Activity
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6 actions
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| Medulloblastoma v0.32 | MSH2 | Zornitza Stark Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.32 | MSH2 | Zornitza Stark Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.21 | MSH2 | Chirag Patel Classified gene: MSH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.21 | MSH2 | Chirag Patel Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.16 | MSH2 |
Chirag Patel gene: MSH2 was added gene: MSH2 was added to Medulloblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096 Review for gene: MSH2 was set to GREEN Added comment: ClinGen definitive. Medulloblastoma reported in condition. Sources: Expert list, Expert Review |
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| Medulloblastoma v0.14 | EPCAM |
Chirag Patel gene: EPCAM was added gene: EPCAM was added to Medulloblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPCAM were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244 Review for gene: EPCAM was set to GREEN Added comment: ClinGen definitive. Medulloblastoma reported in condition. Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. Sources: Expert list, Expert Review |
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