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Retinal disorders

Gene: MVK

Amber List (moderate evidence)

MVK (mevalonate kinase)
EnsemblGeneIds (GRCh38): ENSG00000110921
EnsemblGeneIds (GRCh37): ENSG00000110921
OMIM: 251170, Gene2Phenotype
MVK is in 21 panels

5 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber based on evidence provided by expert reviewer. MVK is not associated with an eye phenotype in OMIM or Gene2Phenotype.
Created: 24 Sep 2019, 9:37 a.m. | Last Modified: 24 Sep 2019, 9:37 a.m.
Panel Version: 1.165

Tom Cullup (Great Ormond Street Hospital)

I don't know

This gene is not linked to an eye condition on OMIM but is reported on RetNet for recessive retinitis pigmentosa. Siemiatkowska et al 2013 PMID: 24084495. 3 affected individuals over 2 families. Therefore currently insufficient for green.
Created: 20 Sep 2019, 1:11 p.m. | Last Modified: 20 Sep 2019, 1:11 p.m.
Panel Version: 1.161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Non-syndromic RP

Publications

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

I don't know

retinal phenotype?
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159

Simon Ramsden (NHS)

I don't know

Mutations in this gene cause mevalonate kinase deficiency. Retinitis pigmentosa can occur as a complication of mevalonate kinase deficiency however this is a distinct differential diagnosis and probably does not warrant inclusion in the panel.
Created: 1 Jun 2016, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:06 a.m.
Comment on mode of inheritance: For Hyper-IgD syndrome and Mevalonic aciduria
Created: 23 Mar 2016, 4:51 p.m.

History Filter Activity

24 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mvk has been classified as Amber List (Moderate Evidence).

24 Sep 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MVK were set to 24084495; 12563048

24 Sep 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MVK were set to

24 Sep 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria to Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP

3 Apr 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MVK.

1 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Mar 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MVK was changed to BIALLELIC, autosomal or pseudoautosomal

23 Mar 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

23 Mar 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MVK was added to Posterior segment abnormalitiespanel. Sources: Expert list

23 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MVK was created by ellenmcdonagh