Genomics England
GMS Panels
Panels
Genes and Entities

RSPH3

radial spoke head 3 homolog
OMIM: 615876
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 32, 616481