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Severe Paediatric Disorders

Gene: HBA2

Green List (high evidence)

HBA2 (hemoglobin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000188536
EnsemblGeneIds (GRCh37): ENSG00000188536
OMIM: 141850, Gene2Phenotype
HBA2 is in 6 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: HBA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Erythrocytosis 7, 617981 (3) | Heinz body anemia, 140700 (3) | Hemoglobin H disease, deletional and nondeletional, 613978 (3) | Thalassemia, alpha-, 604131 (3); Mode of inheritance: ND | Autosomal dominant | 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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrocytosis 7, 617981
  • Hemoglobin H disease, deletional and nondeletional, 613978
  • Thalassemia, alpha-, 604131
  • Heinz body anemia, 140700
OMIM
141850
Clinvar variants
Variants in HBA2
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 HBA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HBA2 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrocytosis 7, 617981; Hemoglobin H disease, deletional and nondeletional, 613978; Thalassemia, alpha-, 604131; Heinz body anemia, 140700 for gene: HBA2

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Thalassemia, alpha-, 604131; Hemoglobin H disease, deletional and nondeletional, 613978; Heinz body anemia, 140700; Erythrocytosis 7, 617981 for gene: HBA2

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HBA2.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HBA2. 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: HBA2 was added gene: HBA2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HBA2 was set to