Early onset dystonia
Gene: PRRT2EnsemblGeneIds (GRCh38): ENSG00000167371
EnsemblGeneIds (GRCh37): ENSG00000167371
OMIM: 614386, Gene2Phenotype
PRRT2 is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is a confirmed gene in the Inherited (Monogenic) Forms of Dystonia/Dyskinesias (DYTs): https://www.ncbi.nlm.nih.gov/books/NBK1155/ for Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions. It is a confirmed DD gene for BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME (which includes paroxysmal dystonia as a phenotype). Multiple cases/families with different variants from different ethnicities reported for episodic kinesigenic dyskinesia and convulsions, familial infantile, with paroxysomal choreoathetosis.Created: 23 Aug 2016, 2:59 p.m.
Is on the Brain Channel NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:28 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Episodic kinesigenic dyskinesia 1, 128200
- Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
- OMIM
- 614386
- Clinvar variants
- Variants in PRRT2
- Penetrance
- Complete
- Publications
-
- http://www.ncbi.nlm.nih.gov/books/NBK1155/
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Paroxysmal central nervous system disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PRRT2 were set to Episodic kinesigenic dyskinesia 1, 128200;Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen Thomas (Genomics England Curator)Publications for PRRT2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)PRRT2 was added to Early onset dystoniapanel. Sources: Expert
Added New Source
GEL ()PRRT2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()PRRT2 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()PRRT2 was added to Early onset dystoniapanel. Sources: UKGTN