| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.3698 | FDPS | Bryony Thompson Marked gene: FDPS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3698 | FDPS | Bryony Thompson Gene: fdps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3698 | FDPS | Bryony Thompson Classified gene: FDPS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3698 | FDPS | Bryony Thompson Gene: fdps has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3697 | FDPS |
Bryony Thompson gene: FDPS was added gene: FDPS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FDPS were set to 26202976; 30561051; 38283795; 41240373 Phenotypes for gene: FDPS were set to porokeratosis 9, multiple types MONDO:0014713 Review for gene: FDPS was set to GREEN Added comment: PMID 26202976 reports 4 individuals from 4 families with autosomal dominant loss‑of‑function FDPS variants causing extensive porokeratosis; PMID 30561051 adds 2 affected individuals from 1 family with disseminated superficial actinic porokeratosis; PMID 38283795 describes a single case of disseminated superficial porokeratosis; and PMID 41240373 reviews 22 individuals from the literature and an additional 3 families, with disseminated superficial actinic porokeratosis / disseminated superficial porokeratosis and genital porokeratosis. Sources: Literature |
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