FDPS

farnesyl diphosphate synthase
OMIM: 134629, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green FDPS in Familial disseminated superficial actinic porokeratosis

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Porokeratosis 9, multiple types, 616631
  • DSAP/DSP
  • actinic or nonactinic disseminated superficial porokeratosis
  • POROK9
Tags
  • deletions
Green FDPS in Rare genetic inflammatory skin disorders


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631