Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Early onset or syndromic epilepsy v4.10 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, 252010; LEIGH SYNDROME; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Early onset or syndromic epilepsy v1.191 NDUFS1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS1.
Early onset or syndromic epilepsy v1.190 NDUFS1 Rebecca Foulger Source NHS GMS was added to NDUFS1.
Early onset or syndromic epilepsy v1.189 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS1 Tracy Lester reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 11349233; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1428 NDUFS1 Eleanor Williams Marked gene: NDUFS1 as ready
Early onset or syndromic epilepsy v0.1428 NDUFS1 Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1427 NDUFS1 Eleanor Williams Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, 252010; LEIGH SYNDROME; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
Early onset or syndromic epilepsy v0.1426 NDUFS1 Eleanor Williams Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1425 NDUFS1 Eleanor Williams Publications for gene: NDUFS1 were set to
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Classified gene: NDUFS1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Added comment: Comment on list classification: Keeping this gene amber on this panel, because although there are enough cases to associate the gene with the disease possible epilepsy/seizures have only been observed in 2 cases.
Early onset or syndromic epilepsy v0.1424 NDUFS1 Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1423 NDUFS1 Eleanor Williams commented on gene: NDUFS1
Early onset or syndromic epilepsy NDUFS1 Zornitza Stark reviewed gene: NDUFS1
Early onset or syndromic epilepsy NDUFS1 Sarah Leigh Added gene to panel