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Early onset or syndromic epilepsy v1.191 FKTN Rebecca Foulger Source Wessex and West Midlands GLH was added to FKTN.
Early onset or syndromic epilepsy v1.190 FKTN Rebecca Foulger Source NHS GMS was added to FKTN.
Early onset or syndromic epilepsy v1.189 FKTN Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FKTN Tracy Lester reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1X 611615, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1275 FKTN Louise Daugherty Marked gene: FKTN as ready
Early onset or syndromic epilepsy v0.1275 FKTN Louise Daugherty Gene: fktn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1250 FKTN Louise Daugherty Classified gene: FKTN as Green List (high evidence)
Early onset or syndromic epilepsy v0.1250 FKTN Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association
Early onset or syndromic epilepsy v0.1250 FKTN Louise Daugherty Gene: fktn has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1249 FKTN Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease association
Early onset or syndromic epilepsy v0.1249 FKTN Louise Daugherty Publications for gene: FKTN were set to 30220444; 9690476
Early onset or syndromic epilepsy v0.1248 FKTN Louise Daugherty Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures; Walker-warburg syndrome or muscle-eye-brain disease; Fukuyama congenital muscular dystrophy
Early onset or syndromic epilepsy v0.1244 FKTN Louise Daugherty Publications for gene: FKTN were set to
Early onset or syndromic epilepsy v0.1240 FKTN Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.1240 FKTN Louise Daugherty Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800; seizures
Early onset or syndromic epilepsy v0.1239 FKTN Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1239 FKTN Louise Daugherty Mode of inheritance for gene: FKTN was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy FKTN Zornitza Stark reviewed gene: FKTN
Early onset or syndromic epilepsy FKTN Sarah Leigh Added gene to panel