06 Aug 2019
Early onset or syndromic epilepsy v1.191
NARS2
Rebecca Foulger Source Wessex and West Midlands GLH was added to NARS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NARS2
Rebecca Foulger Source NHS GMS was added to NARS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NARS2
Rebecca Foulger reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NARS2
Tracy Lester reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25385316, 25807530, 30327238 ; Phenotypes: Combined oxidative phosphorylation deficiency, 616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Dec 2018
Early onset or syndromic epilepsy v0.1379
NARS2
Louise Daugherty Marked gene: NARS2 as ready
04 Dec 2018
Early onset or syndromic epilepsy v0.1379
NARS2
Louise Daugherty Gene: nars2 has been classified as Green List (High Evidence).
04 Dec 2018
Early onset or syndromic epilepsy v0.1379
NARS2
Louise Daugherty Classified gene: NARS2 as Green List (high evidence)
04 Dec 2018
Early onset or syndromic epilepsy v0.1379
NARS2
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.
04 Dec 2018
Early onset or syndromic epilepsy v0.1379
NARS2
Louise Daugherty Gene: nars2 has been classified as Green List (High Evidence).
04 Dec 2018
Early onset or syndromic epilepsy v0.1378
NARS2
Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
04 Dec 2018
Early onset or syndromic epilepsy v0.1378
NARS2
Louise Daugherty Publications for gene: NARS2 were set to
04 Dec 2018
Early onset or syndromic epilepsy v0.1372
NARS2
Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
04 Dec 2018
Early onset or syndromic epilepsy v0.1372
NARS2
Louise Daugherty Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24, 616239; seizures
01 Oct 2018
Early onset or syndromic epilepsy v0.501
NARS2
Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
01 Oct 2018
Early onset or syndromic epilepsy v0.501
NARS2
Louise Daugherty Mode of inheritance for gene: NARS2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
01 Oct 2018
Early onset or syndromic epilepsy v0.501
NARS2
Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external reviewer comment
01 Oct 2018
Early onset or syndromic epilepsy v0.501
NARS2
Louise Daugherty Mode of inheritance for gene: NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2018
Early onset or syndromic epilepsy
NARS2
Zornitza Stark reviewed gene: NARS2
25 Jun 2018
Early onset or syndromic epilepsy
NARS2
Sarah Leigh Added gene to panel