Names of Genes on Chromosome 1

Gene Location Syndrome Category
SRGAP2Cp11.2SLIT-ROBO RHO GTPase-ACTIVATING PROTEIN 2CAutism spectrum
NOTCH2p11-13Hajdu-Cheney syndromeCleft lip / cleft palate
PHGDHp12Phosphoglycerate dehydrogenase deficiencyMicrocephaly
GNAI3p13Auriculo-condylar syndromeCleft lip / cleft palate
CASQ2p13.1Catecholaminergic polymorphic ventricular tachycardiaTachycardia (>100 beats/minute)
CD2p13.1Rheumatoid arthritisArthritis
CD58p13.1Rheumatoid arthritisArthritis
HOMGSMR2p13.1HYPOMAGNESEMIA SEIZURESAutism spectrum
AP4B1p13.2Cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorderCerebral palsy
NRASp13.2Noonan syndromeAutism spectrum
NRASp13.2Autoimmune lymphoproliferative syndromeGuillain-Barre spectrum
PTPN22p13.2Type 1 DiabetesDiabetes
PTPN22p13.2Graves disease - overactive thyroidHyperthyroidism
PTPN22p13.2Thyroid disordersHypothyroidism
PTPN22p13.2Rheumatoid arthritisArthritis
SLC16A1p13.2Congenital hyperinsulinismDiabetes
TSHBp13.2Congenital hypothyroidismHypothyroidism
ALX3p13.3Frontonasal dysplasiaCleft lip / cleft palate
AMPD2p13.3Pontocerebellar hypoplasiaMicrocephaly
GNAT2p13.3AchromatopsiaPhotophobia - sensitivity to light
NTNG1p13.3NETRIN G1Autism spectrum
SASS6p21Microcephaly - otherMicrocephaly
SLC35A3p21Arthrogryposis mental retardation and seizures (AMRS)Arthrogryposis spectrum
COL11A1p21.1Fibrochondrogenesis type 1Fibrochondrogenesis
AGLp21.2Glycogen storage disease type IIIHyperlipidemia
AMRSp21.2ARTHROGRYPOSIS MENTAL RETARDATIONAND SEIZURESAutism spectrum
DPYDp21.3Microcephaly - otherMicrocephaly
DPYDp22Dihydropyrimidine dehydrogenase deficiencyAutism spectrum
ABCA4p22.1cone-rod dystrophyPhotophobia - sensitivity to light
DBA6p22.1DIAMOND-BLACKFAN ANEMIA 6Autism spectrum
RPL5p22.1Microcephaly - otherMicrocephaly
RPL5p22.1Diamond-Blackfan anemiaCleft lip / cleft palate
ACADMp31.1Medium-chain acyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
SRSF11p31.1Autism 18 (AUTS18)Autism spectrum
ALG6p31.3ALG6-congenital disorder of glycosylationAtaxia spectrum
DNAJC6p31.3Parkinson disease early onsetParkinsonism
IL23Rp31.3Crohn DiseaseIrritable Bowel Disorders
IL23Rp31.3Ulcerative colitisIrritable Bowel Disorders
RPE65p31.3Leber congenital amaurosisPhotophobia - sensitivity to light
PARK10p32Parkinson disease age at onsetParkinsonism
ORC1p32Meier-Gorlin syndromeMicrocephaly
PPT1p32Infantile neuronal ceroid lipofuscinosisMicrocephaly
STILp32Autosomal recessive primary microcephalyMicrocephaly
FGGYp32.1ALSALS - amyotrophic lateral sclerosis
DHCR24p32.3DesmosterolosisArthrogryposis spectrum
MMACHCp34.1methylmalonic acidemia with homocystinuriaVitamin B12 metabolism spectrum
MMACHCP34.1Microcephaly - otherMicrocephaly
POMGNT1p34.1Walker-Warburg syndromeMicrophthalmia
SLC6A9p34.1GLYCINE ENCEPHALOPATHYAutism spectrum
MCPH15p34.2MICROCEPHALY 15 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MFSD2Ap34.2Microcephaly - otherMicrocephaly
PPT1p34.2CLN1 diseaseEpilepsy and seizures
SLC2A1p34.2Microcephaly - otherMicrocephaly
SLC2A1p34.2Non-epileptic GLUT1 deficiency syndromeAtaxia spectrum
SLC2A1p34.2GLUT1 deficiency syndromeAtaxia spectrum
CONDSIASp34.3NEURODEGENERATION CHILDHOOD-ONSET STRESS-INDUCEDAutism spectrum
POU3F1p34.3Rheumatoid arthritisArthritis
SNIP1p34.3Psychomotor retardation epilepsy and craniofacial dysmorphismEpilepsy and seizures
RPL11p35-36.1Diamond-Blackfan anemiaCleft lip / cleft palate
manyp361p36 monosomyAutism spectrum
AHDC1p36.11Xia-Gibbs syndromeAutism spectrum
ARID1Ap36.11Microcephaly - otherMicrocephaly
