Cerebral vascular malformations
Gene: HBBEnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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.
Alice Gardham (Genomics England)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Yorkshire and North East GLH
- NHS GMS
- Emory Genetics Laboratory
- UKGTN
- Literature
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Sickle cell anemia, OMIM:603903
- Tags
- OMIM
- 141900
- Clinvar variants
- Variants in HBB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia, OMIM:603903
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: HBB were changed from Sickle cell anemia 603903 to Sickle cell anemia 603903
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to HBB. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to HBB.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HBB.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Alice Gardham (Genomics England)HBB was added to Cerebrovascular disorderspanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
Created
Alice Gardham (Genomics England)HBB was created by agardham