| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Incidentalome v0.219 | WNK2 | Alison Yeung Marked gene: WNK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.219 | WNK2 | Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.219 | WNK2 | Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.219 | WNK2 | Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.218 | WNK2 | Alison Yeung Classified gene: WNK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.218 | WNK2 | Alison Yeung Gene: wnk2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.217 | WNK2 |
Melanie Marty gene: WNK2 was added gene: WNK2 was added to Incidentalome. Sources: Literature Mode of inheritance for gene: WNK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WNK2 were set to PMID: 36270769 Phenotypes for gene: WNK2 were set to Serrated polyposis syndrome Review for gene: WNK2 was set to AMBER Added comment: Germline variants identified in 15 patients (14 missense, 1 fs) diagnosed with serrated polyposis syndrome. Limited segregation studies in 2 families (1 sibling in each family). Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway. Sources: Literature |
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