Early onset dystonia
Gene: PDHX
PDHX (pyruvate dehydrogenase complex component X)
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000110435
EnsemblGeneIds (GRCh37): ENSG00000110435
OMIM: 608769, Gene2Phenotype
PDHX is in 13 panels
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 608769
- Clinvar variants
- Variants in PDHX
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Early onset dystonia
- Adult onset neurodegenerative disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Fetal anomalies
- Pyruvate dehydrogenase (PDH) deficiency
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()PDHX was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory