Mitochondrial disease
Gene: NDUFB3

NDUFB3 (NADH:ubiquinone oxidoreductase subunit B3)
EnsemblGeneIds (GRCh38): ENSG00000119013
EnsemblGeneIds (GRCh37): ENSG00000119013
OMIM: 603839, Gene2Phenotype
NDUFB3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 families reported. Relatively mild phenotype associated with the recurrent p.Trp22Arg variant (distinctive facial features, short stature, mild biochemical abnormalities).
Created: 10 May 2021, 8 a.m. | Last Modified: 10 May 2021, 8 a.m.

Panel Version: 0.623

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629

Publications

Created: 10 May 2021, 8 a.m.
Last Modified: 10 May 2021, 8 a.m.
Panel version: 0.623

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

p.Trp22Arg is a recurring variant
Created: 10 May 2021, 6:40 a.m. | Last Modified: 10 May 2021, 6:40 a.m.

Panel Version: 0.7564

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 25, MIM#618246

Publications

PMID: 22499348

Created: 10 May 2021, 6:40 a.m.
Last Modified: 10 May 2021, 6:40 a.m.
Panel version: Imported from Mendeliome panel version 0.7564

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246
MONDO:0032629

OMIM

603839

Clinvar variants

Variants in NDUFB3

Penetrance

None

Publications

Panels with this gene