Periodic fever syndromes

Gene: MVK

Green List (high evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 22 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green. Not a DD-confirmed gene but 1 green review and included in the Eligibility statement prior genetic testing list. Plus >3 OMIM-reported cases of MVK mutations causing fever phenotypes including HIDS (OMIM:260920).
Created: 16 Jan 2017, 11:21 a.m.
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Patients with the HIDS phenotype (OMIM:260920) typically present only with recurrent episodes of fever and associated inflammatory symptoms, whereas patients with mevalonic aciduria (OMIM:610377) show, in addition to these episodes, developmental delay, dysmorphic features, ataxia, cerebellar atrophy, and psychomotor retardation and may die in early childhood.
Created: 16 Jan 2017, 11:12 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 16 Jan 2017, 11:11 a.m.

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22nd February 2017: Promoted to V1. Panel was reviewed by Tracy Briggs and Alice Gardham. Panel was revised according to expert review and additional curation.

30 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MVK was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene MVK were set to Hereditary Periodic Fever Syndromes; Mevalonate kinase deficiency; Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377

12 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility Statements for GeL,Emory Genetics Laboratory