Genomics England
GMS Panels
Panels
Genes and Entities

CD59

CD59 molecule (CD59 blood group)
OMIM: 107271
PanelMode of inheritanceDetails
2 panels
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300, CD59 antigen P18-20 deficiency (CD59), Membrane Attack Complex Inhibitor (CD59) deficiency, Primary CD59 deficiency, paroxysmal nocturnal haemoglobinuria, chronic hemolysis, childhood relapsing immune-mediated polyneuropathy, Hemolytic anemia, polyneuropathy, Complement Deficiencies
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
305000 Dyskeratosis congenita, X-linked, Dyskeratosis congenita, X-linked, 305000