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Severe Paediatric Disorders

Gene: HBB

Green List (high evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HBB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Delta-beta thalassemia, 141749 (3) | Erythrocytosis 6, 617980 (3) | Heinz body anemia, 140700 (3) | Hereditary persistence of fetal hemoglobin, 141749 (3) | Methmoglobinemia, beta type, 617971 (3) | Sickle cell anemia, 603903 (3) | Thalassemia, beta, 613985 (3) | Thalassemia-beta, dominant inclusion-body, 603902 (3); Mode of inheritance: Autosomal dominant | ND | Autosomal dominant | Autosomal dominant | ND | Autosomal recessive | ND | ND
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Delta-beta thalassemia, 141749
  • Methmoglobinemia, beta type, 617971
  • Heinz body anemia, 140700
  • Thalassemia, beta, 613985
  • Thalassemia-beta, dominant inclusion-body, 603902
  • Hereditary persistence of fetal hemoglobin, 141749
  • Erythrocytosis 6, 617980
  • Sickle cell anemia, 603903
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Publications
Panels with this gene