Palmoplantar keratodermas
Gene: MVK
Palmoplantar keratodermas is not a feature of the phenotype associated with this gene.Created: 26 Feb 2024, 1:12 p.m. | Last Modified: 26 Feb 2024, 1:12 p.m.
Panel Version: 3.24
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
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.
Tag Q1_24_demote_red tag was added to gene: MVK. Tag Q1_24_expert_review tag was added to gene: MVK.
Phenotypes for gene: MVK were changed from porokeratosis of Mibelli; Actinic porokeratosis to Porokeratosis 3, multiple types, OMIM:175900
Source London North GLH was added to MVK.
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