| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Medulloblastoma v0.32 | PMS2 | Zornitza Stark Marked gene: PMS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.32 | PMS2 | Zornitza Stark Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.19 | PMS2 | Chirag Patel Classified gene: PMS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.19 | PMS2 | Chirag Patel Gene: pms2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medulloblastoma v0.18 | PMS2 |
Chirag Patel gene: PMS2 was added gene: PMS2 was added to Medulloblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101 Review for gene: PMS2 was set to GREEN Added comment: ClinGen definitive. Medulloblastoma reported in condition. Note: there is a high level of homology between PMS2 and pseudogenes. Sources: Expert list, Expert Review |
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