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Early onset or syndromic epilepsy v1.191 NDUFS6 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS6.
Early onset or syndromic epilepsy v1.190 NDUFS6 Rebecca Foulger Source NHS GMS was added to NDUFS6.
Early onset or syndromic epilepsy v1.189 NDUFS6 Rebecca Foulger reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS6 Tracy Lester reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Marked gene: NDUFS6 as ready
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Added comment: Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least two homozygous variants identified in two unrelated cases with abnormal, slowly drifting eye movements, rolling nystagmus, thought to indicate possible seizures, as well as overt seizures occurred on day 1 of life (PMID: 15372108). Other variants reported, but no association with epilepsy, seizures or convulsions could be found.
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1486 NDUFS6 Sarah Leigh Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency 252010
Early onset or syndromic epilepsy v0.1485 NDUFS6 Sarah Leigh Publications for gene: NDUFS6 were set to
Early onset or syndromic epilepsy v0.1484 NDUFS6 Sarah Leigh Mode of inheritance for gene: NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy NDUFS6 Zornitza Stark reviewed gene: NDUFS6
Early onset or syndromic epilepsy NDUFS6 Sarah Leigh Added gene to panel