Genomics England
GMS Panels
Panels
Genes and Entities

CFAP47

cilia and flagella associated protein 47
PanelMode of inheritanceDetails
1 panel
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
  • - Unexplained young onset end-stage renal disease
Signed-off version 9.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
polycystic kidney disease, MONDO:0020642