Adult onset dystonia, chorea or related movement disorder
Gene: PNPT1EnsemblGeneIds (GRCh38): ENSG00000138035
EnsemblGeneIds (GRCh37): ENSG00000138035
OMIM: 610316, Gene2Phenotype
PNPT1 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:44 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
23084291 descibes one family (2 children) with homozygous variant and features that included dystonic and choreoathetotic movements.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Combined oxidative phosphorylation deficiency 13, 614932
Publications
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 13, OMIM:614932
- Dystonia
- OMIM
- 610316
- Clinvar variants
- Variants in PNPT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Monogenic hearing loss
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13, 614932; Dystonia to Combined oxidative phosphorylation deficiency 13, OMIM:614932; Dystonia
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932 for gene: PNPT1 Publications for gene PNPT1 were changed from to 30046113; 23084291
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PNPT1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to PNPT1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PNPT1 was added gene: PNPT1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: PNPT1 was set to Phenotypes for gene: PNPT1 were set to Dystonia