06 Aug 2019
Early onset or syndromic epilepsy v1.191
FRRS1L
Rebecca Foulger Source Wessex and West Midlands GLH was added to FRRS1L.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
FRRS1L
Rebecca Foulger Source NHS GMS was added to FRRS1L.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
FRRS1L
Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FRRS1L
Louise Daugherty Marked gene: FRRS1L as ready
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FRRS1L
Louise Daugherty Gene: frrs1l has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1234
FRRS1L
Louise Daugherty Classified gene: FRRS1L as Green List (high evidence)
29 Nov 2018
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.
29 Nov 2018
Early onset or syndromic epilepsy v0.1234
FRRS1L
Louise Daugherty Gene: frrs1l has been classified as Green List (High Evidence).
29 Nov 2018
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
29 Nov 2018
Early onset or syndromic epilepsy v0.1233
FRRS1L
Louise Daugherty Publications for gene: FRRS1L were set to
29 Nov 2018
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
29 Nov 2018
Early onset or syndromic epilepsy v0.1231
FRRS1L
Louise Daugherty Mode of inheritance for gene: FRRS1L was changed from to BIALLELIC, autosomal or pseudoautosomal
29 Nov 2018
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
29 Nov 2018
Early onset or syndromic epilepsy v0.1230
FRRS1L
Louise Daugherty Phenotypes for gene: FRRS1L were changed from to Epileptic encephalopathy, early infantile 37, 616981
14 Aug 2018
Early onset or syndromic epilepsy
FRRS1L
Zornitza Stark reviewed gene: FRRS1L
25 Jun 2018
Early onset or syndromic epilepsy
FRRS1L
Sarah Leigh Added gene to panel