Familial disseminated superficial actinic porokeratosisGene: FDPS
Comment on list classification: Updated rating from Red to Green after clinical discussion with Helen Brittain. Reasonable to include cases where DSAP and DSP have not been distinguished because it is sometimes hard to completely differentiate disseminated superficial actinic porokeratosis (DSAP) from disseminated superficial porokeratosis (DSP) in a clinical setting. Sufficient DSAP/DSP cases in PMID:26202976/27422687 to support causation.
Created: 7 Sep 2017, 10:40 a.m.
Comment on mode of inheritance: Monoallelic MOI supported by Zhang et al. (2015, PMID:26202976).
Created: 7 Sep 2017, 10:37 a.m.
Added 'deletions' tag based on large deletions found in 2 patients in PMID:26202976, including a 3,304-bp deletion.
Created: 7 Sep 2017, 10:36 a.m.
Zhang et al. (2015, PMID:26202976) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis. A total of 4 (don't specify relatedness) patients had FDPS mutations (2 familial, 2 sporadic). Note that DSAP and DSP subtypes (actinic and nonactinic) of porokeratosis are grouped together in this paper. Supplementary File 2 lists 4 variants (2 large deletions, a missense, and a splicing defect) 3 of which are included in OMIM.
Created: 7 Sep 2017, 10:31 a.m.
PMID:27422687 (Li et al., 2016) examined 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population. One novel splice mutation c.773 + 1 G>A of FDPS was identified in the proband of family 10 with DSAP/DSP.
Created: 22 Jun 2017, 7:49 a.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 Green List (High Evidence).
Mode of inheritance for FDPS was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for FDPS were set to 26202976; 26816331 (correction for PMID:26202976); 27422687
Phenotypes for FDPS were set to Porokeratosis 9, multiple types, 616631; DSAP/DSP; actinic or nonactinic disseminated superficial porokeratosis; POROK9
Phenotypes for FDPS were set to disseminated superficial actinic porokeratosis; DSAP; POROK9; Porokeratosis 9, multiple types, 616631; DSAP/DSP
Publications for FDPS were set to 26202976; 26816331 (correction for PMID:26202976)
FDPS was added to Familial disseminated superficial actinic porokeratosispanel. Source: Radboud University Medical Center, Nijmegen
FDPS was added to Familial disseminated superficial actinic porokeratosispanel. Sources: Other
FDPS was created by rfoulger