Callosome
Gene: NDUFA9

NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9)
EnsemblGeneIds (GRCh38): ENSG00000139180
EnsemblGeneIds (GRCh37): ENSG00000139180
OMIM: 603834, Gene2Phenotype
NDUFA9 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Structural brain abnormalities not reported.
Created: 17 Mar 2022, 6:46 a.m. | Last Modified: 17 Mar 2022, 6:46 a.m.

Panel Version: 0.368

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247

Publications

Created: 17 Mar 2022, 6:46 a.m.
Last Modified: 17 Mar 2022, 6:46 a.m.
Panel version: 0.368

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 17 Mar 2022, 12:13 a.m.
Last Modified: 17 Mar 2022, 12:13 a.m.
Panel version: 0.368

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247

OMIM

603834

Clinvar variants

Variants in NDUFA9

Penetrance

None

Publications

Panels with this gene