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| Paediatric or syndromic cardiomyopathy v0.16 | RAF1 | Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.15 | RAF1 | Ivone Leong Source NHS GMS was added to RAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric or syndromic cardiomyopathy v0.4 | RAF1 |
Ivone Leong Source Expert List was added to RAF1. Mode of pathogenicity for gene RAF1 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 5 611553; LEOPARD syndrome 2 611554 for gene: RAF1 Publications for gene RAF1 were changed from PMID: 17603483; 17603482 to 17603483; 17603482 |
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| Paediatric or syndromic cardiomyopathy v0.1 | RAF1 |
Ivone Leong gene: RAF1 was added gene: RAF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to PMID: 17603483; 17603482 Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome 5; syndromic HCM; LEOPARD syndrome; LEOPARD syndrome 2 |
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