Newborns additional phenotypes panel 1
Gene: HBB

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, 3:54 p.m.

Panel Version: 0.102

Created: 26 Sep 2024, 3:32 p.m.
Last Modified: 18 Nov 2025, 3:54 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.29

Sickle Cell Disease - GeneReviews - NCBI Bookshelf (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.26

testing for SS, SC, S-thal
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.25

Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Sickle Cell Disease

Tags

special_consideration

OMIM

141900

Clinvar variants

Variants in HBB

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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