HBB

hemoglobin subunit beta
OMIM: 141900, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green HBB in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.35
Latest signed off version: v1.19 (30 Sep 2020)

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 0.7

review Not set
Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Beta-Thalassemia

Red HBB in COVID-19 research


Level 2: Viral research
Version 1.79

review Not set
Sources
  • OMIM

Amber HBB in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.55
Latest signed off version: v2.2 (2 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Emory Genetics Laboratory
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 1.87

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
  • Globin Disorder
  • Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749
  • Erythremias, beta-
  • Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700
  • Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749
  • Methemoglobinemias, beta-
  • Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903
  • Thalassemia-beta, dominant inclusion-body, 603902
  • Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985
Tags
  • gene-therapy-trial
  • cnv

Green HBB in Rare anaemia


Version 1.24
Latest signed off version: v1.2 (3 Mar 2020)

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
  • 603902 Dominand inclusion body beta thalassaemia
  • Erythremias, beta-
  • Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700
  • Globin Disorder
  • 141749 Delta-beta thalassaemia
  • 613985 Beta thalassaemia
  • Methemoglobinemias, beta-
  • Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985
  • 603903 Sickle cell disease
  • 603902 Thalassemia-beta, dominant inclusion-body
  • Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903
  • Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749
  • Thalassemia-beta, dominant inclusion-body, 603902
  • Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749
  • 613985 Thalassemia, beta

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 1.81

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