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Cytopenias and congenital anaemias

Gene: HBB

Green List (high evidence)

HBB (hemoglobin subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000244734
EnsemblGeneIds (GRCh37): ENSG00000244734
OMIM: 141900, Gene2Phenotype
HBB is in 8 panels

4 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/412
Created: 14 May 2018, 9:40 a.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Different mutations are associated with different phenotypes. Sickle cell disease encompasses a group of disorders associated with pathogenic variants in HBB and defined by the presence of predominantly hemoglobin S (Hb S). Hemoglobin S results from a single nucleotide variant in HBB (Glu6Val). Sickle cell anemia (homozygous Hb SS) accounts for 60%-70% of sickle cell disease in the US. Sickle cell disease may also result from coinheritance of the HBB Glu6Val hemoglobin S pathogenic variant with a second HBB pathogenic variant, such as: Glu6Lys, Glu121Gln, Glu121Lys, Glu26Lys, or beta thalassemia variants.
Beta-thalassemia can be caused by homozygous or compound heterozygous mutation in HBB. Beta-thalassemia may also be due to deletion of the entire beta-globin gene cluster or of sequences 5-prime from the beta-globin gene cluster (these sequences are referred to as the locus control region beta).
Hereditary persistence of fetal hemoglobin (HPFH) can result from deletions within or encompassing HBB.
Created: 10 Mar 2017, 4:28 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Sickle cell anemia 603903; Delta-beta thalassemia 141749; Heinz body anemias, beta-140700; Hereditary persistence of fetal hemoglobin 141749

Louise Daugherty (Genomics England Curator)

Comment on list classification: Needs further discussion with clinical team
Created: 2 Mar 2017, 2:43 p.m.
Comment on phenotypes: added known MOI that are specific to the disorders
Created: 1 Mar 2017, 12:46 p.m.
Comment on phenotypes: updated relevant phenotypes from OMIM
Created: 28 Feb 2017, 5:27 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Globin Disorder

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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
cnv gene-therapy-trial
OMIM
141900
Clinvar variants
Variants in HBB
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

2 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

1 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HBB were set to 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

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Feb 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list

28 Feb 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Feb 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

28 Feb 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for HBB was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

28 Feb 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HBB were set to 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;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-,613985

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HBB was created by LouiseD

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HBB was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen