Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: MVK

Green List (high evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 20 panels

2 reviews

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

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

5 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

MVK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

5 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene MVK were set to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MVK was created by ellenmcdonagh

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list