Genomics England
GMS Panels
Panels
Genes and Entities

RSPH4A

radial spoke head 4 homolog A
OMIM: 612647
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary 612649
Green
in Respiratory ciliopathies including non-CF bronchiectasis
R-numbers: R189
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
sinusitis, chronic wet cough, nasal symptoms, rhinorrhea, recurrent respiratory infections, Primary Ciliary Dyskinesia, rhinitis, Reduced exercise tolerance, otitis media, nasal blockage, Bronchiectasis, short stature, deafness, glue ear, low weight, hearing problems, Ciliary dyskinesia, primary, 11, 612649