Genomics England
GMS Panels
Panels
Genes and Entities

CFAP52

cilia and flagella associated protein 52
OMIM: 609804
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Green
in Laterality disorders and isomerism
R-numbers: R139
Signed-off version 3.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
visceral heterotaxy, MONDO:0018677