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| Rare anaemia v0.28 | TSR2 | Louise Daugherty commented on gene: TSR2: 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: TSR2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | TSR2 | Steve Keeney reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | TSR2 | Louise Daugherty Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | TSR2 | Louise Daugherty Source North West GLH was added to TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | TSR2 | Louise Daugherty commented on gene: TSR2: 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: TSR2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | TSR2 | Mandy nesbitt reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | TSR2 | Louise Daugherty Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis for gene: TSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | TSR2 | Louise Daugherty Source Yorkshire and North East GLH was added to TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | TSR2 | Louise Daugherty reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | TSR2 | Carl Fratter reviewed gene: TSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | TSR2 | Louise Daugherty Source NHS GMS was added to TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | TSR2 |
Louise Daugherty Source Expert Review Amber was added to TSR2. Mode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 Publications for gene TSR2 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 | TSR2 |
Louise Daugherty gene: TSR2 was added gene: TSR2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TSR2 was set to |
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