Rare anaemia
Gene: HBA1
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; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Methemoglobinemias, alpha-; Thalassemias, alpha-, 604131
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
604131 Thalassemias, alpha
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
604131 Alpha 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: HBA1; 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;Erythremias, alpha-;Heinz body anemias, alpha-, 140700;Hemoglobin H disease, nondeletional, 613978;Methemoglobinemias, alpha-;Thalassemias, alpha-, 604131; 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: HBA1; 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: 604131 Thalassemias, alpha; 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: HBA1; 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: 604131 Alpha thalassaemia; PMID(s): 2050764Created: 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: HBA1; 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;Erythremias, alpha-;Heinz body anemias, alpha-, 140700;Hemoglobin H disease, nondeletional, 613978;Methemoglobinemias, alpha-;Thalassemias, alpha-, 604131; PMID(s): none submitted; Comments: Could be difficult to do by NGS/WGSCreated: 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: HBA1 were changed from 604131 Thalassemias, alpha; Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; 604131 Alpha thalassaemia; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 to Erythrocytosis 7, OMIM:617981; Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131
Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1
Source North West GLH was added to HBA1.
Added phenotypes 604131 Thalassemias, alpha for gene: HBA1
Source Yorkshire and North East GLH was added to HBA1.
Added phenotypes 604131 Alpha thalassaemia for gene: HBA1 Publications for gene HBA1 were changed from to 2050764
Source London South GLH was added to HBA1.
Source NHS GMS was added to HBA1.
Source Expert Review Green was added to HBA1. Mode of inheritance for gene HBA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HBA1 was added gene: HBA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HBA1 was set to