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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
Early onset or syndromic epilepsy v1.191 NDUFA2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFA2.
Early onset or syndromic epilepsy v1.190 NDUFA2 Rebecca Foulger Source NHS GMS was added to NDUFA2.
Early onset or syndromic epilepsy v1.189 NDUFA2 Rebecca Foulger reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Marked gene: NDUFA2 as ready
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
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.
Early onset or syndromic epilepsy v0.1567 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1566 NDUFA2 Ellen McDonagh Classified gene: NDUFA2 as Amber List (moderate evidence)
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.
Early onset or syndromic epilepsy v0.1566 NDUFA2 Ellen McDonagh Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
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
Early onset or syndromic epilepsy v0.1562 NDUFA2 Ellen McDonagh Mode of inheritance for gene: NDUFA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
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.
Early onset or syndromic epilepsy v0.1561 NDUFA2 Ellen McDonagh Publications for gene: NDUFA2 were set to 28857146; 18513682
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.
Early onset or syndromic epilepsy v0.1555 NDUFA2 Ellen McDonagh Publications for gene: NDUFA2 were set to
Early onset or syndromic epilepsy NDUFA2 Zornitza Stark reviewed gene: NDUFA2
Early onset or syndromic epilepsy NDUFA2 Sarah Leigh Added gene to panel