Mitochondrial disorders

Gene: NDUFA4

The 'new-gene-name' tag has been added as the official HGNC gene symbol of NDUFA4 is COXFA4.

Created: 19 Dec 2025, 9:09 p.m. | Last Modified: 19 Dec 2025, 9:09 p.m.

Panel Version: 9.39

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #619065) and the OMIM record was last accessed on 19 December 2025.

Created: 19 Dec 2025, 9:08 p.m. | Last Modified: 19 Dec 2025, 9:08 p.m.

Panel Version: 9.39

Comment on phenotypes: No OMIM phenotype (23/05/2019).

Created: 23 May 2019, 2:22 p.m.

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 1 family (4 affecteds) reported with functional studies; also London team have diagnosed a second unrelated family; note that this is a Complex IV subunit.
From panesl: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex IV deficiency (Version 0.40).

Created: 23 May 2019, 2:19 p.m.

I don't know

Single reported family only, a lot of functional evidence. Does not meet criteria for Green at present.

Created: 31 Aug 2018, 4:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 23746447

Green List (high evidence)