Rare anaemia
Gene: HBG2
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Globin Disorder; Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
141749 Globin Disorder; Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
141749 Hereditary persistance of fetal haemoglobin
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: HBG2; Suggested initial 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, imprinted status unknown; Phenotypes: Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749; 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: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 141749 Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1; 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: HBG2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 141749 Hereditary persistance of fetal haemoglobin; PMID(s): 26500940Created: 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: HBG2; 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, imprinted status unknown; Phenotypes: Globin Disorder;Cyanosis, transient neonatal, 613977;Fetal hemoglobin quantitative trait locus 1,141749; PMID(s): none submitted; Comments: Useful for phenotypic interpretation. Also some rare mutations can result in neonatal cyanosis and anaemiaCreated: 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: HBG2 were changed from Globin Disorder; 141749 Globin Disorder; Fetal hemoglobin quantitative trait locus 1,141749; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Cyanosis, transient neonatal, 613977 to Fetal hemoglobin quantitative trait locus 1, OMIM:141749; Cyanosis, transient neonatal, OMIM:613977; Globin Disorder
Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2
Source North West GLH was added to HBG2.
Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1; 141749 Globin Disorder for gene: HBG2
Source Yorkshire and North East GLH was added to HBG2.
Added phenotypes 141749 Hereditary persistance of fetal haemoglobin for gene: HBG2 Publications for gene HBG2 were changed from to 26500940
Source London South GLH was added to HBG2.
Source NHS GMS was added to HBG2.
Source Expert Review Green was added to HBG2. Mode of inheritance for gene HBG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Cyanosis, transient neonatal, 613977; Fetal hemoglobin quantitative trait locus 1,141749; Globin Disorder for gene: HBG2 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HBG2 was added gene: HBG2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBG2 was set to