Familial disseminated superficial actinic porokeratosis
Gene: MVK
The pathogenic mutations reported in MVK, SART3 and SLC17A9 have only been reported in China, yet the condition is worldwide and others have not found anything in these genes.Created: 20 Jun 2017, 12:47 p.m.
Comment when marking as ready: Marked MVK as ready: June 22nd 2017.Created: 22 Jun 2017, 1:04 p.m.
Comment on list classification: Kept rating as Green: 1 Green review plus 1 Amber review. Mutations in MVK gene have found to cause multiple types of porokeratosis, but MVK has been reported to be the main candidate gene associated with DSAP. Sufficient (>3) cases of mutations in patients with DSAP subtype from OMIM and literature search (e.g. PMID:26794421, 25059119, 24551296, 22983302). Although all cases so far are from Chinese populations, multiple MVK variants have been identified.Created: 22 Jun 2017, 1:04 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 green review plus sufficient unrelated cases to support causation (from Chinese population).Created: 20 Jun 2017, 12:54 p.m.
Liu et al. 2016 (PMID:26794421) identify 3 mutations in MVK in 6 sporadic cases of DSAP: c.1126G>A (G376S), c.31C>T (P11S) and c.1004G>A (G335D).Created: 14 Mar 2017, 3:02 p.m.
Zhang et al. (2015, PMID:26202976) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis. Among the 60 familial patients in whom at least one mutation was found, 24 had MVK mutations, and one had both MVK and MVD mutations. Among the 53 sporadic patients in whom at least one mutation was found, 14 had MVK mutations. Note that these figures include related individuals.Created: 14 Mar 2017, 2:47 p.m.
In 18 of 57 Chinese probands with autosomal dominant disseminated superficial actinic porokeratosis (POROK3; MIM:175900) and in 4 of 25 patients with sporadic occurrence of the disease, Zhang et al. (2012, PMID:22983302) identified 14 different heterozygous mutations in the MVK gene.Created: 14 Mar 2017, 2:04 p.m.
Phenotypes for gene: MVK were changed from Porokeratosis 3, multiple types, 175900; Porokeratosis 3, Multiple Types; POROK3; DSAP1; POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1; Porokeratosis 3, Disseminated Superficial Actinic Type to Porokeratosis 3, multiple types, OMIM:175900
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 Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421; 28543715
Mode of inheritance for MVK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976); 26794421
Publications for MVK were set to 22983302; 24781643; 26202976; 26816331 (correction for PMID:26202976)
Publications for MVK were set to 22983302; 24781643
MVK was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other
MVK was added to Familial disseminated superficial actinic porokeratosispanel. Source: UKGTN Model of inheritance for gene MVK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MVK was created by rfoulger
MVK was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen