Brain channelopathy
Gene: PRRT2Comment when marking as ready: added the 'treatable' tag. changed penetrance to incompleteCreated: 18 Jan 2017, 2:48 p.m.
Incomplete penetrance. Most mutations cause premature termination. One common mutation:649dupCCreated: 6 Jan 2017, 3:08 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
paroxysmal kinesigenic dyskinesia; familial infantile convulsions with paroxysmal choreoathetosis
Publications
Comment on list classification: Promoted from red to green as this gene 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, 3:19 p.m.
This gene has been classified as Green List (High Evidence).
Promoted to V1. January 23 2017
This gene has been classified as Green List (High Evidence).
Publications for PRRT2 were set to 22399141; 22744660; 22120146; 22101681
Mode of inheritance for PRRT2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for PRRT2 were set to CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; EPISODIC KINESIGENIC DYSKINESIA 1; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; episodic kinesigenic dyskinesia; dystonia and occasionally hemiplegic migraine and epilepsy
This gene has been classified as Green List (High Evidence).
PRRT2 was added to Brain channelopathypanel. Sources: UKGTN
PRRT2 was added to Brain channelopathypanel. Sources: Eligibility statement prior genetic testing