| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Paraganglioma_phaeochromocytoma v0.30 | RET | Zornitza Stark Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.30 | RET | Zornitza Stark Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.21 | RET | Chirag Patel Classified gene: RET as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.21 | RET | Chirag Patel Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paraganglioma_phaeochromocytoma v0.20 | RET |
Chirag Patel gene: RET was added gene: RET was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Multiple endocrine neoplasia type 2A, MONDO:0008234; Multiple endocrine neoplasia type 2B, MONDO:0008082; Multiple endocrine neoplasia, type 2A, MIM#171400; Multiple endocrine neoplasia, type 2B, MIM#162300; Pheochromocytoma, MIM#171300; Medullary thyroid carcinoma, MIM#155240; Pheochromocytoma, susceptibility to, MIM#171300 Mode of pathogenicity for gene: RET was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RET was set to GREEN Added comment: ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition. GOF variants. Sources: Expert list, Expert Review |
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