06 Aug 2019
Early onset or syndromic epilepsy v1.191
NDUFAF5
Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFAF5.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
NDUFAF5
Rebecca Foulger Source NHS GMS was added to NDUFAF5.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
NDUFAF5
Rebecca Foulger reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
NDUFAF5
Tracy Lester reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Dec 2018
Early onset or syndromic epilepsy v0.1422
NDUFAF5
Eleanor Williams Marked gene: NDUFAF5 as ready
06 Dec 2018
Early onset or syndromic epilepsy v0.1422
NDUFAF5
Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
06 Dec 2018
Early onset or syndromic epilepsy v0.1421
NDUFAF5
Eleanor Williams Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex 1 deficiency 252010
06 Dec 2018
Early onset or syndromic epilepsy v0.1420
NDUFAF5
Eleanor Williams Publications for gene: NDUFAF5 were set to
06 Dec 2018
Early onset or syndromic epilepsy v0.1419
NDUFAF5
Eleanor Williams Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
06 Dec 2018
Early onset or syndromic epilepsy v0.1418
NDUFAF5
Eleanor Williams Classified gene: NDUFAF5 as Green List (high evidence)
06 Dec 2018
Early onset or syndromic epilepsy v0.1418
NDUFAF5
Eleanor Williams Added comment: Comment on list classification: Variants in this gene reported in more than 3 families with affected individuals. Seizures seen in 5 families.
06 Dec 2018
Early onset or syndromic epilepsy v0.1418
NDUFAF5
Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
05 Dec 2018
Early onset or syndromic epilepsy v0.1417
NDUFAF5
Eleanor Williams commented on gene: NDUFAF5
17 Aug 2018
Early onset or syndromic epilepsy
NDUFAF5
Zornitza Stark reviewed gene: NDUFAF5
25 Jun 2018
Early onset or syndromic epilepsy
NDUFAF5
Sarah Leigh Added gene to panel