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Newborns main panel

Gene: HBA2

Amber List (moderate evidence)
HBA2 (hemoglobin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000188536
EnsemblGeneIds (GRCh37): ENSG00000188536
OMIM: 141850, Gene2Phenotype
HBA2 is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Variants not reliably detected by current pipeline.
Created: 4 Nov 2024, 3:26 p.m. | Last Modified: 4 Nov 2024, 3:26 p.m.
Panel Version: 0.469
Created: 4 Nov 2024, 3:26 p.m.
Last Modified: 4 Nov 2024, 3:26 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
HbVar (psu.edu)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
special algorithm to detect copy number
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Alpha Thalassaemia
OMIM
141850
Clinvar variants
Variants in HBA2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to HBA2. Added phenotypes Alpha Thalassaemia for gene: HBA2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha Thalassaemia for gene: HBA2

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha Thalassaemia for gene: HBA2

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HBA2. Added phenotypes Alpha Thalassaemia for gene: HBA2 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to HBA2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Alpha Thalassaemia for gene: HBA2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: HBA2 was added gene: HBA2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal