Callosome
Gene: NDUFA11

NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)
EnsemblGeneIds (GRCh38): ENSG00000174886
EnsemblGeneIds (GRCh37): ENSG00000174886
OMIM: 612638, Gene2Phenotype
NDUFA11 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Original report of 3 apparently unrelated families: single homozygous variant in all three, suggesting founder effect. Presentation was severe in early infancy. More recent report of a late-onset myopathy and compound het variants.

Generalised brain atrophy reported, not CC abnormalities.
Created: 18 Feb 2022, 4:30 a.m. | Last Modified: 18 Feb 2022, 4:30 a.m.

Panel Version: 0.357

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 14, MIM#618236

Publications

Created: 18 Feb 2022, 4:30 a.m.
Last Modified: 18 Feb 2022, 4:30 a.m.
Panel version: 0.357

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 14, MIM#618236

OMIM

612638

Clinvar variants

Variants in NDUFA11

Penetrance

None

Publications

Panels with this gene