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Early onset or syndromic epilepsy v1.191 NDUFS4 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS4.
Early onset or syndromic epilepsy v1.190 NDUFS4 Rebecca Foulger Source NHS GMS was added to NDUFS4.
Early onset or syndromic epilepsy v1.189 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS4 Tracy Lester reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Marked gene: NDUFS4 as ready
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Added comment: Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least three biallelic variants reported in unrelated cases in which seizures are a phenotypic feature.
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Classified gene: NDUFS4 as Green List (high evidence)
Early onset or syndromic epilepsy v0.1483 NDUFS4 Sarah Leigh Gene: ndufs4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1482 NDUFS4 Sarah Leigh Mode of inheritance for gene: NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1481 NDUFS4 Sarah Leigh Publications for gene: NDUFS4 were set to 28371352; 27671926; 27079373; 19107570; 9463323
Early onset or syndromic epilepsy v0.1480 NDUFS4 Sarah Leigh Phenotypes for gene: NDUFS4 were changed from to Leigh syndrome 256000; Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1479 NDUFS4 Sarah Leigh Publications for gene: NDUFS4 were set to
Early onset or syndromic epilepsy NDUFS4 Zornitza Stark reviewed gene: NDUFS4
Early onset or syndromic epilepsy NDUFS4 Sarah Leigh Added gene to panel