Genes in panel

Inborn errors of metabolism

Gene: NDUFA5

Red List (low evidence)

NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5)
EnsemblGeneIds (GRCh38): ENSG00000128609
EnsemblGeneIds (GRCh37): ENSG00000128609
OMIM: 601677, Gene2Phenotype
NDUFA5 is in 5 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)

Created: 4 Feb 2016, 7:02 p.m.


Mode of Inheritance
  • Expert Review Red
  • No OMIM phenotype
  • Isolated complex I deficiency
Clinvar variants
Variants in NDUFA5
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: NDUFA5 was added gene: NDUFA5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFA5 was set to Unknown Phenotypes for gene: NDUFA5 were set to No OMIM phenotype; Isolated complex I deficiency