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Early onset or syndromic epilepsy v1.191 NDUFAF3 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFAF3.
Early onset or syndromic epilepsy v1.190 NDUFAF3 Rebecca Foulger Source NHS GMS was added to NDUFAF3.
Early onset or syndromic epilepsy v1.189 NDUFAF3 Rebecca Foulger reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFAF3 Tracy Lester reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency nuclear type 18, 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Marked gene: NDUFAF3 as ready
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1417 NDUFAF3 Eleanor Williams Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1416 NDUFAF3 Eleanor Williams Publications for gene: NDUFAF3 were set to
Early onset or syndromic epilepsy v0.1415 NDUFAF3 Eleanor Williams Mode of inheritance for gene: NDUFAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Classified gene: NDUFAF3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Added comment: Comment on list classification: There are 3 cases supporting the association of NDUFAF3 with Mitochondrial complex I deficiency, but only two cases with seizures to date so keeping this gene Amber until further cases verify the association with seizures.
Early onset or syndromic epilepsy v0.1414 NDUFAF3 Eleanor Williams Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1413 NDUFAF3 Eleanor Williams commented on gene: NDUFAF3
Early onset or syndromic epilepsy NDUFAF3 Zornitza Stark reviewed gene: NDUFAF3
Early onset or syndromic epilepsy NDUFAF3 Sarah Leigh Added gene to panel