This Panel is marked as Internal
Dystonia - childhood onset
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex 1 deficiency 256000
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- DDG2P
- Optic neuropathy
- Mitochondrial disorder with complex I deficiency
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Fetal anomalies
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Eleanor Williams: Updated to green when making t
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NDUFA12 was added gene: NDUFA12 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 21617257 Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000