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| Paediatric or syndromic cardiomyopathy v0.16 | RIT1 | Ivone Leong reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | RIT1 | Ivone Leong Source NHS GMS was added to RIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | RIT1 |
Ivone Leong Source Expert List was added to RIT1. Mode of pathogenicity for gene RIT1 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 8 615355 for gene: RIT1 Publications for gene RIT1 were changed from 24939608; PMID: 23791108; 25124994 to 25124994; 23791108; 24939608 |
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| Paediatric or syndromic cardiomyopathy v0.1 | RIT1 |
Ivone Leong gene: RIT1 was added gene: RIT1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RIT1 were set to 24939608; PMID: 23791108; 25124994 Phenotypes for gene: RIT1 were set to Noonan syndrome 8; Noonan syndrome type 8 |
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