06 Aug 2019
Early onset or syndromic epilepsy v1.191
FUCA1
Rebecca Foulger Source Wessex and West Midlands GLH was added to FUCA1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
FUCA1
Rebecca Foulger Source NHS GMS was added to FUCA1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
FUCA1
Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FUCA1
Louise Daugherty Marked gene: FUCA1 as ready
30 Nov 2018
Early onset or syndromic epilepsy v0.1275
FUCA1
Louise Daugherty Gene: fuca1 has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1229
FUCA1
Louise Daugherty Classified gene: FUCA1 as Green List (high evidence)
29 Nov 2018
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.
29 Nov 2018
Early onset or syndromic epilepsy v0.1229
FUCA1
Louise Daugherty Gene: fuca1 has been classified as Green List (High Evidence).
29 Nov 2018
Early onset or syndromic epilepsy v0.1228
FUCA1
Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease association
29 Nov 2018
Early onset or syndromic epilepsy v0.1228
FUCA1
Louise Daugherty Publications for gene: FUCA1 were set to
28 Nov 2018
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
28 Nov 2018
Early onset or syndromic epilepsy v0.1210
FUCA1
Louise Daugherty Phenotypes for gene: FUCA1 were changed from to Fucosidosis, 230000; seizures
28 Nov 2018
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
28 Nov 2018
Early onset or syndromic epilepsy v0.1209
FUCA1
Louise Daugherty Mode of inheritance for gene: FUCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Aug 2018
Early onset or syndromic epilepsy
FUCA1
Zornitza Stark reviewed gene: FUCA1
25 Jun 2018
Early onset or syndromic epilepsy
FUCA1
Sarah Leigh Added gene to panel