Retinal disorders
Gene: MVK
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
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
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
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
retinal phenotype?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
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 aciduriaCreated: 23 Mar 2016, 4:51 p.m.
Tag Q4_23_promote_green tag was added to gene: MVK. Tag Q4_23_NHS_review tag was added to gene: MVK.
Gene: mvk has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MVK were changed from Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; retinitis pigmentosa, MONDO:0019200
Publications for gene: MVK were set to 24084495
Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Gene: mvk has been classified as Amber List (Moderate Evidence).
Publications for gene: MVK were set to 24084495; 12563048
Publications for gene: MVK were set to
Phenotypes for gene: MVK were changed from Hyper-IgD syndrome; Mevalonic aciduria to Hyper-IgD syndrome; Mevalonic aciduria; Non-syndromic RP
Source NHS GMS was added to MVK.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MVK was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
MVK was created by ellenmcdonagh
MVK was added to Posterior segment abnormalitiespanel. Sources: Expert list