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 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

I don't know

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:40 a.m.

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on list classification: Usually small vessel disease but moyamoya and aneurysms reported
Created: 14 Dec 2016, 3:14 p.m.
Comment on list classification: Usually small vessel disease but three cases of Moyamoya reported
Created: 14 Dec 2016, 3:14 p.m.
50% of individuals with SCD will manifest some degree of cerebrovascular disease by age 14
Created: 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
  • Emory Genetics Laboratory
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sickle cell anemia 603903
Tags
gene-therapy-trial
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Nov 2019, Gel status: 2

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)

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to HBB.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to HBB.

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

14 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

14 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

8 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

HBB was added to Cerebrovascular disorderspanel. Sources: Literature,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN

8 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

HBB was created by agardham