Regression
Gene: NDUFAF2

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive neurological course.
Created: 17 Mar 2022, 7:23 a.m. | Last Modified: 17 Mar 2022, 7:23 a.m.

Panel Version: 0.416

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

Publications

Created: 17 Mar 2022, 7:23 a.m.
Last Modified: 17 Mar 2022, 7:23 a.m.
Panel version: 0.416

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 17 Mar 2022, 12:31 a.m.
Last Modified: 17 Mar 2022, 12:31 a.m.
Panel version: 0.408

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233

OMIM

609653

Clinvar variants

Variants in NDUFAF2

Penetrance

None

Publications

Panels with this gene