Rare anaemia
Gene: HBD
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
Unknown
Phenotypes
Thalassemia, delta; Thalassemiadue to HbLepore
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
Unknown
Phenotypes
Thalassemia,delta; Thalassemia due to Hb Lepore
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore
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: HBD; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thalassemia, delta; Thalassemiadue to HbLepore; 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: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: Unknown; Phenotypes: Thalassemia,delta; Thalassemia due to Hb Lepore; 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: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; PMID(s): 27630894; 25490067Created: 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: HBD; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: Unknown; Phenotypes: Thalassemia,delta;Thalassemia due to Hb Lepore; PMID(s): none submitted; Comments: Useful for phenotypic interpretationCreated: 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
Mode of inheritance for gene: HBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Thalassemiadue to HbLepore; Thalassemia, delta for gene: HBD
Source North West GLH was added to HBD.
Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD
Source Yorkshire and North East GLH was added to HBD.
Added phenotypes 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore for gene: HBD Publications for gene HBD were changed from to 27630894; 25490067
Source London South GLH was added to HBD.
Source NHS GMS was added to HBD.
Source Expert Review Green was added to HBD. Mode of inheritance for gene HBD was changed from to Unknown Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta for gene: HBD Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HBD was added gene: HBD was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBD was set to