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Early onset or syndromic epilepsy v1.191 FRRS1L Rebecca Foulger Source Wessex and West Midlands GLH was added to FRRS1L.
Early onset or syndromic epilepsy v1.190 FRRS1L Rebecca Foulger Source NHS GMS was added to FRRS1L.
Early onset or syndromic epilepsy v1.189 FRRS1L Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FRRS1L Tracy Lester reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 27236917; Phenotypes: Epileptic encephalopathy, early infantile, 616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1275 FRRS1L Louise Daugherty Marked gene: FRRS1L as ready
Early onset or syndromic epilepsy v0.1275 FRRS1L Louise Daugherty Gene: frrs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1234 FRRS1L Louise Daugherty Classified gene: FRRS1L as Green List (high evidence)
Early onset or syndromic epilepsy v0.1234 FRRS1L 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 v0.1234 FRRS1L Louise Daugherty Gene: frrs1l has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1233 FRRS1L Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.1233 FRRS1L Louise Daugherty Publications for gene: FRRS1L were set to
Early onset or syndromic epilepsy v0.1231 FRRS1L Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1231 FRRS1L Louise Daugherty Mode of inheritance for gene: FRRS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1230 FRRS1L 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 v0.1230 FRRS1L Louise Daugherty Phenotypes for gene: FRRS1L were changed from to Epileptic encephalopathy, early infantile 37, 616981
Early onset or syndromic epilepsy FRRS1L Zornitza Stark reviewed gene: FRRS1L
Early onset or syndromic epilepsy FRRS1L Sarah Leigh Added gene to panel