03 Aug 2020
Early onset or syndromic epilepsy v2.131
NDUFA2
Arina Puzriakova reviewed gene: NDUFA2: Rating: ; Mode of pathogenicity: None; Publications: 18513682, 28857146, 32154054; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFA2
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA2.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFA2
Rebecca Foulger Source NHS GMS was added to NDUFA2.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFA2
Rebecca Foulger reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFA2
Tracy Lester reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 18513682; Phenotypes: ?Mitochondrial complex I deficiency nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
11 Dec 2018
Early onset or syndromic epilepsy v0.1567
NDUFA2
Ellen McDonagh Marked gene: NDUFA2 as ready
11 Dec 2018
Early onset or syndromic epilepsy v0.1567
NDUFA2
Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
11 Dec 2018
Early onset or syndromic epilepsy v0.1567
NDUFA2
Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
11 Dec 2018
Early onset or syndromic epilepsy v0.1567
NDUFA2
Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel.
11 Dec 2018
Early onset or syndromic epilepsy v0.1567
NDUFA2
Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
11 Dec 2018
Early onset or syndromic epilepsy v0.1566
NDUFA2
Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
11 Dec 2018
Early onset or syndromic epilepsy v0.1566
NDUFA2
Ellen McDonagh Added comment: Comment on list classification: Keep as amber for now on this panel, as it is unclear whether variants in this gene directly cause epilepsy/seizures. This gene is Green on the Mitochondrial panel Version 1.75, which would be applied to all patients who receive the epilepsy panel.
11 Dec 2018
Early onset or syndromic epilepsy v0.1566
NDUFA2
Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
11 Dec 2018
Early onset or syndromic epilepsy v0.1563
NDUFA2
Ellen McDonagh Phenotypes for gene: NDUFA2 were changed from to Leigh syndrome due to mitochondrial complex I deficiency 256000
11 Dec 2018
Early onset or syndromic epilepsy v0.1562
NDUFA2
Ellen McDonagh Mode of inheritance for gene: NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
11 Dec 2018
Early onset or syndromic epilepsy v0.1561
NDUFA2
Ellen McDonagh Added comment: Comment on publications: PMID: 28857146 - unclear whether either of the genotyped cases displayed seizures/epilepsy.
11 Dec 2018
Early onset or syndromic epilepsy v0.1561
NDUFA2
Ellen McDonagh Publications for gene: NDUFA2 were set to 28857146; 18513682
11 Dec 2018
Early onset or syndromic epilepsy v0.1555
NDUFA2
Ellen McDonagh Added comment: Comment on publications: PMID: 18513682 - the case reported developed seizures after a varicella infection, with severe acidosis.
11 Dec 2018
Early onset or syndromic epilepsy v0.1555
NDUFA2
Ellen McDonagh Publications for gene: NDUFA2 were set to
17 Aug 2018
Early onset or syndromic epilepsy
NDUFA2
Zornitza Stark reviewed gene: NDUFA2
25 Jun 2018
Early onset or syndromic epilepsy
NDUFA2
Sarah Leigh Added gene to panel