This Panel is marked as Internal
Intellectual disability update Jan 2018
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).
Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)Created: 8 Mar 2018, 11:25 a.m.
Comment on phenotypes: Variants also associated with Hyper-IgD syndrome 260920 AR; Porokeratosis 3, multiple types 175900 ADCreated: 8 Mar 2018, 10:56 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Mevalonic aciduria 610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary ataxia
- Fetal anomalies
- Neonatal cholestasis
- Gastrointestinal epithelial barrier disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Rare genetic inflammatory skin disorders
- Cholestasis
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- Autoinflammatory disorders
- COVID-19 research
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Periodic fever syndromes
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
History Filter Activity
8 Mar 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for MVK was changed from to BIALLELIC, autosomal or pseudoautosomal
8 Mar 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for MVK were set to Mevalonic aciduria 610377
8 Mar 2018, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for MVK were set to 26503795; 24896178
18 Dec 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)MVK was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red
18 Dec 2017, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)MVK was created by Ellen McDonagh