Fetal anomalies
Gene: NDUFB11

NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

IUGR reported in 2x and failure to thrive and short stature reported in 6x (of which age of onset are as follows: 2x 'after birth' 2x fetal, 1x 3-4y).

Cardiac abnormalities such as DCM, HCM, histiocytoid cardiomyopathy, thickened myocardium and pericardial effusion have also been reported.

at least 15 individuals reported thus far

It has been suggested that heterozygous females do not display the severe phenotype associated with mitochondrial complex 1 deficiency due to highly skewed XCI favouring expression of the wild type allele, whereas these null variants result in a severe lethal disorder in hemizygous males (PMID: 25772934). Affected females have previously been reported with inherited pathogenic variants from their unaffected mothers. It has been suggested that this may be due to patterns of somatic X-chromosome inactivation, mosaicism or additional genetic or external factors (PMID: 28050600).
Created: 24 Jan 2022, 12:53 a.m. | Last Modified: 24 Jan 2022, 12:53 a.m.

Panel Version: 0.2665

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mitochondrial complex I deficiency, nuclear type 30 MIM#301021

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Jan 2022, 12:53 a.m.
Last Modified: 24 Jan 2022, 12:53 a.m.
Panel version: 0.2665

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Mitochondrial complex I deficiency, nuclear type 30 MIM#301021
Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952)

OMIM

300403

Clinvar variants

Variants in NDUFB11

Penetrance

None

Publications

Panels with this gene