Early onset dystonia
Gene: PNPT1
PNPT1 (polyribonucleotide nucleotidyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels
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Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 610316
- Clinvar variants
- Variants in PNPT1
- Penetrance
- Complete
- Panels with this gene
-
- Monogenic hearing loss
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Hereditary ataxia with onset in adulthood
- DDG2P
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Early onset dystonia
- Adult onset neurodegenerative disorder
- Possible mitochondrial disorder - nuclear genes
- Intellectual disability
- 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 ()PNPT1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory