Mitochondrial disease
Gene: NDUFS6
Generally severe neonatal presentation
PMID 15372108: 2 unrelated families with homozygous variants and mitochondrial disorder reported with supportive functional evidence from patient-derived fibroblasts. Limited phenotypic information.
PMID 19259137: describe four infants from two unrelated families of Jewish Caucasus origin with fatal neonatal lactic acidemia due to isolated complex I deficiency
PMID 30948790 : 1 patient. Congenital torticollis, nystagmus, FTT with episodic deterioration.Created: 21 Mar 2022, 6:18 a.m. | Last Modified: 21 Mar 2022, 6:18 a.m.
Panel Version: 0.740
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Publications
Gene: ndufs6 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Publications for gene: NDUFS6 were set to
Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: NDUFS6 was added gene: NDUFS6 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFS6 was set to Unknown