Activity
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18 actions
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| Rare anaemia v1.44 | HBA1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | HBA1 | Louise Daugherty commented on gene: HBA1: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | HBA1 | Steve Keeney reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Globin Disorder, Erythremias, alpha-, Heinz body anemias, alpha-, 140700, Hemoglobin H disease, nondeletional, 613978, Methemoglobinemias, alpha-, Thalassemias, alpha-, 604131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | HBA1 | Louise Daugherty Added phenotypes Erythremias, alpha-; Globin Disorder; Methemoglobinemias, alpha-; Heinz body anemias, alpha-, 140700; Hemoglobin H disease, nondeletional, 613978; Thalassemias, alpha-, 604131 for gene: HBA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | HBA1 | Louise Daugherty Source North West GLH was added to HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | HBA1 | Louise Daugherty commented on gene: HBA1: 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 submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | HBA1 | Mandy nesbitt reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 604131 Thalassemias, alpha; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | HBA1 | Louise Daugherty Added phenotypes 604131 Thalassemias, alpha for gene: HBA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | HBA1 | Louise Daugherty Source Yorkshire and North East GLH was added to HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | HBA1 | Louise Daugherty commented on gene: HBA1: 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): 2050764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | HBA1 | Frances Smith reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2050764; Phenotypes: 604131 Alpha thalassaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | HBA1 |
Louise Daugherty Added phenotypes 604131 Alpha thalassaemia for gene: HBA1 Publications for gene HBA1 were changed from to 2050764 |
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| Rare anaemia v0.7 | HBA1 | Louise Daugherty Source London South GLH was added to HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | HBA1 | Louise Daugherty reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | HBA1 | Carl Fratter reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | HBA1 | Louise Daugherty Source NHS GMS was added to HBA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | HBA1 |
Louise Daugherty 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) |
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| Rare anaemia v0.2 | HBA1 |
Louise Daugherty 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 |
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