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Inborn errors of metabolism

Gene: NDUFA4

Green List (high evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

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.

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)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated complex IV deficiency
  • No OMIM phenotype
OMIM
603833
Clinvar variants
Variants in NDUFA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to NDUFA4. Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4 Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFA4 was added gene: NDUFA4 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA4 was set to Unknown Publications for gene: NDUFA4 were set to PMID: 23746447 Phenotypes for gene: NDUFA4 were set to Isolated complex IV deficiency; No OMIM phenotype