FDPS

farnesyl diphosphate synthase
OMIM: 134629, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green FDPS in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.22

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • porokeratosis 9, multiple types MONDO:0014713

Green FDPS in Mendeliome


Version 1.3741

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • porokeratosis 9, multiple types MONDO:0014713

Green FDPS in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • porokeratosis 9, multiple types MONDO:0014713