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| Sarcoma susceptibility v1.40 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v1.39 | KIT | Arina Puzriakova Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.5 | KIT | Rebecca Foulger Source NHS GMS was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Sarcoma susceptibility v0.0 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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