PRRT2, proline rich transmembrane protein 2, 112476

N. diseases: 353; N. variants: 29
Disease: Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778771
rs587778771
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		GC 0.700 CausalMutation CLINVAR The evolving spectrum of PRRT2-associated paroxysmal diseases. 26598493 2015
dbSNP: rs587778771
rs587778771
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		GC 0.700 CausalMutation CLINVAR Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361 2012
dbSNP: rs587778771
rs587778771
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		GC 0.700 CausalMutation CLINVAR Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761 2012
dbSNP: rs587778771
rs587778771
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		GC 0.700 CausalMutation CLINVAR Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 22120146 2011
dbSNP: rs587778771
rs587778771
Entrez Id: 112476;112268170
Gene Symbol: PRRT2;LOC112268170
PRRT2;LOC112268170
CUI: C1865926
Disease:
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 		GC 0.700 CausalMutation CLINVAR Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681 2011