Early onset dystonia
Gene: PRRT2Comment 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.
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for PRRT2 were set to Episodic kinesigenic dyskinesia 1, 128200;Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for PRRT2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PRRT2 was added to Early onset dystoniapanel. Sources: Expert
PRRT2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
PRRT2 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
PRRT2 was added to Early onset dystoniapanel. Sources: UKGTN