MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:4596
Name:Familial paroxysmal dystonia
Definition:
Alternative IDs:OMIM:128200
ParentIDs:MESH:D004421
TreeNumbers:C10.597.350.300/C537180 |C23.888.592.350.300/C537180
Synonyms:Dystonia 10 |Dystonia, familial paroxysmal |DYT10 |EKD1 |Episodic Kinesigenic Dyskinesia 1 |Familial Paroxysmal Kinesigenic Dyskinesia |Paroxysmal kinesigenic choreoathetosis |Paroxysmal Kinesigenic Dyskinesia |PKC |PKD
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: C537180
MeSH: C537180
OMIM: 128200;
MSeqDR LSDB:  
Genes: PRRT2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000271Abnormality of the face
3 HP:0003829Incomplete penetrance
4 HP:0002310Orofacial dyskinesia
5 HP:0007098Paroxysmal choreoathetosis
6 HP:0002268Paroxysmal dystonia
7 HP:0001250Seizures
NAMDC:  Seizures
HP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000016.9:g.(?_29824311)_(29827202_?)dup112476PRRT2Uncertain significance-1RCV000475685; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982431129827202nana-C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)112476PRRT2Pathogenic-1RCV001004741; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982442129824422GGAG16:g.29824421_29824422del-
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg)112476PRRT2Uncertain significancers1567378768RCV000678832|RCV000696590; NHuman Phenotype Ontology:HP:0011172,MedGen:C0751057|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982454829824548CG16:g.29824548C>G-C0751057 Complex febrile seizures;
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser)112476PRRT2Uncertain significancers758787026RCV000536881; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982466829824668AG16:g.29824668A>GClinGen:CA7994502C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.304del (p.Glu102fs)112476PRRT2Likely pathogenicrs1567379016RCV000768058; NMONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982467929824679CGCNC_000016.9:g.29824679del-
NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys)112476PRRT2Likely benignrs1555502665RCV000549521; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982473929824739CA16:g.29824739C>AClinGen:CA395478375C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)112476PRRT2Benignrs79182085RCV000118065|RCV000426092|RCV000471449|RCV000715025|RCV001080628; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MedGen:C2711754|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982478729824787CG16:g.29824787C>GClinGen:CA289005,UniProtKB:Q7Z6L0#VAR_067010C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr)112476PRRT2Uncertain significancers763634807RCV000188762|RCV000644947; NMedGen:CN517202|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982479029824790GANC_000016.9:g.29824790G>AClinGen:CA317019C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu)112476PRRT2Uncertain significancers1317648011RCV000523548|RCV000542218; NMedGen:CN517202|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982480629824806CT16:g.29824806C>TClinGen:CA395478667C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln)112476PRRT2Uncertain significancers200877676RCV000688995|RCV000765285; NMONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982480929824809GANC_000016.9:g.29824809G>A-C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr)112476PRRT2Uncertain significance-1RCV001839305|RCV002034711; NMONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982481129824811CA29824811-
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)112476PRRT2Benignrs79568162RCV000175976|RCV000456838|RCV000989591|RCV001704051; NMedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MedGen:CN517202162982481429824814GC16:g.29824814G>CClinGen:CA302824,UniProtKB:Q7Z6L0#VAR_067011C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.483T>C (p.Pro161=)112476PRRT2Likely benignrs751980660RCV000644956; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982485829824858TC16:g.29824858T>CClinGen:CA7994534C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile)112476PRRT2Uncertain significancers755440222RCV000706811; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982486029824860CTNC_000016.9:g.29824860C>T-C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter)112476PRRT2Pathogenicrs387907127RCV000024174|RCV000024175; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709162982486229824862CT16:g.29824862C>TClinGen:CA129730,OMIM:614386.0009C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.510dup (p.Leu171fs)112476PRRT2Pathogenicrs397515576RCV000055989; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982488329824884AAT16:g.29824883_29824884insTClinGen:CA345081C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs)112476PRRT2Pathogenicrs730882065RCV000024167; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982488529824888TTCTGT16:g.29824885_29824888delClinGen:CA259997,OMIM:614386.0002C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs)112476PRRT2Pathogenicrs1555502708RCV000625699; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982490729824910AAAGCA16:g.29824907_29824910delClinGen:CA658798586C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)112476PRRT2Pathogenicrs730882067RCV000024169|RCV000188767|RCV000644950; NMONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MedGen:CN517202|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982499729824998TTCNC_000016.9:g.29825004dupClinGen:CA129725,OMIM:614386.0004C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser)112476PRRT2Uncertain