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Cardiomyopathies - including childhood onset

Gene: NDUFA4

Amber List (moderate evidence)

NDUFA4 (NDUFA4, mitochondrial complex associated)
EnsemblGeneIds (GRCh38): ENSG00000189043
EnsemblGeneIds (GRCh37): ENSG00000189043
OMIM: 603833, Gene2Phenotype
NDUFA4 is in 7 panels

5 reviews

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, 11:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency

Publications

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, 12:05 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:43 a.m.

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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. Gene Symbol submitted: NDUFA4; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

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

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

2 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to NDUFA4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 Sep 2019, Gel status: 3

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 Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet 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