Mosaic skin disorders - deep sequencingGene: PMVK
Heterozygous germline variants + second somatic hit (point mutation or LOH) in affected tissues.
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
Gene: pmvk has been classified as Amber List (Moderate Evidence).
gene: PMVK was added gene: PMVK was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Red Mode of inheritance for gene: PMVK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PMVK were set to 30942823 Phenotypes for gene: PMVK were set to Linear porokeratosis