This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Autoinflammatory disorders
- Hereditary ataxia
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Periodic fever syndromes
- Fetal hydrops
- Cholestasis
- Likely inborn error of metabolism
- Retinal disorders
- Adult onset neurodegenerative disorder
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Intellectual disability
- Neonatal cholestasis
- Gastrointestinal epithelial barrier disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: MVK was added gene: MVK was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MVK was set to Unknown