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Early onset or syndromic epilepsy v1.191 NDUFS2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS2.
Early onset or syndromic epilepsy v1.190 NDUFS2 Rebecca Foulger Source NHS GMS was added to NDUFS2.
Early onset or syndromic epilepsy v1.189 NDUFS2 Rebecca Foulger reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS2 Tracy Lester reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Marked gene: NDUFS2 as ready
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1455 NDUFS2 Eleanor Williams Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1454 NDUFS2 Eleanor Williams Publications for gene: NDUFS2 were set to
Early onset or syndromic epilepsy v0.1453 NDUFS2 Eleanor Williams Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Classified gene: NDUFS2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Added comment: Comment on list classification: Keep as Amber. Although there are sufficient cases to associate this gene with Mitochondrial complex I deficiency there is only 1 report of a patient with seizures.
Early onset or syndromic epilepsy v0.1452 NDUFS2 Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1451 NDUFS2 Eleanor Williams commented on gene: NDUFS2
Early onset or syndromic epilepsy NDUFS2 Zornitza Stark reviewed gene: NDUFS2
Early onset or syndromic epilepsy NDUFS2 Sarah Leigh Added gene to panel