Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: MVK

Amber List (moderate evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Mevalonic aciduria OMIM:610377. At least nine variants reported at least seven unrelated cases.
Created: 27 Apr 2021, 3:54 p.m. | Last Modified: 27 Apr 2021, 3:54 p.m.
Panel Version: 2.141
Comment on phenotypes: Variants are associated with Hyper-IgD syndrome OMIM:260920 (biallelic) & Porokeratosis 3, multiple types OMIM:175900 (monoallelic).
Created: 27 Apr 2021, 3:40 p.m. | Last Modified: 27 Apr 2021, 3:40 p.m.
Panel Version: 2.140

Zornitza Stark (Australian Genomics)

Green List (high evidence)

At least 4 families reported with early onset ataxia as a feature of the condition.
Created: 12 Sep 2020, 6:34 a.m. | Last Modified: 12 Sep 2020, 6:34 a.m.
Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mevalonic aciduria MIM#610377

Publications

History Filter Activity

27 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MVK.

27 Apr 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MVK were set to 24896178; 26503795

27 Apr 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria OMIM:610377; mevalonic aciduria MONDO:0012481

9 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MVK was added gene: MVK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377