Cerebral vascular malformations

Gene: HBB

Amber List (moderate evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

CVM is not a common feature of this condition. It has been reported before in individuals however no genetic testing was conducted to confirm the presence of a pathogenic variant in HBB associated with CVM/CM-AVM.
Created: 19 Nov 2024, 1:13 a.m. | Last Modified: 19 Nov 2024, 1:13 a.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
sickle cell anemia MONDO:0011382

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Variable clinical severity is reported even in patients with the same ß genotype (S/ß° or S//ß+), possibly due to other genetic or environmental modifiers (PMID: 31788855).
Beta-thalassemia is caused by a single gene - sequence analysis is performed first. followed by gene-targeted deletion/duplication if only one or no pathogenic variant is found (Table 3; PMID: 20301599). Some ß+
variants have a mild phenotype; however, the clinical severity in the homozygous state or compound heterozygous state with other ß0 or ß+ variants is variable (PMID: 20301599)

Suggested Dominant negative mechanism (PMID: 29700171)
Created: 29 Oct 2020, 10:25 p.m. | Last Modified: 29 Oct 2020, 10:25 p.m.
Panel Version: 0.5174

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Malaria, resistance to} 611162; Delta-beta thalassemia 141749; Erythrocytosis 6 617980; Heinz body anemia 140700; Hereditary persistence of fetal hemoglobin 141749; Methemoglobinemia, beta type 617971; Sickle cell anemia 603903; Thalassemia-beta, dominant inclusion-body 603902; Thalassemia, beta 613985

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Sickle cell anemia 603903
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 May 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HBB was added gene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HBB were set to 20301551 Phenotypes for gene: HBB were set to Sickle cell anemia 603903