Gastrointestinal epithelial barrier disorders
Gene: MVKEnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 23 panels
3 reviews
Olivia Niblock (Genomics England Curator)
Comment on list classification: Expert review and previous curation have suggested that variants in this gene are linked to gastrointestinal epithelial barrier phenotypes. Therefore, this gene will be promoted to green.Created: 26 Jul 2018, 11:29 a.m.
Neil shah (GOSH)
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Present on Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported.Created: 5 Sep 2016, 8:02 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Hyper-IgD syndrome, OMIM:260920
- Mevalonic aciduria, OMIM:610377
- OMIM
- 251170
- Clinvar variants
- Variants in MVK
- Penetrance
- None
- Panels with this gene
-
- Neonatal cholestasis
- Hereditary ataxia, adult onset
- Gastrointestinal epithelial barrier disorders
- Autoinflammatory disorders
- Retinal disorders
- Familial disseminated superficial actinic porokeratosis
- Rare genetic inflammatory skin disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Likely inborn error of metabolism
- Palmoplantar keratodermas
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Cholestasis
- COVID-19 research
- Undiagnosed metabolic disorders
- Hereditary ataxia
- Fetal hydrops
- Periodic fever syndromes
- Fetal anomalies
- Mosaic skin disorders - Deep sequencing
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MVK were changed from Early Onset Inflammatory Bowel Disease; Hyper-IgD syndrome 260920; Mevalonic aciduria 610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: mvk has been classified as Green List (High Evidence).
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Set mode of inheritance, Set penetrance
Olivia Niblock (Genomics England Curator)Model of inheritance for gene MVK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene MVK were set to Early Onset Inflammatory Bowel Disease, Hyper-IgD syndrome 260920, Mevalonic aciduria 610377
Added New Source
Olivia Niblock (Genomics England Curator)MVK was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)MVK was created by Olivia Niblock