Adult onset neurodegenerative disorder
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
5 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy - redCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria 610377
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Single case associated with ataxiaCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria 610377
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
1 family of 2 brothers with ataxia & RP (28095071)Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria, 610377
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- Expert Review Red
- London North GLH
- NHS GMS
- South West GLH
- Phenotypes
-
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intellectual disability
- COVID-19 research
- Periodic fever syndromes
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to MVK.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to MVK.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: mvk has been classified as Red List (Low Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to MVK.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to MVK.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to MVK.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: MVK was added gene: MVK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377