Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Genetic Epilepsy v0.288 FKRP Zornitza Stark Marked gene: FKRP as ready
Genetic Epilepsy v0.288 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.288 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.287 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153
Genetic Epilepsy v0.286 FKRP Zornitza Stark Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.285 FKRP Zornitza Stark Classified gene: FKRP as Amber List (moderate evidence)
Genetic Epilepsy v0.285 FKRP Zornitza Stark Gene: fkrp has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.284 FKRP Zornitza Stark reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKRP was set to Unknown