Possible mitochondrial disorder - nuclear genes
Gene: NDUFAF1
NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1)
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000137806
EnsemblGeneIds (GRCh37): ENSG00000137806
OMIM: 606934, Gene2Phenotype
NDUFAF1 is in 10 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 11, 618234
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 11, 618234
- OMIM
- 606934
- Clinvar variants
- Variants in NDUFAF1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
- Intellectual disability
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: NDUFAF1 was added gene: NDUFAF1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF1 were set to Mitochondrial complex I deficiency, nuclear type 11, 618234