| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.59 | NRAS | Zornitza Stark Marked gene: NRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.59 | NRAS | Zornitza Stark Gene: nras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.59 | NRAS | Zornitza Stark Phenotypes for gene: NRAS were changed from Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6 to Noonan syndrome 6, MIM# 613224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.58 | NRAS | Zornitza Stark Publications for gene: NRAS were set to 19966803; 19775298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.57 | NRAS | Zornitza Stark changed review comment from: Over 20 affected individuals reported, well established gene-disease association.; to: Over 20 affected individuals reported, well established gene-disease association. Short stature is a key feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.0 | NRAS |
Zornitza Stark gene: NRAS was added gene: NRAS was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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 19966803; 19775298 Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome; CFC Syndrome; Noonan syndrome 6 Mode of pathogenicity for gene: NRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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