| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v0.66 | RPS17 | Louise Daugherty Classified gene: RPS17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.66 | RPS17 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.66 | RPS17 | Louise Daugherty Gene: rps17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | RPS17 | Louise Daugherty commented on gene: RPS17: 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: RPS17; 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, imprinted status unknown; Phenotypes: Diamond-Blackfan anemia 4 612527; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | RPS17 | Steve Keeney reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Diamond-Blackfan anemia 4, 612527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | RPS17 | Louise Daugherty Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | RPS17 | Louise Daugherty Source North West GLH was added to RPS17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | RPS17 | Louise Daugherty commented on gene: RPS17: 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: RPS17; 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: 612527 Diamond-Blackfan anemia 4; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | RPS17 | Mandy nesbitt reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612527 Diamond-Blackfan anemia 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | RPS17 | Louise Daugherty Added phenotypes 612527 Diamond-Blackfan anemia 4 for gene: RPS17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | RPS17 | Louise Daugherty Source Yorkshire and North East GLH was added to RPS17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | RPS17 | Louise Daugherty reviewed gene: RPS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | RPS17 | Carl Fratter reviewed gene: RPS17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | RPS17 | Louise Daugherty Source NHS GMS was added to RPS17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | RPS17 |
Louise Daugherty Source Expert Review Green was added to RPS17. Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17 Publications for gene RPS17 were changed from to 22045982; 19953637; 17647292; 19061985 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | RPS17 |
Louise Daugherty gene: RPS17 was added gene: RPS17 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS17 was set to |
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