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Paediatric or syndromic cardiomyopathy v0.16 | SOS1 | Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.15 | SOS1 | Ivone Leong Source NHS GMS was added to SOS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Paediatric or syndromic cardiomyopathy v0.4 | SOS1 |
Ivone Leong Source Expert List was added to SOS1. Mode of pathogenicity for gene SOS1 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 Added phenotypes Noonan syndrome 4 610733 for gene: SOS1 Publications for gene SOS1 were changed from 17586837; 17143285; PMID: 19438935; 17143282 to 19438935; 17143285; 17143282; 17586837 |
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Paediatric or syndromic cardiomyopathy v0.1 | SOS1 |
Ivone Leong gene: SOS1 was added gene: SOS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,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 17586837; 17143285; PMID: 19438935; 17143282 Phenotypes for gene: SOS1 were set to Noonan syndrome 4; syndromic HCM; Noonan syndrome |