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

Phenotypes
Mitochondrial leukoencephalopathy

Publications

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

Created

Zornitza Stark (Australian Genomics)

NDUFA2 was created by Zornitza Stark