Cholestasis
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
2 reviews
Miranda Durkie (Genetics)
PMID: 9714005 2 patients with cholestatic liver disease
PMID: 21425920 2 siblings with perinatal presentation including cholestatic liver disease
PMID: 26986117 1 patient with Cholestasis
PMID: 21548022 significant liver disease in patient with MVK
PMID: 25469482: 11 month old with cholestatic liver diseaseCreated: 20 Jan 2022, 12:16 p.m. | Last Modified: 20 Jan 2022, 12:16 p.m.
Panel Version: 1.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonate kinase deficiency
Publications
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- 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
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: MVK. Tag Q1_22_NHS_review was removed from gene: MVK.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to MVK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: MVK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Mevalonic aciduria, OMIM:610377, MONDO:0012481 to Mevalonic aciduria, OMIM:610377
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: MVK.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MVK was added gene: MVK was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Mevalonic aciduria, OMIM:610377, MONDO:0012481