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Prepair 1000+

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

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Mevalonic aciduria (MEVA) is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D (HIDS) and to periodic fever syndrome, which is also caused by mutation in the MVK gene.

MEVA onset of crisis in early childhood, HIDS onset in first year of life (OMIM).
Created: 30 Jan 2025, 9:06 p.m. | Last Modified: 30 Jan 2025, 9:06 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920

Publications

Created: 30 Jan 2025, 9:06 p.m.
Last Modified: 30 Jan 2025, 9:06 p.m.
Panel version: 1.1367

History Filter Activity

30 Jan 2025, 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).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MVK were changed from Mevalonic aciduria, 610377 (3) to Mevalonic aciduria, MIM#610377; Hyper-IgD syndrome, MIM#260920

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MVK were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mevalonic aciduria, 610377 (3) for gene: MVK

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MVK was added gene: MVK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)