the predominant clinical manifestation, with febrile attacks occuring less frequently.
Created: 15 Mar 2018, 5:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mevalonic aciduria 610377

Publications

History Filter Activity

15 Mar 2018, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

15 Mar 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MVK was added to Hereditary ataxia panel. Sources: Literature

15 Mar 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MVK was created by Sarah Leigh