Possible mitochondrial disorder - nuclear genes
Gene: NDUFAF4
NDUFAF4 (NADH:ubiquinone oxidoreductase complex assembly factor 4)
EnsemblGeneIds (GRCh38): ENSG00000123545
EnsemblGeneIds (GRCh37): ENSG00000123545
OMIM: 611776, Gene2Phenotype
NDUFAF4 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000123545
EnsemblGeneIds (GRCh37): ENSG00000123545
OMIM: 611776, Gene2Phenotype
NDUFAF4 is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 15, 618237
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 15, 618237
- OMIM
- 611776
- Clinvar variants
- Variants in NDUFAF4
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Early onset or syndromic epilepsy
- Mitochondrial disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFAF4 was added gene: NDUFAF4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF4 were set to Mitochondrial complex I deficiency, nuclear type 15, 618237