| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sarcoma soft tissue v1.0 | Zornitza Stark promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.36 | Zornitza Stark Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.35 | POT1 | Zornitza Stark Marked gene: POT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.35 | POT1 | Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.35 | POT1 | Zornitza Stark Publications for gene: POT1 were set to PMID: 36656928, 37466057 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | WRN | Zornitza Stark Marked gene: WRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | WRN | Zornitza Stark Gene: wrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | TP53 | Zornitza Stark Marked gene: TP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | TP53 | Zornitza Stark Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | SMARCB1 | Zornitza Stark Marked gene: SMARCB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | SMARCB1 | Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | SMARCA4 | Zornitza Stark Marked gene: SMARCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | RB1 | Zornitza Stark Marked gene: RB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | RB1 | Zornitza Stark Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | PMS2 | Zornitza Stark Marked gene: PMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | PMS2 | Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | NF1 | Zornitza Stark Marked gene: NF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | NF1 | Zornitza Stark Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | NBN | Zornitza Stark Marked gene: NBN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | NBN | Zornitza Stark Gene: nbn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MSH6 | Zornitza Stark Marked gene: MSH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MSH6 | Zornitza Stark Gene: msh6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MSH2 | Zornitza Stark Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MSH2 | Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MLH1 | Zornitza Stark Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | MLH1 | Zornitza Stark Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | HRAS | Zornitza Stark Marked gene: HRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | HRAS | Zornitza Stark Gene: hras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | DICER1 | Zornitza Stark Marked gene: DICER1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | DICER1 | Zornitza Stark Gene: dicer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BUB1B | Zornitza Stark Marked gene: BUB1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BUB1B | Zornitza Stark Gene: bub1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BRCA2 | Zornitza Stark Marked gene: BRCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BRCA2 | Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BRCA1 | Zornitza Stark Marked gene: BRCA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | BRCA1 | Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | POT1 | Chirag Patel Classified gene: POT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.34 | POT1 | Chirag Patel Gene: pot1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.33 | POT1 |
Chirag Patel gene: POT1 was added gene: POT1 was added to Sarcoma soft tissue. Sources: Expert Review,Literature Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to PMID: 36656928, 37466057 Phenotypes for gene: POT1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Tumor predisposition syndrome 3, MONDO:0014368; Melanoma, cutaneous malignant, MIM#606478 Review for gene: POT1 was set to AMBER Added comment: Tumor predisposition syndrome-3 (TPDS3) is characterised by an increased risk for the development of various types of benign and malignant neoplasms throughout life, with age-dependent penetrance (e.g. neoplasms involving epithelial, mesenchymal, and neuronal tissues, as well as clonal hematopoietic syndromes, including lymphoid and myeloid cancers). Sources: Expert Review, Literature |
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| Sarcoma soft tissue v0.32 | BUB1B | Chirag Patel Classified gene: BUB1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.32 | BUB1B | Chirag Patel Gene: bub1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.31 | BUB1B |
Chirag Patel gene: BUB1B was added gene: BUB1B was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BUB1B were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mosaic variegated aneuploidy syndrome 1, MONDO:0009759; Mosaic variegated aneuploidy syndrome 1, MIM#257300 Review for gene: BUB1B was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.30 | BRCA1 | Chirag Patel Classified gene: BRCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.30 | BRCA1 | Chirag Patel Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.29 | BRCA2 | Chirag Patel Classified gene: BRCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.29 | BRCA2 | Chirag Patel Gene: brca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.28 | DICER1 | Chirag Patel Classified gene: DICER1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.28 | DICER1 | Chirag Patel Gene: dicer1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.27 | HRAS | Chirag Patel Classified gene: HRAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.27 | HRAS | Chirag Patel Gene: hras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.26 | NF1 | Chirag Patel Classified gene: NF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.26 | NF1 | Chirag Patel Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.25 | RB1 | Chirag Patel Classified gene: RB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.25 | RB1 | Chirag Patel Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.24 | SMARCA4 | Chirag Patel Classified gene: SMARCA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.24 | SMARCA4 | Chirag Patel Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.23 | SMARCB1 | Chirag Patel Classified gene: SMARCB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.23 | SMARCB1 | Chirag Patel Gene: smarcb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.22 | TP53 | Chirag Patel Classified gene: TP53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.22 | TP53 | Chirag Patel Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.21 | TP53 |
