Familial disseminated superficial actinic porokeratosis
Gene: PMVK
Comment when marking as ready: PMVK marked as Ready, June 22nd 2017.Created: 22 Jun 2017, 8:17 a.m.
Comment on list classification: Kept rating as Red: Red review plus PMVK mutations cause subtypes of porokeratosis that are distinct from disseminated superficial actinic porokeratosis (DSAP).Created: 22 Jun 2017, 8:16 a.m.
Zhang et al. (2015, PMID:26202976) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified PMVK mutations: 9 cases (including related individuals) reported in Table 1. 2 variants (from a family and an individual) recorded in OMIM. These cases do NOT include DSAP/DSP cases though and instead include other subtypes of porokeratosis.Created: 22 Jun 2017, 8:14 a.m.
Wang et al 2016 (PMID:27052676) investigated the genetic basis of DSP in two five-generation Chinese families with members diagnosed with DSP. By whole-exome sequencing, they identified a nonsense variation c.412C>T (p.Arg138*) in PMVK in both families.Created: 14 Mar 2017, 2:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Porokeratosis 1, multiple types, 175800; POROKERATOSIS OF MIBELLI
Publications
Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for PMVK were set to 26202976; 26816331 (correction for PMID:26202976); 27052676
PMVK was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Other
PMVK was created by rfoulger