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| Cardiomyopathy_Paediatric v0.0 | SOS1 |
Zornitza Stark gene: SOS1 was added gene: SOS1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOS1 were set to 19438935; 17143285; 17143282; 17586837 Phenotypes for gene: SOS1 were set to Noonan syndrome; Noonan syndrome 4; Noonan syndrome 4 610733; syndromic HCM Mode of pathogenicity for gene: SOS1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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