Hereditary Erythrocytosis
Gene: HBBEnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 7 panels
2 reviews
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, 9:39 a.m.
Olivia Niblock (Genomics England Curator)
Comment on list classification: After further literature search and clinical review, it has been decided that this gene should be classed as "high evidence". It is important to note, however, that only the variants listed in the literature cited are linked to the Erythrocytosis phenotype, for example:
York β146 His>Pro
Other variants may be linked to other hematological phenotypes.Created: 8 May 2017, 11:44 a.m.
Comment on list classification: Different variants seen in >3 unrelated cases.Created: 4 May 2017, 2:04 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Familial erythrocytosis
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Erythrocytosis 6, OMIM:617980
- Tags
- OMIM
- 141900
- Clinvar variants
- Variants in HBB
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBB was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Olivia Niblock (Genomics England Curator)Publications for HBB were set to 28332377; 24115288; 23215953; 24482100; 20642336;19734427; 23388674;15921161
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Olivia Niblock (Genomics England Curator)Publications for HBB were set to 28332377; 24115288; 23215953; 24482100; 20642336
Set Phenotypes
Olivia Niblock (Genomics England Curator)Phenotypes for HBB were set to Familial erythrocytosis
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for HBB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Olivia Niblock (Genomics England Curator)HBB was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)HBB was added to Hereditary Erythrocytosispanel. Sources: Literature