Mosaic skin disorders - deep sequencingGene: MVK
?No evidence of mosaicism in this paper (or others that I've seen) - seem to be dominant pedigrees.
Created: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Actinic porokeratosis; porokeratosis of Mibelli (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: 31 Jan 2019, 2:50 p.m.
Tag curated_removed tag was added to gene: MVK.
Source Expert Review Removed was added to MVK. Publications for gene MVK were changed from to 24781643 Rating Changed from Green List (high evidence) to No List (delete)
Source London North GLH was added to MVK.
gene: MVK was added gene: MVK was added to Mosaic skin disorders - deep sequencing. 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 Actinic porokeratosis; porokeratosis of Mibelli