Regression
Gene: NDUFAF1

NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Severe HCM predominates as the presenting feature in the cases reported to date.
Created: 17 Mar 2022, 6:56 a.m. | Last Modified: 17 Mar 2022, 6:56 a.m.

Panel Version: 0.412

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

Publications

Created: 17 Mar 2022, 6:56 a.m.
Last Modified: 17 Mar 2022, 6:56 a.m.
Panel version: 0.412

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 17 Mar 2022, 12:27 a.m.
Last Modified: 17 Mar 2022, 12:27 a.m.
Panel version: 0.408

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

OMIM

606934

Clinvar variants

Variants in NDUFAF1

Penetrance

None

Publications

Panels with this gene