Names of Genes by Syndrome

Syndrome Gene Chromosome Location Category
PACS1 syndromePACS111q13.1Autism spectrum
Pallister-Killian mosaic syndromemultiple12iso(p)Cleft lip / cleft palate
PALLISTER-KILLIAN SYNDROMEPKS12pAutism spectrum
Parkinson disease - otherGBA1q22Parkinsonism
Parkinson disease - otherLRRK212q12Parkinsonism
Parkinson disease - otherPARK71p36.23Parkinsonism
Parkinson disease - otherPINK11p36.12Parkinsonism
Parkinson disease - otherPRKN6q26Parkinsonism
Parkinson disease - otherSNCA4q22.1Parkinsonism
Parkinson disease - otherUCHL14p13Parkinsonism
Parkinson disease age at onsetPARK101p32 Parkinsonism
Parkinson disease autosomal dominantCHCHD27 p11.2Parkinsonism
Parkinson disease autosomal dominantPARK32p13 Parkinsonism
Parkinson disease autosomal recessiveFBXO722 q12.3Parkinsonism
Parkinson disease autosomal recessivePLA2G622 q13.1Parkinsonism
Parkinson disease autosomal recessiveVPS13C15 q22,.2Parkinsonism
Parkinson disease early onsetDNAJC61p31.3 Parkinsonism
Parkinson disease early onset SYNJ121 q22.11Parkinsonism
Parkinson disease susceptabilityADH1C4q23 Parkinsonism
Parkinson disease susceptabilityATXN212q24.12 Parkinsonism
Parkinson disease susceptabilityATXN8OS13 q21.33Parkinsonism
Parkinson disease susceptabilityGLUD223q24 Parkinsonism
Parkinson disease susceptabilityTBP6q27 Parkinsonism
Parkinson disease x-linkedPARK1223q21-25 Parkinsonism
Parkinson disease type 9ATP13A21p36.13Parkinsonism
Parkinson Disease type 11GIGYF22q37.1Parkinsonism
Parkinson Disease type 13HTRA22p13.1Parkinsonism
Parkinson Disease type 17VPS3516q11.2Parkinsonism
Parkinson Disease type 18EIF4G13q27.1Parkinsonism
Parkinson-dementia syndromeMAPT17 q21.31Parkinsonism
Paroxysmal extreme pain disorderSCN2A2q24.3Bradycardia (<60 beats/minute)
Paroxysmal nocturnal hemoglobinuriaPIGA23p22.1Tachycardia (>100 beats/minute)
Partington syndromeARX23p21.3Autism spectrum
Patau syndrometrisomy13allCleft lip / cleft palate
Pelizaeus-Merzbacher diseasePLP123q22.2Ataxia spectrum
Pelizaeus-Merzbacher-like disease type 01GJC21q42.13Ataxia spectrum
Periodic fever - menstrual cycle-dependentHTR1A5q12.3Panic phobia anxiety
Periventricular heterotopiaARFGEF220q13.13Microcephaly
Periventricular heterotopiaFLNA23q28Microcephaly
Permanent neonatal diabetes mellitusABCC811p15.1Diabetes
Permanent neonatal diabetes mellitusGCK7p13Diabetes
Permanent neonatal diabetes mellitusINS11p15.5Diabetes
Permanent neonatal diabetes mellitusKCNJ1111p15.1Diabetes
Permanent neonatal diabetes mellitusPDX113q12.2Diabetes
Peroxisomal acyl-CoA oxidase deficiencyACOX117q25.1Epilepsy and seizures
PEROXISOME BIOGENESIS DISORDER 9BPBD9B6q23.3Autism spectrum
Perrault syndromeCGF123p11.22Ataxia spectrum
Perrault syndromeCLPP19p13.3Ataxia spectrum
Perrault syndromeHARS25q31.3Ataxia spectrum
Perrault syndromeHSD17B45q23.1Ataxia spectrum
Perrault syndromeLARS23p21.31Ataxia spectrum
