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Miscellaneous Metabolic Disorders

Gene: MVK

Green List (high evidence)
MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association(see OMIM entry). Mevalonic aciduria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sterol metabolism.
Sources: NHS GMS
Created: 7 Feb 2021, 2:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2021, 2:21 a.m.

Panel version: 0.263

History Filter Activity

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mvk has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: mvk has been classified as Green List (High Evidence).

7 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MVK was added gene: MVK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27604308; 1377680 Phenotypes for gene: MVK were set to Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis Review for gene: MVK was set to GREEN gene: MVK was marked as current diagnostic