06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFV1
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFV1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFV1
Rebecca Foulger Source NHS GMS was added to NDUFV1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFV1
Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFV1
Tracy Lester reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Marked gene: NDUFV1 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least six variants reported in at least three unrelated cases in which seizures are a phenotypic feature.
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Classified gene: NDUFV1 as Green List (high evidence)
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Added comment: Comment on list classification: Sufficient variants in unrelated cases displaying seizures.
06 Dec 2018
Early onset or syndromic epilepsy v0.1435
NDUFV1
Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1434
NDUFV1
Sarah Leigh Mode of inheritance for gene: NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1433
NDUFV1
Sarah Leigh Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1432
NDUFV1
Sarah Leigh Publications for gene: NDUFV1 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1431
NDUFV1
Eleanor Williams reviewed gene: NDUFV1: Rating: ; Mode of pathogenicity: None; Publications: 25615419; Phenotypes: ; Mode of inheritance: None
17 Aug 2018
Early onset or syndromic epilepsy
NDUFV1
Zornitza Stark commented on gene: NDUFV1
17 Aug 2018
Early onset or syndromic epilepsy
NDUFV1
Zornitza Stark reviewed gene: NDUFV1
25 Jun 2018
Early onset or syndromic epilepsy
NDUFV1
Sarah Leigh Added gene to panel