Activity
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| Rare anaemia v0.17 | RPS28 | Louise Daugherty commented on gene: RPS28: 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: RPS28; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | RPS28 | Mandy nesbitt reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | RPS28 | Louise Daugherty Added phenotypes 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis for gene: RPS28 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | RPS28 | Louise Daugherty Source Yorkshire and North East GLH was added to RPS28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | RPS28 | Louise Daugherty reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | RPS28 | Carl Fratter reviewed gene: RPS28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | RPS28 | Louise Daugherty Source NHS GMS was added to RPS28. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | RPS28 |
Louise Daugherty Source Expert Review Amber was added to RPS28. Mode of inheritance for gene RPS28 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 for gene: RPS28 Publications for gene RPS28 were changed from to 24942156; 20301769 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Rare anaemia v0.2 | RPS28 |
Louise Daugherty gene: RPS28 was added gene: RPS28 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPS28 was set to |
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