Cerebral vascular malformations
Gene: HBB
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
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
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