Mitochondrial disorder with complex I deficiency
Gene: NDUFAF2
NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels
3 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. Gene Symbol submitted: NDUFAF2; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 10, 618233
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 8 Feb 2016, 2:41 p.m.
Comment on list classification: Expert reviewer suggests the gene should be promoted to green, and it is a probable DD gene for Leigh syndrome.Created: 8 Feb 2016, 2:39 p.m.
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 10, 618233
- OMIM
- 609653
- Clinvar variants
- Variants in NDUFAF2
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- DDG2P
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
1 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFAF2 was added gene: NDUFAF2 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF2 were set to Mitochondrial complex I deficiency, nuclear type 10, 618233