CFAP47

cilia and flagella associated protein 47
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CFAP47 in Mendeliome


Version 1.2374

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spermatogenic failure, X-linked, 3, MIM# 301059
  • Cystic kidney disease MONDO:0002473

Amber CFAP47 in Renal Macrocystic Disease


Level 2: Renal and urinary tract disorders
Version 0.79

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cystic kidney disease MONDO:0002473