Possible mitochondrial disorder - nuclear genes

Gene: NDUFA5

Green List (high evidence)

5 individuals from 4 families with compound heterozygous variants and mitochondrial complex I deficiency

PMID 41859003: 1 patient with compound heterozygous c.335G>A p.W112* and c.67-2A>G
PMID 41916321: 4 individuals from 3 unrelated families with biallelic variants.
Family 1 Compound heterozygous c.115C>G (p.Pro39Ala) / c.38_39insG (p.Leu14Ilefs*20)
Family 2 Compound heterozygous c.1A>C / c.183G>A (synonymous but splice effect p.Arg23_Ala61del)
Family 3 Homozygous c.183G>A

Created: 2 Apr 2026, 1:44 p.m. | Last Modified: 2 Apr 2026, 1:44 p.m.

Panel Version: 4.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency

Publications

• PMID: 41859003
• 41916321

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human disease; complex I subunit

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

• none found

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 1:52 p.m.

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

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, 7:02 p.m.