Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Marked gene: FAH as ready
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v1.235 FAH Zornitza Stark Phenotypes for gene: FAH were changed from HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I to Tyrosinaemia, type I, MIM# 276700
Cardiomyopathy_Paediatric v1.234 FAH Zornitza Stark reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24016420; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v1.0 FAH Gene migrated from ENSG00000103876 to ENSG00000103876 (gene set migration)
Cardiomyopathy_Paediatric v0.134 FAH Zornitza Stark Tag treatable tag was added to gene: FAH.
Cardiomyopathy_Paediatric v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 27604308
Phenotypes for gene: FAH were set to HCM; Tyrosinaemia type 1 (fumarylactoacetase deficiency); Liver failure, vomiting, renal tubulopathy; Tyrosinemia, type I