Mitochondrial disorders

Gene: NDUFA8

Green List (high evidence)

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

Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.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 in literature with supportive functional studies (PMID: 32385911; 33153867).

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

Panel Version: 2.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272

Publications

• 33153867
• 32385911

Red List (low evidence)

Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.

Created: 4 Aug 2020, 11:02 a.m. | Last Modified: 4 Aug 2020, 11:02 a.m.

Panel Version: 2.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures

Publications

• 32385911

Publications

• 15576045

Comment on list classification: Candidate gene, but no currently known pathogenic mutations, therefore this gene should be demoted to red.

Created: 8 Feb 2016, 2:33 p.m.

I don't know

no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiency

Created: 3 Feb 2016, 5:30 p.m.