Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Growth failure v0.68 | RAF1 | Zornitza Stark Marked gene: RAF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.68 | RAF1 | Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.68 | RAF1 | Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome to Noonan syndrome 5, MIM# 611553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.67 | RAF1 | Zornitza Stark Publications for gene: RAF1 were set to 17603483; 17603482 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.66 | RAF1 | Zornitza Stark changed review comment from: Over 20 affected individuals reported.; to: Over 20 affected individuals reported. Short stature is a key feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAF1 were set to 17603483; 17603482 Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome; LEOPARD syndrome 2; Rasopathy; LEOPARD syndrome Mode of pathogenicity for gene: RAF1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |