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Growth failure in early childhood v3.50 RAF1 Arina Puzriakova Phenotypes for gene: RAF1 were changed from Rasopathy; Noonan syndrome; LEOPARD syndrome 2; Noonan syndrome 5; LEOPARD syndrome to LEOPARD syndrome 2, OMIM:611554; Noonan syndrome 5, OMIM:611553
Growth failure in early childhood v0.55 RAF1 Ivone Leong Publications for gene: RAF1 were set to
Growth failure in early childhood v0.27 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17603483, 17603482; Phenotypes: Noonan syndrome, Noonan syndrome 5, LEOPARD syndrome, LEOPARD syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Growth failure in early childhood v0.26 RAF1 Rebecca Foulger 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; LEOPARD syndrome; LEOPARD syndrome 2; Noonan syndrome 5 for gene: RAF1
Growth failure in early childhood v0.1 RAF1 Ellen McDonagh gene: RAF1 was added
gene: RAF1 was added to Growth failure in early childhood. Sources: Expert Review Green
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Rasopathy