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  3. NDUFA4
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Possible mitochondrial disorder - nuclear genes

Gene: NDUFA4

Green List (high evidence)
NDUFA4 (NDUFA4, mitochondrial complex associated)
EnsemblGeneIds (GRCh38): ENSG00000189043
EnsemblGeneIds (GRCh37): ENSG00000189043
OMIM: 603833, Gene2Phenotype
NDUFA4 is in 6 panels

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The 'new-gene-name' tag has been added as the official HGNC gene symbol of NDUFA4 is COXFA4.
Created: 19 Dec 2025, 9:07 p.m. | Last Modified: 19 Dec 2025, 9:07 p.m.
Panel Version: 4.18
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, 9:06 p.m. | Last Modified: 19 Dec 2025, 9:06 p.m.
Panel Version: 4.18
Created: 19 Dec 2025, 9:06 p.m.
Last Modified: 19 Dec 2025, 9:06 p.m.
Panel version: 4.18

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated 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.
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency

Publications

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

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.
Created: 10 May 2019, 1:56 p.m.
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.
Created: 29 Mar 2019, 1:52 p.m.

Panel version: 0.45

Ivone Leong (Genomics England Curator)

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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

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

Panel version: 0.5

Zornitza Stark (Australian Genomics)

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

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

Panel version: Imported from Mitochondrial disorders panel version 1.67

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065
  • mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656
Tags
new-gene-name
OMIM
603833
Clinvar variants
Variants in NDUFA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: NDUFA4.

19 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype; Mitochondrial complex IV deficiency to ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065; mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656

23 May 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFA4 were changed from No OMIM phenotype to No OMIM phenotype; Mitochondrial complex IV deficiency

10 May 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufa4 has been classified as Green List (High Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufa4 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NDUFA4 was added gene: NDUFA4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA4 were set to 23746447; 29636225 Phenotypes for gene: NDUFA4 were set to No OMIM phenotype