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Growth failure in early childhood v3.43 | NRAS | Arina Puzriakova Phenotypes for gene: NRAS were changed from Noonan syndrome; CFC Syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome 6; Cardio-Facio-cutanenous syndrome to Noonan syndrome 6, OMIM:613224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.51 | NRAS | Ivone Leong Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | NRAS | Rebecca Foulger reviewed gene: NRAS: 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: 19966803, 19775298; Phenotypes: Noonan syndrome, Noonan syndrome 6, Cardio-Facio-cutanenous syndrome, CFC Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.26 | NRAS |
Rebecca Foulger Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments 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; CFC Syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome for gene: NRAS |
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Growth failure in early childhood v0.1 | NRAS |
Ellen McDonagh gene: NRAS was added gene: NRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010 Phenotypes for gene: NRAS were set to A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.) Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments |