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Prepair 1000+

Gene: HBB

Green List (high evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease associations.

Congenital onset. Sickle cell disease is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established.
Created: 13 Mar 2025, 3:05 a.m. | Last Modified: 13 Mar 2025, 3:05 a.m.
Panel Version: 1.1577

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sickle cell anaemia, MIM# 603903

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thalassemias, beta-, 613985 (3)
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Thalassemias, beta-, 613985 (3) for gene: HBB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBB was added gene: HBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)