| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Medulloblastoma v0.35 | TP53 | Zornitza Stark Marked gene: TP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.35 | TP53 | Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.35 | TP53 | Zornitza Stark Phenotypes for gene: TP53 were changed from to Medulloblastoma, MONDO:0007959; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.25 | TP53 |
Chirag Patel changed review comment from: ClinGen definitive. Medulloblastoma reported in condition. Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522).; to: ClinGen definitive. Medulloblastoma reported in condition. Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522). |
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| Medulloblastoma v0.25 | TP53 |
Chirag Patel changed review comment from: ClinGen definitive. Medulloblastoma reported in condition.; to: ClinGen definitive. Medulloblastoma reported in condition. Consider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522). |
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| Medulloblastoma v0.12 | TP53 | Chirag Patel reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medulloblastoma, MONDO:0007959, Li-Fraumeni syndrome, MONDO:0018875, Li-Fraumeni syndrome, MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.0 | TP53 |
Zornitza Stark gene: TP53 was added gene: TP53 was added to Medulloblastoma. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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