Neonatal cholestasis
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)
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 175900Created: 15 Aug 2018, 2:01 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Neonatal cholestasis
- Retinal disorders
- Gastrointestinal epithelial barrier disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Fetal anomalies
- Autoinflammatory disorders
- Rare genetic inflammatory skin disorders
- Cholestasis
- Undiagnosed metabolic disorders
- Palmoplantar keratodermas
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Periodic fever syndromes
- Fetal hydrops
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
History Filter Activity
10 Jan 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377
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