Genomics England
GMS Panels
Panels
Genes and Entities

RAD50

RAD50 double strand break repair protein
OMIM: 604040
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome-like disorder, OMIM:613078, MONDO:0013118
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome-like disorder, OMIM:613078