Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Medulloblastoma v0.29 | EPCAM | Zornitza Stark Marked gene: EPCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Medulloblastoma v0.29 | EPCAM | Zornitza Stark Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Medulloblastoma v0.23 | EPCAM | Chirag Patel Classified gene: EPCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Medulloblastoma v0.23 | EPCAM | Chirag Patel Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |