Hereditary ataxia
Gene: MVK
MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Gastrointestinal epithelial barrier disorders
- Familial disseminated superficial actinic porokeratosis
- Rare genetic inflammatory skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Autoinflammatory disorders
- Cholestasis
- Hereditary ataxia, adult onset
- COVID-19 research
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Fetal hydrops
- Periodic fever syndromes
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - Deep sequencing
- Ataxia and cerebellar anomalies - childhood onset
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Palmoplantar keratodermas
- Retinal disorders
History Filter Activity
10 Jan 2022, Gel status: 2
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377
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