| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.28 | RPS19 | Louise Daugherty commented on gene: RPS19: 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: RPS19; Suggested initial 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, NOT imprinted; Phenotypes: Inherited Bone Marrow Failure Syndromes;Diamond Blackfan anemia;Diamond-Blackfan Anemia;Diamond-Blackfan anemia 1, 105650;Diamond_Blackfan Anemia;DIAMOND-BLACKFAN ANEMIA 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | RPS19 | Steve Keeney reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Diamond Blackfan anemia, Diamond-Blackfan Anemia, Diamond-Blackfan anemia 1, 105650, Diamond-Blackfan Anemia, DIAMOND-BLACKFAN ANEMIA 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | RPS19 | Louise Daugherty Added phenotypes Diamond-Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 1; Diamond Blackfan anemia for gene: RPS19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | RPS19 | Louise Daugherty Source North West GLH was added to RPS19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | RPS19 | Louise Daugherty commented on gene: RPS19: 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: RPS19; 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: 105650 Diamond_Blackfan Anemia 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | RPS19 | Mandy nesbitt reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 105650 Diamond_Blackfan Anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | RPS19 | Louise Daugherty Added phenotypes 105650 Diamond_Blackfan Anemia 1 for gene: RPS19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | RPS19 | Louise Daugherty Source Yorkshire and North East GLH was added to RPS19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | RPS19 | Louise Daugherty commented on gene: RPS19: 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: RPS19; 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: 105650 Diamond-Blackfan anemia 1; PMID(s): 9988267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | RPS19 | Frances Smith reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: 9988267; Phenotypes: 105650 Diamond-Blackfan anemia 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | RPS19 |
Louise Daugherty Added phenotypes 105650 Diamond-Blackfan anemia 1 for gene: RPS19 Publications for gene RPS19 were changed from 25946618; 24675553; 15384984; 9988267 to 9988267 |
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| Rare anaemia v0.7 | RPS19 | Louise Daugherty Source London South GLH was added to RPS19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | RPS19 | Louise Daugherty reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | RPS19 | Carl Fratter reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | RPS19 | Louise Daugherty Source NHS GMS was added to RPS19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | RPS19 |
Louise Daugherty Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Diamond_Blackfan Anemia; Diamond-Blackfan anemia 1, 105650; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan Anemia; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia for gene: RPS19 Publications for gene RPS19 were changed from to 25946618; 24675553; 15384984; 9988267 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | RPS19 |
Louise Daugherty gene: RPS19 was added gene: RPS19 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS19 was set to |
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