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Newborns main panel

Gene: HBB

Green List (high evidence)
HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with same MOI included.

Additional Information: Both Sickle cell disease (GOF) and Beta thalassaemia (LOF) included.
Created: 26 Sep 2024, 3:32 p.m. | Last Modified: 18 Nov 2025, 3:53 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 3:32 p.m.
Last Modified: 18 Nov 2025, 3:53 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
Not completely sure whether to put both phenotypes (beta-thalassemia and sickle cell) together in the same panel, as both are AR. Only the HbS allele is to be looked at for the sickle cell phenotype. Not sure how this knowledge will be captured?
Created: 10 May 2023, 8:44 a.m. | Last Modified: 10 May 2023, 8:44 a.m.
Panel Version: 0.76
Created: 10 May 2023, 8:44 a.m.
Last Modified: 10 May 2023, 8:44 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Beta Thalassaemia
Tags
special_consideration
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: HBB.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Beta Thalassaemia for gene: HBB

14 Jul 2023, Gel status: 3

Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

Mode of pathogenicity for gene: HBB was changed from Other to None

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Beta Thalassaemia for gene: HBB

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HBB were changed from Sickle Cell Disease; Beta Thalassaemia to Beta Thalassaemia

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Beta Thalassaemia for gene: HBB

10 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: HBB were changed from Beta Thalassaemia; Sickle Cell Disease to Sickle Cell Disease

9 May 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to HBB. Mode of pathogenicity for gene HBB was changed from to Other Added phenotypes Sickle Cell Disease for gene: HBB 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 HBB. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

gene: HBB was added gene: HBB was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Sickle Cell Disease; Beta Thalassaemia