Retinal disorders

Gene: MVK

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 2 May 2024, 1:45 p.m. | Last Modified: 2 May 2024, 1:45 p.m.

Panel Version: 5.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: As reviewed by Siying Lin, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 19 Dec 2023, 5:59 p.m. | Last Modified: 19 Dec 2023, 5:59 p.m.

Panel Version: 4.48

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa, MONDO:0019200

Green List (high evidence)

PMID: 35916082 - an individual compound heterozygous for c.803T>C; p.(Ile268Thr) and c.768+71C>A, initially diagnosed as non-syndromic RP, subsequent re-phenotyping revealed ataxia, cerebellar atrophy, elevated urinary mevalonate and LTE4.

Our in-house cohort has identified another patient with the same genotype initially diagnosed with simplex RP and learning difficulties.

It may be that milder variants in this gene can present with an attenuated systemic phenotype with the retinal features being the main presenting feature.

Created: 12 Dec 2023, 7:12 a.m. | Last Modified: 12 Dec 2023, 7:12 a.m.

Panel Version: 4.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinal dystrophy

Publications

• PMID: 35916082

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

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

• 24084495

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

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

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.