This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
PMID 21617257 descibes a single patient. Two other variants on HGMD,but from large multi centre clinical exome studies and unable to confirm that they had movement disorder as a featureCreated: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- ?Mitochondrial complex I deficiency, nuclear type 23, 618244
- OMIM
- 614530
- Clinvar variants
- Variants in NDUFA12
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Mitochondrial disorder with complex I deficiency
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Fetal anomalies
- Intellectual disability
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 23, 618244 for gene: NDUFA12
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to NDUFA12.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NDUFA12 was added gene: NDUFA12 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NDUFA12 was set to