Gastrointestinal epithelial barrier disorders

Gene: MVK

Green List (high evidence)

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

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.

History Filter Activity

10 Jan 2022, Gel status: 3

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

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

Gene: mvk has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

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

17 Apr 2018, Gel status: 1

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

17 Apr 2018, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

MVK was added to Gastrointestinal epithelial barrier disorders panel. Sources: Emory Genetics Laboratory

17 Apr 2018, Gel status: 1

Created

Olivia Niblock (Genomics England Curator)

MVK was created by Olivia Niblock