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Early onset or syndromic epilepsy v1.376 NDUFS7 Rebecca Foulger Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3, 618224
Early onset or syndromic epilepsy v1.191 NDUFS7 Rebecca Foulger Source Wessex and West Midlands GLH was added to NDUFS7.
Early onset or syndromic epilepsy v1.190 NDUFS7 Rebecca Foulger Source NHS GMS was added to NDUFS7.
Early onset or syndromic epilepsy v1.189 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS7 Tracy Lester reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1550 NDUFS8 Ellen McDonagh commented on gene: NDUFS8: Comment on publications: PMID: 22499348 - of three patients (2 related) reported with homozygous or compound heterozygous variants in this gene, one was reported with epilepsy with a clinical diagnosis of Leigh syndrome...this patient also had a homozygous variant in NDUFS7, however the variant in NDUFS8 was attributed to the disease as their affected sister also carried this homozygous variant. She had a clinical diagnosis of Leigh syndrome, decribed with Muscular hypotonia, lactic acidosis blood and CSF, MRI lesions basal ganglia and brainstem, hypertrophic cardiomyopathy (seizures or epilepsy were not mentioned). In the other unrelated case, a clinical diagnosis of mitochondrial encephalopathy and hypertrophic cardiomyopathy was given, with Muscular hypotonia, respiratory insufficiency as other features.
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Marked gene: NDUFS7 as ready
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Gene: ndufs7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Tag watchlist tag was added to gene: NDUFS7.
Early onset or syndromic epilepsy v0.1535 NDUFS7 Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1534 NDUFS7 Ellen McDonagh Mode of inheritance for gene: NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.1533 NDUFS7 Ellen McDonagh Publications for gene: NDUFS7 were set to
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7: Though variants in this gene cause Leigh syndrome, there does not seem to be enough evidence for variants in this gene to be directly attributed to seizures/epilepsy from these publications.
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7: PMID: 10330338 - seizures not mentioned in the patients reported with NDUFS7.
Early onset or syndromic epilepsy v0.1532 NDUFS7 Ellen McDonagh commented on gene: NDUFS7
Early onset or syndromic epilepsy NDUFS7 Zornitza Stark reviewed gene: NDUFS7
Early onset or syndromic epilepsy NDUFS7 Sarah Leigh Added gene to panel