Familial disseminated superficial actinic porokeratosis
Gene: SART3Added 'watchlist' tag as additional DSAP reports could change the rating of this gene.Created: 4 Sep 2017, 2:20 p.m.
Comment on list classification: Updated rating from Red to Amber based on external expert review (1 Amber review by Prof. John McGrath), although only 1 published case (in China).Created: 3 Jul 2017, 10:47 a.m.
In all 17 affected members of a 6-generation Chinese family with disseminated superficial actinic porokeratosis (POROK3, DSAP1; MIM:175900), Zhang et al. (2005, PMID:15840095) identified a 1771G-A transition in the SART3 gene, resulting in a val591-to-met (V591M) substitution. The mutation was also found in 2 of 7 family members whose phenotypes were uncertain. This variants is classified as 'uncertain' in OMIM because its contribution to the disorder has not been confirmed.Created: 14 Mar 2017, 3:05 p.m.
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.
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 Amber List (Moderate Evidence).
SART3 was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen
SART3 was created by rfoulger