Pervasive Developmental Delay - not otherwise specifiedNLGN217p13.1Pervasive Developmental Delay
Pervasive Developmental Delay - not otherwise specifiedNRXN211q13.1Pervasive Developmental Delay
Pervasive Developmental Delay - not otherwise specifiedNRXN314q24.3Pervasive Developmental Delay
Peters plus syndromeB3GLCT13q12.3Cleft lip / cleft palate
Phelan-McDermid SyndromePHMDS22q13.33Autism spectrum
Phelan-McDermid SyndromeSHANK322q13.33Autism spectrum
PHENYLKETONURIAPKU12q23.2Autism spectrum
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS H PROTEINPIGH14q24.1Autism spectrum
Phosphoglycerate dehydrogenase deficiencyPHGDH1p12Microcephaly
Phosphoglycerate kinase deficiencyPGK123q13.3Tachycardia (>100 beats/minute)
Pilarowski-Bjornsson syndromeCHD15q15-21.1Autism spectrum
Pilarowski-Bjornsson syndromePILBOS5q15-q21Autism spectrum
Pitt-Hopkins syndromeNRXN12p16.3Autism spectrum
Pitt-Hopkins syndromeTCF418q21.1Autism spectrum
PITT-HOPKINS-LIKE SYNDROME 1PTHSL17q35-q36Autism spectrum
Pitt-Hopkins-like syndrome 2NRXN12p16.3Autism spectrum
Pitt-Hopkins-like syndrome 2PTHSL22p16.3Autism spectrum
PMM2-congenital disorder of glycosylationPMM26p13.2Ataxia spectrum
Pol III-related leukodystrophyPOLR3A10q22.3Ataxia spectrum
Pol III-related leukodystrophyPOLR3B12q23.3Ataxia spectrum
Polyhydramnios megalencephaly and symptomatic epilepsySTRADA17q23.3Epilepsy and seizures
Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC)ABHD1220p11.21Cataracts
POLY-U-BINDING SPLICING FACTOR 60-KDPUF608q24.3Autism spectrum
Pontocerebellar hypoplasiaAMPD21p13.3Microcephaly
Pontocerebellar hypoplasiaCHMP1A16q24.3Microcephaly
Pontocerebellar hypoplasiaCLP111q12Microcephaly
Pontocerebellar hypoplasiaEXOSC39p11Microcephaly
Pontocerebellar hypoplasiaRARS26q16.1Microcephaly
Pontocerebellar hypoplasiaSEPSECS4p15.2Microcephaly
Pontocerebellar hypoplasiaTSEN23p25.2Microcephaly
Pontocerebellar hypoplasiaTSEN3419q13.4Microcephaly
Pontocerebellar hypoplasiaTSEN5417q25.1Microcephaly
Pontocerebellar hypoplasiaVRK114q32Microcephaly
PONTOCEREBELLAR HYPOPLASIA TYPE 11PCH113q12.1-2Autism spectrum
POPOV-CHANG SYNDROMEPOPCHAS8q22.3Autism spectrum
PORETTI-BOLTSHAUSER SYNDROMEPTBHS18p11.31Autism spectrum
Posterior column ataxia with retinitis pigmentosaFLVCR11q32.3Ataxia spectrum
POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13KCTD1316p11.2Autism spectrum
POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3KCTD31q41Autism spectrum
POTASSIUM CHANNEL VOLTAGE-GATED SUBFAMILY H MEMBER 5KCNH514q23.2Autism spectrum
Potassium gated epilepsy and autismKCND27q31Autism spectrum
Potocki-Lupski syndromePTLS17p11.2Autism spectrum
Potocki-Lupski syndromeRAI117p11.2Autism spectrum
Potocki-Shaffer syndromeALX411p11.2Autism spectrum
Potocki-Shaffer syndromeEXT211p11-12Autism spectrum
Potocki-Shaffer syndromePHF21A11p11Autism spectrum
PPP2R5D-related intellectual disabilityPPP2R5D6p21.1Autism spectrum
Prader-WilliHBII-8515p11-13Autism spectrum
