Stroke

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Stroke can be a feature of sickle cell anemia, with the following subtypes reported: large artery non-atherosclerosis aneurysms, venous thrombosis, and arterial thrombosis.
Sources: Literature
Created: 11 May 2020, 11:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sickle cell anemia MIM#603903

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Sickle cell anemia MIM#603903
Tags
SV/CNV
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hbb has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: HBB.

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: hbb has been classified as Green List (High Evidence).

11 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HBB was added gene: HBB was added to Stroke. Sources: Literature Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBB were set to 30356112; 19589461; 7782612; 20301551 Phenotypes for gene: HBB were set to Sickle cell anemia MIM#603903 Review for gene: HBB was set to GREEN