Possible mitochondrial disorder - nuclear genes
Gene: NDUFA11

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)

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 14, 618236

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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 disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFA11 was added gene: NDUFA11 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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

Possible mitochondrial disorder - nuclear genes Gene: NDUFA11