Familial disseminated superficial actinic porokeratosis
Gene: SART3
SART3 (squamous cell carcinoma antigen recognized by T-cells 3)
EnsemblGeneIds (GRCh38): ENSG00000075856
EnsemblGeneIds (GRCh37): ENSG00000075856
OMIM: 611684, Gene2Phenotype
SART3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000075856
EnsemblGeneIds (GRCh37): ENSG00000075856
OMIM: 611684, Gene2Phenotype
SART3 is in 4 panels
2 reviews
Rebecca Foulger (Genomics England curator)
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 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.
John McGrath (KCL)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- disseminated superficial actinic porokeratosis
- DSAP
- Tags
- OMIM
- 611684
- Clinvar variants
- Variants in SART3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
7 Sep 2017, Gel status: 2
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.
22 Jun 2017, Gel status: 2
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
8 Nov 2016, Gel status: 1
Added New Source
Rebecca Foulger (Genomics England curator)SART3 was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Radboud University Medical Center, Nijmegen
8 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)SART3 was created by rfoulger