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Inborn errors of metabolism

Gene: NDUFB10

Red List (low evidence)

NDUFB10 (NADH:ubiquinone oxidoreductase subunit B10)
EnsemblGeneIds (GRCh38): ENSG00000140990
EnsemblGeneIds (GRCh37): ENSG00000140990
OMIM: 603843, Gene2Phenotype
NDUFB10 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

Two variants in a compound heterozygous case with fatal infantile lactic acidosis and cardiomyopathy. Supportive functional studies were also performed.
Created: 14 May 2019, 3:58 p.m.

Publications

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, 7:12 p.m.

Details

Mode of Inheritance
Unknown
Sources
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
603843
Clinvar variants
Variants in NDUFB10
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: NDUFB10 was added gene: NDUFB10 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: NDUFB10 was set to Unknown Phenotypes for gene: NDUFB10 were set to No OMIM phenotype; Isolated complex I deficiency