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Inborn errors of metabolism

Gene: NDUFB11

Green List (high evidence)

NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 25772934; 25921236
Created: 2 Mar 2016, 1:27 p.m.
Comment on mode of inheritance: X-linked dominant, and de novo mutations reported.
Created: 2 Mar 2016, 1:25 p.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for microphthalmia with linear skin defects syndrome. Publications include 4 unrelated cases (all of which displayed a cardiomyopathy aspect to their phenotype).
Created: 2 Mar 2016, 1:24 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

heterozygous mutations identified in MLS-affected females;

de novo non-sense mutations reported in two female probands with histiocytoid cardiomyopathy
Created: 4 Feb 2016, 1:56 p.m.

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

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
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3
  • microphthalmia with linear skin defects syndrome
  • histiocytoid cardiomyopathy
  • Isolated complex I deficiency
OMIM
300403
Clinvar variants
Variants in NDUFB11
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency for gene: NDUFB11

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NDUFB11 was added gene: NDUFB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to histiocytoid cardiomyopathy; microphthalmia with linear skin defects syndrome; Linear skin defects with multiple congenital anomalies 3; Isolated complex I deficiency