Inherited white matter disorders

Gene: NDUFA2

Red List (low evidence)

NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)
EnsemblGeneIds (GRCh38): ENSG00000131495
EnsemblGeneIds (GRCh37): ENSG00000131495
OMIM: 602137, Gene2Phenotype
NDUFA2 is in 14 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:03 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Many mitochondrial conditions cause white matter abnormalities, and these have specifically been reported with this gene.
Created: 24 Jul 2018, 5:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mitochondrial leukoencephalopathy


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufa2 has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

NDUFA2 was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0


Zornitza Stark (Australian Genomics)

NDUFA2 was created by Zornitza Stark