Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFB10
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
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
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
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.
Tag Q3_22_rating was removed from gene: NDUFB10.
Source NHS GMS was added to NDUFB10. Source Expert Review Green was added to NDUFB10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: NDUFB10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to
Phenotypes for gene: NDUFB10 were changed from No OMIM phenotype; Isolated complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Tag Q3_22_rating tag was added to gene: NDUFB10.
Sarah Leigh: Associated with phenotype in O
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