Activity
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21 actions
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| Rare anaemia v0.38 | AK1 | Louise Daugherty Classified gene: AK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.38 | AK1 | Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.38 | AK1 | Louise Daugherty Gene: ak1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.37 | AK1 | Louise Daugherty commented on gene: AK1: Discrepant reviews, to be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | AK1 | Louise Daugherty commented on gene: AK1: 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: AK1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | AK1 | Steve Keeney reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28211224; Phenotypes: Hemolytic anemia due to adenylate kinase deficiency, 612631; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | AK1 |
Louise Daugherty Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Publications for gene AK1 were changed from 10233365; 9432020; 12649162 to 28211224 |
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| Rare anaemia v0.22 | AK1 | Louise Daugherty Source North West GLH was added to AK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | AK1 | Louise Daugherty commented on gene: AK1: 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: AK1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | AK1 | Mandy nesbitt reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | AK1 | Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | AK1 | Louise Daugherty Source Yorkshire and North East GLH was added to AK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | AK1 | Louise Daugherty commented on gene: AK1: 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: AK1; 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: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): 10233365; 9432020; 12649162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | AK1 | Frances Smith reviewed gene: AK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10233365, 9432020, 12649162; Phenotypes: 612631 Hemolytic anemia due to adenylate kinase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | AK1 |
Louise Daugherty Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1 Publications for gene AK1 were changed from to 10233365; 9432020; 12649162 |
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| Rare anaemia v0.7 | AK1 | Louise Daugherty Source London South GLH was added to AK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | AK1 | Louise Daugherty reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | AK1 | Carl Fratter reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | AK1 | Louise Daugherty Source NHS GMS was added to AK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | AK1 |
Louise Daugherty Source Expert Review Amber was added to AK1. Mode of inheritance for gene AK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Rare anaemia v0.2 | AK1 |
Louise Daugherty gene: AK1 was added gene: AK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: AK1 was set to |
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