Autoinflammatory Disorders
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 16 panels
1 review
Crystle Lee (Victorian Clinical Genetics Services)
Well-reported in hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria (MA) patients, which represents a spectrum of clinical phenotypes associated with mevalonate kinase deficiency. Severity and clinical presentation depends on residual enzyme activity, with HIDS being milder than MA.Created: 22 Jan 2021, 12:40 a.m. | Last Modified: 22 Jan 2021, 12:40 a.m.
Panel Version: 0.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hyper-IgD syndrome (MIM#260920)
- Mevalonic aciduria (MIM#610377)
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mvk has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MVK were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MVK was added gene: MVK was added to Systemic autoinflammatory disease, Periodic fever_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: MVK was set to Unknown