Cerebral vascular malformations
Gene: HBB
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain): amber in view of likely presentation in alternative manner alongside lack of structural vascular pathology, presenting with vessel occlusion.Created: 29 Nov 2019, 7:04 p.m. | Last Modified: 29 Nov 2019, 7:04 p.m.
Panel Version: 1.67
Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:40 a.m.
Comment on list classification: Usually small vessel disease but moyamoya and aneurysms reportedCreated: 14 Dec 2016, 3:14 p.m.
Comment on list classification: Usually small vessel disease but three cases of Moyamoya reportedCreated: 14 Dec 2016, 3:14 p.m.
50% of individuals with SCD will manifest some degree of cerebrovascular disease by age 14Created: 8 Dec 2016, 2:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sickle cell anemia 603903
Publications
Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia, OMIM:603903
Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia 603903
Source Expert Review Amber was added to HBB. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Source Yorkshire and North East GLH was added to HBB.
Source NHS GMS was added to HBB.
Promoted to version 1 on the 19th December 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
HBB was added to Cerebrovascular disorderspanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
HBB was created by agardham