Regression
Gene: NDUFB3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Ten families and functional data. In particular, the 8 families of shared Irish ancestry only had short stature and dysmorphic features, without marked metabolic disturbance. One of the other reported individuals died in infancy but apart from this neurodevelopmental regression does not appear to be a prominent part of the phenotype.
Created: 10 May 2021, 8:07 a.m. | Last Modified: 10 May 2021, 8:07 a.m.

Panel Version: 0.326

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 10 May 2021, 8:07 a.m.
Last Modified: 10 May 2021, 8:07 a.m.
Panel version: 0.326

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Victorian Clinical Genetics Services

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