Familial disseminated superficial actinic porokeratosisGene: SLC17A9
Added '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 review (1 red, 1 Amber expert review) plus 2 unrelated cases (both in Chinese population) supporting causation for DSAP subtype of porokeratosis (PK).
Created: 22 Jun 2017, 1:07 p.m.
In affected members of 2 unrelated Chinese families segregating autosomal dominant disseminated superficial actinic porokeratosis-8 (POROK8; MIM:616063), Cui et al. (2014, PMID:25180256) identified 2 different heterozygous missense mutations: R311Q and R9C.
Created: 14 Mar 2017, 2:51 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.
Phenotypes for SLC17A9 were set to Porokeratosis 8, disseminated superficial actinic type, 616063; disseminated superficial actinic porokeratosis-8; POROK8; Disseminated superficial actinic porokeratosis (DSAP)
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC17A9 were set to 25180256; 25596766 (article in French)
Publications for SLC17A9 were set to 25180256
SLC17A9 was added to Familial disseminated superficial actinic porokeratosispanel. Source: Other Model of inheritance for gene SLC17A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SLC17A9 was created by rfoulger
SLC17A9 was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen