CFAP47

cilia and flagella associated protein 47
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber CFAP47 in Cystic kidney disease


Level 2: Renal
Version 8.5
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • polycystic kidney disease, MONDO:0020642
    Tags
    • Q4_24_promote_green
    Red CFAP47 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Unknown
    Sources
    • Expert Review Red