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
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Intellectual disability
- Early onset dystonia
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Pyruvate dehydrogenase (PDH) deficiency
- Neurodegenerative disorders, adult onset
- DDG2P
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