Stroke
Gene: HBB
HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 9 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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: LiteratureCreated: 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
- 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