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Inborn errors of metabolism

Gene: NDUFB4

Red List (low evidence)

NDUFB4 (NADH:ubiquinone oxidoreductase subunit B4)
EnsemblGeneIds (GRCh38): ENSG00000065518
EnsemblGeneIds (GRCh37): ENSG00000065518
OMIM: 603840, Gene2Phenotype
NDUFB4 is in 4 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, 8:24 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
603840
Clinvar variants
Variants in NDUFB4
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: NDUFB4 was added gene: NDUFB4 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB4 was set to Unknown Phenotypes for gene: NDUFB4 were set to No OMIM phenotype; Isolated complex I deficiency