Genomics England
GMS Panels
Panels
Genes and Entities

CFAP54

cilia and flagella associated protein 54
PanelMode of inheritanceDetails
1 panel
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 54, OMIM:621125