CFAP54

cilia and flagella associated protein 54
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green CFAP54 in Respiratory ciliopathies including non-CF bronchiectasis


Level 2: Respiratory
Version 4.55
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 54, OMIM:621125
Tags
  • gene-checked