Ataxia - paediatric
Gene: MVK
MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 14 May 2022, 7:54 a.m. | Last Modified: 14 May 2022, 7:54 a.m.
Panel Version: 0.14282
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria MIM#610377
Bryony Thompson (Royal Melbourne Hospital)
At least 4 families reported with early onset ataxia as a feature of the condition.Created: 17 Apr 2020, 2:48 a.m. | Last Modified: 17 Apr 2020, 2:48 a.m.
Panel Version: 0.171
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mevalonic aciduria MIM#610377
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mevalonic aciduria 610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
17 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mvk has been classified as Green List (High Evidence).
17 Apr 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MVK were set to
19 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MVK was added gene: MVK was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Mevalonic aciduria 610377