13 Apr 2023
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
06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFS1
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFS1
Rebecca Foulger Source NHS GMS was added to NDUFS1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFS1
Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
06 Dec 2018
Early onset or syndromic epilepsy v0.1428
NDUFS1
Eleanor Williams Marked gene: NDUFS1 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1428
NDUFS1
Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
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
06 Dec 2018
Early onset or syndromic epilepsy v0.1426
NDUFS1
Eleanor Williams Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1425
NDUFS1
Eleanor Williams Publications for gene: NDUFS1 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1424
NDUFS1
Eleanor Williams Classified gene: NDUFS1 as Amber List (moderate evidence)
06 Dec 2018
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.
06 Dec 2018
Early onset or syndromic epilepsy v0.1424
NDUFS1
Eleanor Williams Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1423
NDUFS1
Eleanor Williams commented on gene: NDUFS1
17 Aug 2018
Early onset or syndromic epilepsy
NDUFS1
Zornitza Stark reviewed gene: NDUFS1
25 Jun 2018
Early onset or syndromic epilepsy
NDUFS1
Sarah Leigh Added gene to panel