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Early onset or syndromic epilepsy v1.191 NDUFAF5 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFAF5.
Early onset or syndromic epilepsy v1.190 NDUFAF5 Rebecca Foulger Source NHS GMS was added to NDUFAF5.
Early onset or syndromic epilepsy v1.189 NDUFAF5 Rebecca Foulger reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFAF5 Tracy Lester reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1422 NDUFAF5 Eleanor Williams Marked gene: NDUFAF5 as ready
Early onset or syndromic epilepsy v0.1422 NDUFAF5 Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1421 NDUFAF5 Eleanor Williams Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex 1 deficiency 252010
Early onset or syndromic epilepsy v0.1420 NDUFAF5 Eleanor Williams Publications for gene: NDUFAF5 were set to
Early onset or syndromic epilepsy v0.1419 NDUFAF5 Eleanor Williams Mode of inheritance for gene: NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1418 NDUFAF5 Eleanor Williams Classified gene: NDUFAF5 as Green List (high evidence)
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.
Early onset or syndromic epilepsy v0.1418 NDUFAF5 Eleanor Williams Gene: ndufaf5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1417 NDUFAF5 Eleanor Williams commented on gene: NDUFAF5
Early onset or syndromic epilepsy NDUFAF5 Zornitza Stark reviewed gene: NDUFAF5
Early onset or syndromic epilepsy NDUFAF5 Sarah Leigh Added gene to panel