significancers779020826RCV000468258|RCV000765286; NMONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982501029825010AGNC_000016.9:g.29825010A>GClinGen:CA7994559C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)112476PRRT2Pathogenic/Likely pathogenic-1RCV000055991|RCV000188779|RCV000193894|RCV000585818|RCV000153783|RCV000791409|RCV000991298|RCV000768059|RCV001563615|RCV000718212|RCV001264813; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MedGen:CN517202|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:00162982501529825016GGCNC_000016.9:g.29825024dupClinGen:CA180353,OMIM:614386.0001C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.649del (p.Arg217fs)112476PRRT2Pathogenic/Likely pathogenicrs587778771RCV000032970|RCV000188778|RCV000820557|RCV001253175; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MedGen:CN517202|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306162982501629825016GCGNC_000016.9:g.29825024delClinGen:CA261215,OMIM:614386.0011C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)112476PRRT2Conflicting interpretations of pathogenicityrs76335820RCV000055990|RCV000791448|RCV001332952|RCV001719806; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MedGen:CN517202162982502229825022CGNC_000016.9:g.29825022C>GClinGen:CA317033C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln)112476PRRT2Uncertain significancers200849527RCV000644946; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982505529825055GANC_000016.9:g.29825055G>AClinGen:CA7994570C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)112476PRRT2Pathogenicrs397514579RCV000032974|RCV000032975; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306162982512329825123CT16:g.29825123C>TClinGen:CA130523,OMIM:614386.0015C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.751T>C (p.Leu251=)112476PRRT2Benignrs11150573RCV000153784|RCV001510040|RCV001789222|RCV001789223|RCV001789224; NMedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066, Orphanet:31709|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:60575162982512629825126TC16:g.29825126T>CClinGen:CA180354CN169374 not specified;
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu)112476PRRT2Benign/Likely benignrs560303559RCV000368601|RCV000463630|RCV001249313|RCV001711857; NMedGen:CN169374|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809|MONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809; MONDO:MONDO:0011178,MedGen:C1865926,OMIM:602066,162982514829825148GA16:g.29825148G>AClinGen:CA7994585C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)112476PRRT2Pathogenicrs387907128RCV000024176; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982517129825171CT16:g.29825171C>TClinGen:CA259999,UniProtKB:Q7Z6L0#VAR_067322,OMIM:614386.0010C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg)112476PRRT2Uncertain significancers1567380135RCV000692647; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982521629825216TC16:g.29825216T>C-C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro)112476PRRT2Uncertain significancers727504111RCV000644952; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982569029825690GCNC_000016.9:g.29825690G>CClinGen:CA395480578C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)112476PRRT2Conflicting interpretations of pathogenicityrs1301400509RCV000515468|RCV001857289; NMONDO:MONDO:0011593,MedGen:C1853995,OMIM:605751, Orphanet:306; MONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809|MONDO:MONDO:0044202,MedGen:C1868682,OMIM:PS128200, Orphanet:98809162982573329825733CT16:g.29825733C>TClinGen:CA395480710C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp)112476PRRT2Uncertain significancers757940549RCV000644953; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982574129825741GTNC_000016.9:g.29825741G>TClinGen:CA7994632C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.972del (p.Val325fs)112476PRRT2Pathogenicrs730882066RCV000024168; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982574629825746GAGNC_000016.9:g.29825746delClinGen:CA259998,OMIM:614386.0003C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.972_975del (p.Val325fs)112476PRRT2Likely pathogenicrs1555502908RCV000644945; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982574629825749GAGTCG16:g.29825746_29825749delClinGen:CA658798587C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.990C>T (p.Ala330=)112476PRRT2Likely benignrs1322978278RCV000644958; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982576429825764CT16:g.29825764C>TClinGen:CA494582937C1868682 128200 Dystonia 10;
NM_145239.3(PRRT2):c.1012+5G>T112476PRRT2Uncertain significance-1RCV002052094; NMONDO:MONDO:0100352,MedGen:C4552000,OMIM:128200, Orphanet:98809162982579129825791GT29825791-
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