Periodic fever syndromes
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Phenotypes
-
- Hyper-IgD syndrome, OMIM:260920
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- Complete
- Panels with this gene
-
- Mosaic skin disorders - deep sequencing
- Hereditary ataxia
- Neonatal cholestasis
- Fetal anomalies
- Gastrointestinal epithelial barrier disorders
- Undiagnosed metabolic disorders
- Familial disseminated superficial actinic porokeratosis
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Autoinflammatory disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Palmoplantar keratodermas
- Rare genetic inflammatory skin disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Retinal disorders
- COVID-19 research
- Periodic fever syndromes
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Hereditary Periodic Fever Syndromes; Mevalonate kinase deficiency; Hyper-IgD syndrome, 260920; Mevalonic aciduria, 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for MVK was changed to BIALLELIC, autosomal or pseudoautosomal
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
Added New Source
Ellen McDonagh (Genomics England Curator)MVK was added to Periodic fever syndromes and amyloidosis panel. Sources: Eligibility statement prior genetic testing
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
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