Callosome
Gene: NDUFS1

NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)
EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 13 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 9 unrelated families reported with supportive functional evidence. Developmental regression, dystonia, spasticity, respiratory issues and cerebral white matter anomalies including involvement of the corpus callosum reported (CC anomalies reported in at least 4 unrelated families).
Created: 20 Mar 2022, 11:22 p.m. | Last Modified: 20 Mar 2022, 11:22 p.m.

Panel Version: 0.391

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226

Publications

Created: 20 Mar 2022, 11:22 p.m.
Last Modified: 20 Mar 2022, 11:22 p.m.
Panel version: 0.391

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226

OMIM

157655

Clinvar variants

Variants in NDUFS1

Penetrance

None

Publications

Panels with this gene