This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
Gene: NDUFA12
NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000184752
EnsemblGeneIds (GRCh37): ENSG00000184752
OMIM: 614530, Gene2Phenotype
NDUFA12 is in 14 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Fetal anomalies
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorder with complex I deficiency
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)NDUFA12 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)NDUFA12 was created by Sarah Leigh