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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 8 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

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene HBB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HBB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Delta-beta thalassemia, 141749; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Thalassemia, beta, 613985; Hereditary persistence of fetal hemoglobin, 141749; Thalassemia-beta, dominant inclusion-body, 603902; Erythrocytosis 6, 617980; Sickle cell anemia, 603903 for gene: HBB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia, 141749; Thalassemia, beta, 613985; Erythrocytosis 6, 617980; Sickle cell anemia, 603903; Methmoglobinemia, beta type, 617971; Heinz body anemia, 140700; Hereditary persistence of fetal hemoglobin, 141749 for gene: HBB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HBB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HBB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HBB was added gene: HBB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HBB was set to