Dystonia - childhood onsetGene: PRRT2
Checked against super panel made up of the panel constituents. Ready to promote to version 1
Tag treatable tag was added to gene: PRRT2.
gene: PRRT2 was added gene: PRRT2 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRRT2 were set to 22744660; 22101681; 20301334; 22120146; 22399141 Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; episodic kinesigenic dyskinesia; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; dystonia and occasionally hemiplegic migraine and epilepsy; Episodic kinesigenic dyskinesia 1, 128200