Inherited white matter disorders
Gene: NDUFAF3
NDUFAF3 (NADH:ubiquinone oxidoreductase complex assembly factor 3)
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000178057
EnsemblGeneIds (GRCh37): ENSG00000178057
OMIM: 612911, Gene2Phenotype
NDUFAF3 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Mitochondrial complex I deficiency 252010
- OMIM
- 612911
- Clinvar variants
- Variants in NDUFAF3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Inherited white matter disorders
- Early onset or syndromic epilepsy
- Optic neuropathy
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