Palmoplantar keratodermas

Gene: MVK

Green List (high evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Association is with porokeratosis, cannot find reports of PPK.
Created: 19 Aug 2020, 6:28 a.m. | Last Modified: 19 Aug 2020, 6:28 a.m.
Panel Version: 1.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Porokeratosis 3, multiple types, MIM# 175900

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MVK; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

History Filter Activity

10 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MVK were changed from porokeratosis of Mibelli; Actinic porokeratosis to Porokeratosis 3, multiple types, OMIM:175900

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MVK.

28 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MVK was added gene: MVK was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MVK were set to porokeratosis of Mibelli; Actinic porokeratosis