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Intellectual disability

Gene: MVK

Green List (high evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 17 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P. At least 9 variants reported in numerous cases of Mevalonic aciduria (with or without Hyper-IgD syndrome). This condition has a variable phenotype which includes psychomotor retardation / mental retardation in cases who survive infancy.

Reported as a gene linked to isolated ID and ID associated disorders (Vissers 2016 PMID 26503795) and as an ID candidate gene (Gilessen 2014 PMID 24896178)
Created: 8 Mar 2018, 11:25 a.m.
Comment on phenotypes: Variants also associated with Hyper-IgD syndrome 260920 AR; Porokeratosis 3, multiple types 175900 AD
Created: 8 Mar 2018, 10:56 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Lu Raymond (university of cambridge )

Red List (low evidence)

History Filter Activity

15 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MVK were set to 29451047; 12563048; 10401001

15 Mar 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for MVK were set to 12563048; 10401001

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MVK was set to BIALLELIC, autosomal or pseudoautosomal

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen