Genomics England
GMS Panels
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Genes and Entities

HBB

hemoglobin subunit beta
OMIM: 141900
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Erythrocytosis 6, OMIM:617980
Green
in Rare anaemia
R-numbers: R92
Signed-off version 4.7
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 Sickle cell, thalassaemia and other haemoglobinopathies
R-numbers: R93, R361
Signed-off version 2.11
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Heinz body anemia, OMIM:140700, Delta-beta thalassemia, OMIM:141749, Hereditary persistence of fetal hemoglobin, OMIM:141749, Thalassemia-beta, dominant inclusion-body, OMIM:603902, Sickle cell disease, OMIM:603903, Thalassemia, beta, OMIM:613985, Methemoglobinemia, beta type, OMIM:617971, Erythrocytosis, familial, 6, OMIM:617980, dominant beta-thalassemia, MONDO:0011381, sickle cell disease, MONDO:0011382, beta-thalassemia HBB/LCRB, MONDO:0013517, hemoglobin M disease, MONDO:0018023, erythrocytosis, familial, 6, MONDO:0054801