GALEp36.11Galactosemia (type III)Galactosemia
HMGCLp36.113-hydroxy-3-methylglutaryl-CoA lyase deficiencyReye`s Syndrome-like diseases
HPMRS1p36.11HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1Autism spectrum
NR0B2p36.11Thyroid disordersHypothyroidism
PIGVp36.11Mabry syndromeAutism spectrum
RPL11p36.11Microcephaly - otherMicrocephaly
SLC9A1p36.11SOLUTE CARRIER FAMILY 9 MEMBER 1Autism spectrum
PINK1p36.12Parkinson disease - other Parkinsonism 
TKSp36.12TAKENOUCHI-KOSAKI SYNDROMEAutism spectrum
WNT4p36.12Cerebral palsy - unassignedCerebral palsy
ATP13A2p36.13Parkinson disease type 9 Parkinsonism 
CROCCp36.13Autism 18 (AUTS18)Autism spectrum
EPHA2P36.13Cataract 06 multiple types (CTRCT6)Cataracts
PADI4p36.13Rheumatoid arthritisArthritis
SDHBp36.13Thyroid disordersHypothyroidism
SEPN1p36.13Multiminicore diseaseArthrogryposis spectrum
CTRCp36.21hereditary pancreatitisDiabetes
NPPAp36.21Atrial standstill 2Bradycardia (<60 beats/minute)
PRAMEF13p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF16p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF19p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF20p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF8p36.21Autism 18 (AUTS18)Autism spectrum
PRAMEF9p36.21Autism 18 (AUTS18)Autism spectrum
MTORp36.22MECHANISTIC TARGET OF RAPAMYCINAutism spectrum
NMNAT1p36.22Leber congenital amaurosisPhotophobia - sensitivity to light
SKSp36.22SMITH-KINGSMORE SYNDROMEAutism spectrum
TARDBPp36.22ALSALS - amyotrophic lateral sclerosis
TNFRSF1Bp36.22NarcolepsySleep disorders
IDDNPFp36.23INTELLECTUAL DEVELOPMENTAL DISORDER 6Autism spectrum
NEDBEHp36.23NEURODEVELOPMENTAL DISORDER 08Autism spectrum
PARK7p36.23Parkinson disease - other Parkinsonism 
PER3p36.23Advanced sleep phase syndrome familial 3 (FASPS3)Sleep disorders
REREp36.23Neurodevelopmental disorder with or without anomalies of the brain eye heartAutism spectrum
CAMTA1P36.23-31CALMODULIN-BINDING TRANSCRIPTION ACTIVATOR 1Autism spectrum
CANPMRp36.23-31CEREBELLAR ATAXIA NONPROGRESSIVE WITH MENTAL RETARDATIONAutism spectrum
MTHFRp36.3Methylenetetrahydrofolate reductase error syndromeCleft lip / cleft palate
CEP104p36.32Joubert syndromeAutism spectrum
TNFRSF14p36.32Rheumatoid arthritisArthritis
GABRDp36.33Genetic epilepsy with febrile seizures plusEpilepsy and seizures
GABRDp36.33Genetic epilepsy with febrile seizures plusAtaxia spectrum
MRD42p36.33MENTAL RETARDATION AUTOSOMAL DOMINANT 42Autism spectrum
NADKp36.33Microcephaly - otherMicrocephaly
TMEM240p36.33Spinocerebellar ataxia type 21Ataxia spectrum
PKLRq21Pyruvate kinase deficiencyTachycardia (>100 beats/minute)
GJA5q21.11q21.1 bradycardiaBradycardia (<60 beats/minute)
GJA8q21.1Cataract 01 multiple types (CTRCT1)Cataracts
ADAMTSL4q21.2Ectopia lentisCataracts
ECM1q21.2Lipoid proteinosisAlopecia
ADARq21.3Aicardi-Goutieres SyndromeAutism spectrum
CHRNB2q21.3Autosomal dominant nocturnal frontal lobe epilepsyEpilepsy and seizures
FLGq21.3Atopic dermatitisAlopecia
IL6Rq21.3Rheumatoid arthritisArthritis
POGZq21.3Mental retardation autosomal dominant 37 (MRD37)Autism spectrum
RFX5q21.3ALSALS - amyotrophic lateral sclerosis
WHSUSq21.3WHITE-SUTTON SYNDROMEAutism spectrum
ASPG3q21-22Asperger syndrome - classicalAsperger`s
CLK2q22CDC-LIKE KINASE 2Autism spectrum
GBAq22Parkinson disease - otherParkinsonism  
LMNAq22Hutchinson-Gilford progeria syndromeAlopecia
LMNAq22Familial partial lipodystrophyDiabetes
LMNAq22Emery-Dreifuss muscular dystrophyBradycardia (<60 beats/minute)
