| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.45 | EPCAM | Zornitza Stark Marked gene: EPCAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.45 | EPCAM | Zornitza Stark Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.45 | EPCAM | Zornitza Stark Classified gene: EPCAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.45 | EPCAM | Zornitza Stark Gene: epcam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.44 | EPCAM |
Zornitza Stark gene: EPCAM was added gene: EPCAM was added to Additional findings_Adult. Sources: Expert list SV/CNV tags were added to gene: EPCAM. Mode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EPCAM were set to Lynch syndrome 8, MONDO:0013196 Mode of pathogenicity for gene: EPCAM was set to Other Review for gene: EPCAM was set to GREEN Added comment: DEFINITIVE actionability by ClinGen in adults. Deletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. Sources: Expert list |
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