Genomics England
GMS Panels
Panels
Genes and Entities

CD46

CD46 molecule
OMIM: 120920
PanelMode of inheritanceDetails
3 panels
Green
in Atypical haemolytic uraemic syndrome
R-numbers: R201
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922, Membrane Cofactor Protein (CD46) deficiency, atypical HUS, Atypical hemolytic-uremic syndrome, infections, preeclampsia, Complement Deficiencies
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922