FDFT1

farnesyl-diphosphate farnesyltransferase 1
OMIM: 184420, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red FDFT1 in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • Defect in Cholesterol Biosynthesis
    Amber FDFT1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Squalene synthase deficiency, 618156
    Tags
    • watchlist
    Amber FDFT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Squalene synthase deficiency, 618156
    Tags
    • watchlist