Rare anaemia
Gene: HBB
Gene rating submitted by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group.Created: 18 Feb 2019, 2:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body
Variants in this GENE are reported as part of current diagnostic practice
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
603903 Sickle cell disease; 613985 Beta thalassaemia; 603902 Dominand inclusion body beta thalassaemia; 141749 Delta-beta thalassaemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; 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; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 p.m.
Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 603903 Sickle cell disease; 613985 Beta thalassaemia; 603902 Dominand inclusion body beta thalassaemia;141749 Delta-beta thalassaemia; PMID(s): 23637309; 20067565Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HBB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; 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; PMID(s): none submittedCreated: 6 Feb 2019, 12:14 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HBB were changed from Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903 to 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
Phenotypes for gene: HBB were changed from 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 to Delta-beta thalassemia, OMIM:141749; Heinz body anemia, OMIM:140700; Methemoglobinemia, beta type, OMIM:617971; Thalassemia, beta, OMIM:613985; Thalassemia-beta, dominant inclusion-body, OMIM:603902; Sickle cell anemia, OMIM:603903
Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; 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 for gene: HBB
Source North West GLH was added to HBB.
Added phenotypes 613985 Thalassemia, beta; 603902 Thalassemia-beta, dominant inclusion-body for gene: HBB
Source Yorkshire and North East GLH was added to HBB.
Added phenotypes 603903 Sickle cell disease; 603902 Dominand inclusion body beta thalassaemia; 141749 Delta-beta thalassaemia; 613985 Beta thalassaemia for gene: HBB Publications for gene HBB were changed from to 23637309; 20067565
Source London South GLH was added to HBB.
Source NHS GMS was added to HBB.
Source Expert Review Green was added to HBB. Mode of inheritance for gene HBB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythremias, beta-; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Methemoglobinemias, beta-; Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; 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 for gene: HBB Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HBB was added gene: HBB was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBB was set to