06 Aug 2019
Early onset or syndromic epilepsy v1.191
FOLR1
Rebecca Foulger Source Wessex and West Midlands GLH was added to FOLR1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
FOLR1
Rebecca Foulger Source NHS GMS was added to FOLR1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
FOLR1
Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FOLR1
Louise Daugherty Marked gene: FOLR1 as ready
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FOLR1
Louise Daugherty Gene: folr1 has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1238
FOLR1
Louise Daugherty Classified gene: FOLR1 as Green List (high evidence)
29 Nov 2018
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.
29 Nov 2018
Early onset or syndromic epilepsy v0.1238
FOLR1
Louise Daugherty Gene: folr1 has been classified as Green List (High Evidence).
29 Nov 2018
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
29 Nov 2018
Early onset or syndromic epilepsy v0.1237
FOLR1
Louise Daugherty Publications for gene: FOLR1 were set to
29 Nov 2018
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
29 Nov 2018
Early onset or syndromic epilepsy v0.1236
FOLR1
Louise Daugherty Mode of inheritance for gene: FOLR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
29 Nov 2018
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
29 Nov 2018
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
13 Aug 2018
Early onset or syndromic epilepsy
FOLR1
Zornitza Stark reviewed gene: FOLR1
25 Jun 2018
Early onset or syndromic epilepsy
FOLR1
Sarah Leigh Added gene to panel