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Early onset or syndromic epilepsy v1.191 NDUFV1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFV1.
Early onset or syndromic epilepsy v1.190 NDUFV1 Rebecca Foulger Source NHS GMS was added to NDUFV1.
Early onset or syndromic epilepsy v1.189 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFV1 Tracy Lester reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Marked gene: NDUFV1 as ready
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.
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Classified gene: NDUFV1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Added comment: Comment on list classification: Sufficient variants in unrelated cases displaying seizures.
Early onset or syndromic epilepsy v0.1435 NDUFV1 Sarah Leigh Gene: ndufv1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1434 NDUFV1 Sarah Leigh Mode of inheritance for gene: NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1433 NDUFV1 Sarah Leigh Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1432 NDUFV1 Sarah Leigh Publications for gene: NDUFV1 were set to
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
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark commented on gene: NDUFV1
Early onset or syndromic epilepsy NDUFV1 Zornitza Stark reviewed gene: NDUFV1
Early onset or syndromic epilepsy NDUFV1 Sarah Leigh Added gene to panel