HBB

hemoglobin subunit beta
OMIM: 141900, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HBB in Hereditary Erythrocytosis Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Erythrocytosis 6, OMIM:617980 Tags gene-therapy-trial
Green HBB in Gene therapy clinical trials Level 3: Clinical trials Level 2: Actionable information Version 0.9	review	Not set	Sources Expert Review Green ClinicalTrials.gov Phenotypes Beta-Thalassemia
Red HBB in COVID-19 research Level 2: Viral research Version 1.142	review	Not set	Sources OMIM
Amber HBB in Cerebral vascular malformations Level 3: Cerebrovascular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Literature Phenotypes Sickle cell anemia, OMIM:603903 Tags gene-therapy-trial
Green HBB in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Delta-beta thalassemia, OMIM:141749 Heinz body anemia, OMIM:140700 Hereditary persistence of fetal hemoglobin, OMIM:141749 Methemoglobinemia, beta type, OMIM:617971 Thalassemia, beta, OMIM:613985 Thalassemia-beta, dominant inclusion-body, OMIM:603902 Sickle cell anemia, OMIM:603903 Tags gene-therapy-trial cnv
Green HBB in Rare anaemia Version 3.8 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Delta-beta thalassemia, OMIM:141749 Heinz body anemia, OMIM:140700 Hereditary persistence of fetal hemoglobin, OMIM:141749 Methemoglobinemia, beta type, OMIM:617971 Thalassemia, beta, OMIM:613985 Thalassemia-beta, dominant inclusion-body, OMIM:603902 Sickle cell anemia, OMIM:603903
Green HBB in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert review green Literature Phenotypes Other Nephropathy of unknown origin Sickle cell disease MIM 603903
Green HBB in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Delta-beta thalassemia, 141749 Methmoglobinemia, beta type, 617971 Heinz body anemia, 140700 Thalassemia, beta, 613985 Thalassemia-beta, dominant inclusion-body, 603902 Hereditary persistence of fetal hemoglobin, 141749 Erythrocytosis 6, 617980 Sickle cell anemia, 603903
Green HBB in Haemoglobinopathy trait or carrier testing Version 1.7 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green
Green HBB in Thalassaemia and other haemoglobinopathies Version 1.7 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS