CFAP47:Ensemblv90

cilia and flagella associated protein 47
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CFAP47 in Mendeliome


Version 1.3802

3 reviews 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 0.100

Component of the following Super Panels:

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

    Amber CFAP47 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 1.0

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