06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFS2
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFS2
Rebecca Foulger Source NHS GMS was added to NDUFS2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFS2
Rebecca Foulger reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
06 Dec 2018
Early onset or syndromic epilepsy v0.1455
NDUFS2
Eleanor Williams Marked gene: NDUFS2 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1455
NDUFS2
Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1455
NDUFS2
Eleanor Williams Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1454
NDUFS2
Eleanor Williams Publications for gene: NDUFS2 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1453
NDUFS2
Eleanor Williams Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1452
NDUFS2
Eleanor Williams Classified gene: NDUFS2 as Amber List (moderate evidence)
06 Dec 2018
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.
06 Dec 2018
Early onset or syndromic epilepsy v0.1452
NDUFS2
Eleanor Williams Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1451
NDUFS2
Eleanor Williams commented on gene: NDUFS2
17 Aug 2018
Early onset or syndromic epilepsy
NDUFS2
Zornitza Stark reviewed gene: NDUFS2
25 Jun 2018
Early onset or syndromic epilepsy
NDUFS2
Sarah Leigh Added gene to panel