Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: NDUFB1

Red List (low evidence)

NDUFB1 (NADH:ubiquinone oxidoreductase subunit B1)
EnsemblGeneIds (GRCh38): ENSG00000183648
EnsemblGeneIds (GRCh37): ENSG00000183648
OMIM: 603837, Gene2Phenotype
NDUFB1 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, 7:10 p.m.


Mode of Inheritance
  • Expert Review Red
  • No OMIM phenotype
  • Isolated complex I deficiency
Clinvar variants
Variants in NDUFB1
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: NDUFB1 was added gene: NDUFB1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB1 was set to Unknown Phenotypes for gene: NDUFB1 were set to No OMIM phenotype; Isolated complex I deficiency