Newborns main panel
Gene: MVK

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Demoted from Green to Amber due to advice from clinical experts.
Created: 26 Jun 2024, 9:14 a.m. | Last Modified: 26 Jun 2024, 9:14 a.m.

Panel Version: 0.468

Created: 26 Jun 2024, 9:14 a.m.
Last Modified: 26 Jun 2024, 9:14 a.m.
Panel version: 0.468

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 33917151 - review 346 patients
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Hyper-IgD syndrome / mevalonate kinase deficiciency

Tags

internal_inclusion_list_only

OMIM

251170

Clinvar variants

Variants in MVK

Penetrance

None

Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mvk has been classified as Amber List (Moderate Evidence).

23 Nov 2023, Gel status: 3