Regression
Gene: NDUFS6

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)
EnsemblGeneIds (GRCh38): ENSG00000145494
EnsemblGeneIds (GRCh37): ENSG00000145494
OMIM: 603848, Gene2Phenotype
NDUFS6 is in 10 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

Generally severe neonatal presentation. One patient with periods of developmental gain and episodic deterioration described.

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.

PMID 27290639: report 1 patient with death at 6 days of age

PMID 28429146: provide limited phenotypic information for 1 reported patient
Created: 21 Mar 2022, 6:30 a.m. | Last Modified: 21 Mar 2022, 6:30 a.m.

Panel Version: 0.439

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

Publications

Created: 21 Mar 2022, 6:30 a.m.
Last Modified: 21 Mar 2022, 6:30 a.m.
Panel version: 0.439

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232

OMIM

603848

Clinvar variants

Variants in NDUFS6

Penetrance

None

Publications

Panels with this gene