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Early onset or syndromic epilepsy v1.191 FUCA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to FUCA1.
Early onset or syndromic epilepsy v1.190 FUCA1 Rebecca Foulger Source NHS GMS was added to FUCA1.
Early onset or syndromic epilepsy v1.189 FUCA1 Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 FUCA1 Tracy Lester reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27706744; Phenotypes: Fucosidosis, 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1275 FUCA1 Louise Daugherty Marked gene: FUCA1 as ready
Early onset or syndromic epilepsy v0.1275 FUCA1 Louise Daugherty Gene: fuca1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1229 FUCA1 Louise Daugherty Classified gene: FUCA1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1229 FUCA1 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 v0.1229 FUCA1 Louise Daugherty Gene: fuca1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1228 FUCA1 Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease association
Early onset or syndromic epilepsy v0.1228 FUCA1 Louise Daugherty Publications for gene: FUCA1 were set to
Early onset or syndromic epilepsy v0.1210 FUCA1 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 v0.1210 FUCA1 Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000; seizures
Early onset or syndromic epilepsy v0.1209 FUCA1 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.1209 FUCA1 Louise Daugherty Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy FUCA1 Zornitza Stark reviewed gene: FUCA1
Early onset or syndromic epilepsy FUCA1 Sarah Leigh Added gene to panel