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  2. Paediatric or syndromic cardiomyopathy
  3. NDUFA11
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Paediatric or syndromic cardiomyopathy

Gene: NDUFA11

Green List (high evidence)
NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)
EnsemblGeneIds (GRCh38): ENSG00000174886
EnsemblGeneIds (GRCh37): ENSG00000174886
OMIM: 612638, Gene2Phenotype
NDUFA11 is in 9 panels

2 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: NDUFA11; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 14, 618236

Created: 1 Feb 2019, 4:29 p.m.

Panel version: 0.16

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

only one report in literature - six patients from three unrelated families
Created: 3 Feb 2016, 4:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 3 Feb 2016, 4:53 p.m.

Panel version: Imported from Mitochondrial disorder with complex I deficiency panel version Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • MetBioNet
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 14, 618236
OMIM
612638
Clinvar variants
Variants in NDUFA11
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: NDUFA11 was added gene: NDUFA11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, nuclear type 14, 618236