Genomics England
GMS Panels
Panels
Genes and Entities

HBB

hemoglobin subunit beta
OMIM: 141900
PanelMode of inheritanceDetails
4 panels
Green
in Haemoglobinopathy trait or carrier testing
R-numbers: R361
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis 6, OMIM:617980
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Delta-beta thalassemia, OMIM:141749, Heinz body anemia, OMIM:140700, Hereditary persistence of fetal hemoglobin, OMIM:141749, Methemoglobinemia, beta type, OMIM:617971, Thalassemia, beta, OMIM:613985, Thalassemia-beta, dominant inclusion-body, OMIM:603902, Sickle cell anemia, OMIM:603903
Green
in Thalassaemia and other haemoglobinopathies
R-numbers: R93
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes