Hereditary Erythrocytosis
Gene: HBBAdded 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.
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
Phenotypes for gene: HBB were changed from Familial erythrocytosis to Erythrocytosis 6, OMIM:617980
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Mode of inheritance for HBB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for HBB was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for HBB were set to 28332377; 24115288; 23215953; 24482100; 20642336;19734427; 23388674;15921161
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 Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for HBB were set to 28332377; 24115288; 23215953; 24482100; 20642336
Phenotypes for HBB were set to Familial erythrocytosis
Mode of inheritance for HBB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
HBB was created by oniblock
HBB was added to Hereditary Erythrocytosispanel. Sources: Literature