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Early onset or syndromic epilepsy v1.191 FOLR1 Rebecca Foulger Source Wessex and West Midlands GLH was added to FOLR1.
Early onset or syndromic epilepsy v1.190 FOLR1 Rebecca Foulger Source NHS GMS was added to FOLR1.
Early onset or syndromic epilepsy v1.189 FOLR1 Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22586289; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1275 FOLR1 Louise Daugherty Marked gene: FOLR1 as ready
Early onset or syndromic epilepsy v0.1275 FOLR1 Louise Daugherty Gene: folr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1238 FOLR1 Louise Daugherty Classified gene: FOLR1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1238 FOLR1 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 v0.1238 FOLR1 Louise Daugherty Gene: folr1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1237 FOLR1 Louise Daugherty Added comment: Comment on publications: Added publications to support gene-disease association, and upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1237 FOLR1 Louise Daugherty Publications for gene: FOLR1 were set to
Early onset or syndromic epilepsy v0.1236 FOLR1 Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1236 FOLR1 Louise Daugherty Mode of inheritance for gene: FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1235 FOLR1 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 v0.1235 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068; seizures
Early onset or syndromic epilepsy FOLR1 Zornitza Stark reviewed gene: FOLR1
Early onset or syndromic epilepsy FOLR1 Sarah Leigh Added gene to panel