Genomics England
GMS Panels
Panels
Genes and Entities

EFCAB1

EF-hand calcium binding domain 1
PanelMode of inheritanceDetails
1 panel
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 53, OMIM:620642