Prader-WilliHERC215q13Autism spectrum
Prader-WilliMAGEL215q11.2Autism spectrum
Prader-WilliOCA215q21.3Autism spectrum
PRECEREBELLIN 1CBLN116q12.1Autism spectrum
PRICKLE1-related progressive myoclonus epilepsy with ataxiaPRICKLE112q12Ataxia spectrum
Primary carnitine deficiencySLC22A55q31.1Reye`s Syndrome-like diseases
Primary coenzyme Q10 deficiencyCOQ24Q21.22Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ49Q34.11Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ614Q24.3Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ716P12.3Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ8A1Q42.13Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ8B19q13.2Ataxia spectrum
Primary coenzyme Q10 deficiencyCOQ916q21Ataxia spectrum
Primary coenzyme Q10 deficiencyPDSS110p12.1Ataxia spectrum
Primary coenzyme Q10 deficiencyPDSS26q21Ataxia spectrum
Primrose syndromePRIMS3q13.31Autism spectrum
Primrose syndromeZBTB203q13.31Autism spectrum
Progressive external ophthalmoplegiaAFG3L218p11.21Ataxia spectrum
Progressive external ophthalmoplegiaDNA210q21.3Ataxia spectrum
Progressive external ophthalmoplegiaMT-TI04263Ataxia spectrum
Progressive external ophthalmoplegiaPOLG217q23.3Ataxia spectrum
Progressive external ophthalmoplegiaRNASEH12p25.3Ataxia spectrum
Progressive external ophthalmoplegiaSLC25A44q35.1Ataxia spectrum
Progressive external ophthalmoplegiaSPG716q24.3Ataxia spectrum
Progressive external ophthalmoplegiaTK216q21Ataxia spectrum
Progressive familial heart blockTRPM419q13.33Bradycardia (<60 beats/minute)
progressive myoclonic epilepsy 3KCDT77q11.21Epilepsy and seizures
progressive myoclonic epilepsy 5PRICKLE23p14.1Epilepsy and seizures
progressive myoclonic epilepsy 8CERS119p13.11Epilepsy and seizures
Progressive supranuclear palsyMAPT17q21.1Cerebral palsy
PROTEIN PHOSPHATASE 2 REGULATORY SUBUNIT B GAMMA ISOFORMPPP2R2C4p16.1Autism spectrum
PROTOCADHERIN 10PCDH104q28.3Autism spectrum
Pseudohypoaldosteronism type IIECUL32q36.2Autism spectrum
Psychomotor retardation epilepsy and craniofacial dysmorphismSNIP11p34.3Epilepsy and seizures
PURA syndromePURA5q31.3Epilepsy and seizures
PURA syndromePURA5q31.3Epilepsy and seizures
Purine nucleoside phosphorylase deficiencyPNP14q11.2Ataxia spectrum
Pyridoxal 5`-phosphate-dependent epilepsyPNP017q21.32Bradycardia (<60 beats/minute)
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCYPNPOD17q21.32Autism spectrum
Pyridoxine-dependent epilepsyALDH7A15q23.2Epilepsy and seizures
Pyruvate dehydrogenase deficiencyDLAT11q23.1Ataxia spectrum
Pyruvate dehydrogenase deficiencyPDHA123p22.12Ataxia spectrum
Pyruvate dehydrogenase deficiencyPDHB3p14.3Ataxia spectrum
Pyruvate dehydrogenase deficiencyPDHX11p13Ataxia spectrum
Pyruvate dehydrogenase deficiencyPDP18q22.1Ataxia spectrum
Pyruvate kinase deficiencyPKLR1q21Tachycardia (>100 beats/minute)


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