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Inborn errors of metabolism

Gene: NDUFA8

Red List (low evidence)

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)
EnsemblGeneIds (GRCh38): ENSG00000119421
EnsemblGeneIds (GRCh37): ENSG00000119421
OMIM: 603359, Gene2Phenotype
NDUFA8 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Candidate gene, but no currently known pathogenic mutations, therefore this gene should be demoted to red.
Created: 8 Feb 2016, 2:33 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiency
Created: 3 Feb 2016, 5:30 p.m.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • Mitochondrial Diseases
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
603359
Clinvar variants
Variants in NDUFA8
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA8 was added gene: NDUFA8 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to Mitochondrial Diseases; No OMIM phenotype; Isolated complex I deficiency