Mitochondrial disorders
Gene: NDUFAF2EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels
2 reviews
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
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, 252010
- Leigh syndrome, 256000
- Mitochondrial Respiratory Chain Complex I Deficiency
- OMIM
- 609653
- Clinvar variants
- Variants in NDUFAF2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Optic neuropathy
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NDUFAF2. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for NDUFAF2 were set to Isolated complex I deficiency; Mitochondrial complex I deficiency, 252010; Leigh syndrome, 256000; Mitochondrial Respiratory Chain Complex I Deficiency
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene NDUFAF2 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services