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| Haematological malignancies cancer susceptibility v2.23 | TSR2 | Arina Puzriakova Tag for-review was removed from gene: TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | TSR2 | Arina Puzriakova commented on gene: TSR2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.22 | TSR2 |
Arina Puzriakova Source NHS GMS was added to TSR2. Source Expert Review Red was added to TSR2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova changed review comment from: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red.; to: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined. This indicates that there is NOT sufficient evidence for a Green rating and this gene should be downgraded to Amber/Red - will be flagged for review at the next GMS panel update (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova Tag for-review tag was added to gene: TSR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova changed review comment from: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red/Amber.; to: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | TSR2 | Arina Puzriakova Phenotypes for gene: TSR2 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML, Leukemia risk not well defined; Osteosarcoma, soft tissue sarcomas to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Classified gene: TSR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Added comment: Comment on list classification: Currently only one family reported (PMID:24942156) and leukemia risk not well defined - therefore recommending a rating downgrade from Green to Red/Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.4 | TSR2 | Arina Puzriakova Gene: tsr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.3 | TSR2 | Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility | TSR2 | Clare Turnbull reviewed TSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||