Chirag Patel gene: TP53 was added gene: TP53 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP53 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623 Review for gene: TP53 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas 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). Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.20 | SMARCB1 |
Chirag Patel gene: SMARCB1 was added gene: SMARCB1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCB1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322 Review for gene: SMARCB1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.19 | SMARCA4 |
Chirag Patel gene: SMARCA4 was added gene: SMARCA4 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCA4 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325 Review for gene: SMARCA4 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.18 | RB1 |
Chirag Patel gene: RB1 was added gene: RB1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Retinoblastoma, MONDO:0008380; Retinoblastoma, MIM#180200 Review for gene: RB1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.17 | NF1 |
Chirag Patel gene: NF1 was added gene: NF1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200 Review for gene: NF1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Single gene testing may be more appropriate if clinical features of NF1. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.16 | HRAS |
Chirag Patel gene: HRAS was added gene: HRAS was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Costello syndrome, MONDO:0009026; Costello syndrome, MIM#218040 Mode of pathogenicity for gene: HRAS was set to Other Review for gene: HRAS was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. GOF variants. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.15 | DICER1 |
Chirag Patel gene: DICER1 was added gene: DICER1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DICER1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200 Review for gene: DICER1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.14 | BRCA2 |
Chirag Patel gene: BRCA2 was added gene: BRCA2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555 Review for gene: BRCA2 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.13 | BRCA1 |
Chirag Patel gene: BRCA1 was added gene: BRCA1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370 Review for gene: BRCA1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.12 | MLH1 | Chirag Patel Classified gene: MLH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.12 | MLH1 | Chirag Patel Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.11 | MSH2 | Chirag Patel Classified gene: MSH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.11 | MSH2 | Chirag Patel Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.10 | MSH6 | Chirag Patel Classified gene: MSH6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.10 | MSH6 | Chirag Patel Gene: msh6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.9 | NBN | Chirag Patel Classified gene: NBN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.9 | NBN | Chirag Patel Gene: nbn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.8 | PMS2 | Chirag Patel Classified gene: PMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.8 | PMS2 | Chirag Patel Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.7 | WRN | Chirag Patel Classified gene: WRN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.7 | WRN | Chirag Patel Gene: wrn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma soft tissue v0.6 | MLH1 |
Chirag Patel gene: MLH1 was added gene: MLH1 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 1, MONDO:0010159; Mismatch repair cancer syndrome 1, MIM#276300 Review for gene: MLH1 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.5 | MSH2 |
Chirag Patel gene: MSH2 was added gene: MSH2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 2, MONDO:0030840; Mismatch repair cancer syndrome 2, MIM#619096 Review for gene: MSH2 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.4 | MSH6 |
Chirag Patel gene: MSH6 was added gene: MSH6 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 3, MONDO:0030841; Mismatch repair cancer syndrome 3, MIM#619097 Review for gene: MSH6 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.3 | NBN |
Chirag Patel gene: NBN was added gene: NBN was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Nijmegen breakage syndrome, MONDO:0009623; Nijmegen breakage syndrome, MIM#251260 Review for gene: NBN was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.2 | PMS2 |
Chirag Patel gene: PMS2 was added gene: PMS2 was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Mismatch repair cancer syndrome 4, MONDO:0030843; Mismatch repair cancer syndrome 4, MIM#619101 Review for gene: PMS2 was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Note: there is a high level of homology between PMS2 and pseudogenes Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.1 | WRN |
Chirag Patel gene: WRN was added gene: WRN was added to Sarcoma soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Soft tissue sarcoma, MONDO:0018078; Sarcoma, MONDO:0005089; Werner syndrome, MONDO:0010196; Werner syndrome, MIM#277700 Review for gene: WRN was set to GREEN Added comment: ClinGen definitive. Soft-tissue sarcomas reported in condition. Sources: Expert list, Expert Review |
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| Sarcoma soft tissue v0.0 |
Chirag Patel Added Panel Sarcoma soft tissue Set panel types to: Cancer Germline |
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