Likely inborn error of metabolism

Gene: NDUFB10

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.

Panel Version: 3.6

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Three individuals from two unrelated families now reported with convincing functional studies that support mitochondrial disease (PMID: 28040730; 33169436)

Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003

Publications

• 28040730
• 32025618
• 33169436

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

• 28040730

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.