This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Cholestasis
- COVID-19 research
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Fetal hydrops
- Periodic fever syndromes
- Fetal anomalies
- Mosaic skin disorders - Deep sequencing
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Palmoplantar keratodermas
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Gastrointestinal epithelial barrier disorders
- Autoinflammatory disorders
- Retinal disorders
- Familial disseminated superficial actinic porokeratosis
- Rare genetic inflammatory skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)MVK was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)MVK was created by Sarah Leigh