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Cardiomyopathies - including childhood onset

Gene: NDUFB11

Green List (high evidence)

NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
EnsemblGeneIds (GRCh38): ENSG00000147123
EnsemblGeneIds (GRCh37): ENSG00000147123
OMIM: 300403, Gene2Phenotype
NDUFB11 is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFB11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 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)

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952

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
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 30, 301021
  • Linear skin defects with multiple congenital anomalies 3, 300952
OMIM
300403
Clinvar variants
Variants in NDUFB11
Penetrance
None
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: NDUFB11 was added gene: NDUFB11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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 ?Mitochondrial complex I deficiency, nuclear type 30, 301021; Linear skin defects with multiple congenital anomalies 3, 300952