Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Marked gene: RAF1 as ready
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Gene: raf1 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.108 RAF1 Zornitza Stark Phenotypes for gene: RAF1 were changed from Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan syndrome to Cardiomyopathy, dilated, 1NN, MIM# 615916; Noonan syndrome 5, MIM# 611553
Cardiomyopathy_Paediatric v0.107 RAF1 Zornitza Stark Publications for gene: RAF1 were set to 17603482; 17603483
Cardiomyopathy_Paediatric v0.106 RAF1 Zornitza Stark reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24777450; Phenotypes: Cardiomyopathy, dilated, 1NN, MIM# 615916, Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy_Paediatric v0.0 RAF1 Zornitza Stark gene: RAF1 was added
gene: RAF1 was added to Cardiomyopathy_Paediatric. Sources: London South GLH,Expert List,Expert Review Green,NHS GMS,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 17603482; 17603483
Phenotypes for gene: RAF1 were set to Noonan syndrome 5; Noonan syndrome 5 611553; LEOPARD syndrome 2 611554; syndromic HCM; LEOPARD syndrome 2; LEOPARD syndrome; Noonan 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