Inherited white matter disorders

Gene: NDUFAF3

Green List (high evidence)

NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 5 variants have been reported in 4 cases, they all present with an encephalopathic / raised lactate in early infancy with early mortality in 3/4 cases. All have documented white matter changes.
Created: 15 Mar 2018, 12:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency 252010

Publications

History Filter Activity

15 Mar 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Mar 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NDUFAF3 was added to Inherited white matter disorders panel. Sources: Literature

15 Mar 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

NDUFAF3 was created by Sarah Leigh