MMYATq22MYOPATHY MITOCHONDRIAL AND ATAXIAAutism spectrum
MRD52q22MENTAL RETARDATION AUTOSOMAL DOMINANT 52Autism spectrum
RIT1q22Noonan syndromeAutism spectrum
ASH1Lq22 Autism 18 (AUTS18)Autism spectrum
FCRL3q23.1Thyroid disordersHypothyroidism
NTRK1q23.1Thyroid disordersHypothyroidism
ATP1A2q23.2Sporadic hemiplegic migraineAtaxia spectrum
FHM2q23.2MIGRAINE FAMILIAL HEMIPLEGIC 2Autism spectrum
KCNJ10q23.2SeSAME syndromeEpilepsy and seizures
CAKUTHEDq23.3CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROMEAutism spectrum
FCGR2Aq23.3Rheumatoid arthritisArthritis
FCGR2Bq23.3Rheumatoid arthritisArthritis
NR1I3q23.3NUCLEAR RECEPTOR SUBFAMILY 1 GROUP I MEMBER 3Autism spectrum
USF1q23.3Hyperlipidemia combined 1Hyperlipidemia
SLC19A2q24.2Type 2 DiabetesDiabetes
FASLGq24.3Autoimmune lymphoproliferative syndromeGuillain-Barre spectrum
DARS2q25.1Leukoencephalopathy with brainstem/spinal cord involvementAtaxia spectrum
RABGAP1Lq25.1Autism 18 (AUTS18)Autism spectrum
LAMC2q25.3JEB Junctional epidermolysis bullosaAlopecia
ASPMq31Autosomal recessive primary microcephalyMicrocephaly
CRB1q31.3Leber congenital amaurosisPhotophobia - sensitivity to light
PTPRCq31.3Rheumatoid arthritisArthritis
CACNA1Sq32Malignant hyperthermiaTachycardia (>100 beats/minute)
CFHq32Atypical hemolytic-uremic syndromeTachycardia (>100 beats/minute)
CHI3L1q32.1Asthma-related traits 7 (ASRT7)Asthma
CNTN2q32.1familial adult myoclonic epilepsy 5Epilepsy and seizures
IL10q32.1Crohn DiseaseIrritable Bowel Disorders
KDM5Bq32.1Autism 16 with epilepsy (AUTS16)Autism spectrum
MCPH20q32.1MICROCEPHALY 20 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
MDM4q32.1MOUSE DOUBLE MINUTE 4 HOMOLOGAutism spectrum
PPP1R15Bq32.1Microcephaly - otherMicrocephaly
LAMB3q32.2JEB Junctional epidermolysis bullosaAlopecia
SYT14q32.2Spinocerebellar ataxia autosomal recessive type 11Ataxia spectrum
FLVCR1q32.3Posterior column ataxia with retinitis pigmentosaAtaxia spectrum
RD3q32.3Leber congenital amaurosisPhotophobia - sensitivity to light
IRF6q32.3-q41Van der Woude syndromeCleft lip / cleft palate
DISP1q41Microcephaly - otherMicrocephaly
KCTD3q41POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 3Autism spectrum
MARK1q41MAP/MICROTUBULE AFFINITY-REGULATING KINASE 1Autism spectrum
TGFB2q41Loeys-Dietz syndromeAsthma
BPNT1q41-a42Fryn`s Syndrome - 1Q41-Q42 microdeletionAutism spectrum
DISP1q41-a42Fryn`s Syndrome - 1Q41-Q42 microdeletionAutism spectrum
AUTS11q41-q42AUTISMAutism spectrum
FHq42.1Fumarase deficiencyMicrocephaly
SKDEASQ42.11-12SKRABAN-DEARDORFF SYNDROMEAutism spectrum
LEFTY2q42.12heterotaxy syndromeHeterotaxy
COQ8AQ42.13Primary coenzyme Q10 deficiencyAtaxia spectrum
GJC2q42.13Pelizaeus-Merzbacher-like disease type 01Ataxia spectrum
PSEN2q42.13Alzheimer - early onsetAlzheimer Syndrome
GNPATq42.2Rhizomelic chondrodysplasia punctata type 2Rhizomelic chondrodysplasia punctata
B3GALNT2q42.3Walker-Warburg syndromeMicrophthalmia
LYSTq42.3Chediak-Higashi syndromeAtaxia spectrum
MTRq43HomocystinuriaVitamin B12 metabolism spectrum
RYR2q43Catecholaminergic polymorphic ventricular tachycardiaTachycardia (>100 beats/minute)
AKT3q43-44Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAutism spectrum
AKT3q44Microcephaly - otherMicrocephaly
COX20q44Cytochrome-c oxidase deficiencyAtaxia spectrum
EIEE54q44EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 54Autism spectrum
HNRNPUq44Epileptic encephalopathy early infantile 54 (EIEE54)Epilepsy and seizures


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