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Early onset or syndromic epilepsy v1.191 NARS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NARS2.
Early onset or syndromic epilepsy v1.190 NARS2 Rebecca Foulger Source NHS GMS was added to NARS2.
Early onset or syndromic epilepsy v1.189 NARS2 Rebecca Foulger reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1379 NARS2 Louise Daugherty Marked gene: NARS2 as ready
Early onset or syndromic epilepsy v0.1379 NARS2 Louise Daugherty Gene: nars2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1379 NARS2 Louise Daugherty Classified gene: NARS2 as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.1379 NARS2 Louise Daugherty Gene: nars2 has been classified as Green List (High Evidence).
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
Early onset or syndromic epilepsy v0.1378 NARS2 Louise Daugherty Publications for gene: NARS2 were set to
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
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
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: added MOI from review
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
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from external reviewer comment
Early onset or syndromic epilepsy v0.501 NARS2 Louise Daugherty Mode of inheritance for gene: NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy NARS2 Zornitza Stark reviewed gene: NARS2
Early onset or syndromic epilepsy NARS2 Sarah Leigh Added gene to panel