Gene: PRRT2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutations have recently been shown to cause various childhood-onset episodic syndromes including paroxysmal kinesigenic dyskinesia, infantile convulsions with choreoathetosis syndrome, and benign familial infantile epilepsy. 23077016 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia. 23176561 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. 23182655 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China. 23496026 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia. 25457817 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 Biomarker disease BEFREE PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. 29056747 2018
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 Biomarker disease BEFREE PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats. 30347267 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia. 31154286 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in paroxysmal kinesigenic dyskinesia. 31785815 2020
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B. 30009426 2018
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 Biomarker disease BEFREE Benign familial infantile epilepsy (41.7%; n = 602), paroxysmal kinesigenic dyskinesia (38.7%; n = 560) and infantile convulsions and choreoathetosis (14.3%; n = 206) constitute the vast majority of PRRT2-associated diseases, leaving 76 patients (5.3%) with a different primary diagnosis. 26598493 2015
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. 23363396 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation. 24465263 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681 2011
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. 25667652 2015
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Four patients had a deletion of a known movement disorder gene including paroxysmal kinesigenic dyskinesia (PRRT2; n=2), SGCE (myoclonus dystonia, n=1), and TITF1 (benign hereditary chorea, n=1). 22515636 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 CausalMutation disease CLINVAR Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases. 24661410 2014
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Heterozygous PRRT2 gene mutations also cause paroxysmal kinesigenic dyskinesia in African-Americans. 22985072 2012
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE Heterozygous dominant mutations of PRRT2 have been associated with various types of paroxysmal neurological manifestations, including benign familial infantile convulsions and paroxysmal kinesigenic dyskinesia. 25595153 2015
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 Biomarker disease BEFREE In an elegant publication in Cell Research, Tan and colleagues showed that ablation of PRRT2 in cerebellar granule cells is sufficient to induce paroxysmal kinesigenic dyskinesia. 29148542 2018
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GeneticVariation disease BEFREE In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. 23398397 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 GermlineCausalMutation disease ORPHANET In the past year, mutations in the PRRT2 gene have been identified in patients with paroxysmal kinesigenic dyskinesia and other paroxysmal disorders. 23398397 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		0.500 Biomarker disease BEFREE Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients. 27098784 2016