Names of Genes on Chromosome 3

Gene Location Syndrome Category
CHMP2Bp11.2ALSALS - amyotrophic lateral sclerosis
FLJ20518p12.3Autism 18 (AUTS18)Autism spectrum
GBE1p12.3Glycogen storage disease type IV (GSD IV)Arthrogryposis spectrum
LOC401074p12.3Autism 18 (AUTS18)Autism spectrum
MIR1324p12.3Autism 18 (AUTS18)Autism spectrum
MIR4273p12.3Autism 18 (AUTS18)Autism spectrum
ZNF717p12.3Autism 18 (AUTS18)Autism spectrum
FOXP1p13Mental retardation with language impairmentAutism spectrum
PROK2p13Kallmann syndrome types 1 and 2Cleft lip / cleft palate
ATXN7p14.1Autosomal dominant cerebellar ataxiasAtaxia spectrum
PRICKLE2p14.1progressive myoclonic epilepsy 5Epilepsy and seizures
CACNA1Dp14.3Sinoatrial node dysfunctionBradycardia (<60 beats/minute)
FNLBp14.3Thyroid disordersHypothyroidism
PDHBp14.3Pyruvate dehydrogenase deficiencyAtaxia spectrum
PXKp14.3Rheumatoid arthritisArthritis
SCN5Ap21Sick sinus syndromeBradycardia (<60 beats/minute)
CACNA2D3p21.1Autism 18 (AUTS18)Autism spectrum
DOCK3p21.2Alzheimer - late onsetAlzheimer Syndrome
GLYCTKp21.2D-GLYCERIC ACIDURIAAutism spectrum
AMTp21.31GLYCINE ENCEPHALOPATHYAutism spectrum
CCR5p21.31Type 1 DiabetesDiabetes
DAG1p21.31Walker-Warburg syndromeMicrophthalmia
FYCO1p21.31Cataract 18 multiple types(CTRCT18)Cataracts
GPX1p21.31Glutathione peroxidase deficiencyPervasive Developmental Delay
LARS2p21.31Perrault syndromeAtaxia spectrum
LLSp21.31LUSCAN-LUMISH SYNDROMEAutism spectrum
NEDMIALp21.31NEURODEVELOPMENTAL DISORDER 12Autism spectrum
NPRL2p21.31Familial focal epilepsy with variable fociEpilepsy and seizures
QARSp21.31Microcephaly progressive with seizures cerebral/cerebellar atrophy (MSCCA)Microcephaly
SETD2p21.31Huntington`s diseaseHuntington`s disease spectrum
TDGF1p21.31Microcephaly - otherMicrocephaly
TREX1p21.31Aicardi-Goutieres SyndromeAutism spectrum
TREX1p21.31Microcephaly - otherMicrocephaly
VERBRASp21.31VERVERI-BRADY SYNDROMEAutism spectrum
ABHD5p21.33Chanarin-Dorfman syndrome type 1Ataxia spectrum
ABHD5p21.33Chanarin-Dorfman syndrome type 2Cataracts
TGFBR2p22Loeys-Dietz syndromeAsthma
ANO10p22.1Spinocerebellar ataxia autosomal recessive type 10Ataxia spectrum
CTNNB1p22.1CATENIN BETA-1Autism spectrum
NEDSDVp22.1NEURODEVELOPMENTAL DISORDER 13Autism spectrum
POMGNT2p22.1Walker-Warburg syndromeMicrophthalmia
ACVR2Bp22.2heterotaxy syndromeHeterotaxy
MYD88p22.2Waldenström macroglobulinemiaAtaxia spectrum
SCN10Ap22.2Small fiber neuropathyTachycardia (>100 beats/minute)
EOMESp24.1Zaki-Gleeson syndromeAutism spectrum
RARBp24.2Thyroid disordersHypothyroidism
THRBp24.2Generalized thyroid hormone resistanceTachycardia (>100 beats/minute)
TOP2Bp24.2TOPOISOMERASE DNA II BETAAutism spectrum
TOPBp24.2Ataxia-telangiectasiaAtaxia spectrum
SGOL1p24.3Chronic atrial dysrhythmiaBradycardia (<60 beats/minute)
ASPG4p24-21Asperger syndrome - classicalAsperger`s
SYN2p25Abnormal presynaptic function disorderAutism spectrum
BTDp25.1Biotinidase deficiencyAlopecia
TMEM43p25.1Arrhythmogenic right ventricular cardiomyopathyTachycardia (>100 beats/minute)
WNT7Ap25.1ALSALS - amyotrophic lateral sclerosis
XPCp25.1XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP CAutism spectrum
PPARGp25.2Familial partial lipodystrophyDiabetes
PPARGp25.2Type 2 DiabetesDiabetes
RAF1p25.2Noonan syndromeAutism spectrum
TSEN2p25.2Pontocerebellar hypoplasiaMicrocephaly
CIDECp25.3Familial partial lipodystrophyDiabetes
CIDECp25.3Type 2 DiabetesDiabetes
CRELD1p25.3heterotaxy syndromeHeterotaxy
FANCD2p25.3Microcephaly - otherMicrocephaly
MAEp25.3MYOCLONIC-ATONIC EPILEPSYAutism spectrum
MRD23p25.3MENTAL RETARDATION AUTOSOMAL DOMINANT 23Autism spectrum
SETD5p25.3Mental retardation autosomal dominant 23 (MRD23)Autism spectrum
SLC6A1p25.3Myoclonic epilepsy with ragged-red fibers (MERRF)Epilepsy and seizures
VHLp25.3Von Hippel-Lindau syndromeAtaxia spectrum
ITPR1p26.1Spinocerebellar ataxia type 15Ataxia spectrum
ITPR1p26.1Gillespie syndromeAtaxia spectrum
ITPR1p26.1Spinocerebellar ataxia type 29Ataxia spectrum
MRT2p26.2MENTAL RETARDATION AUTOSOMAL RECESSIVE 2Autism spectrum
TRNT1p26.2TRNT1 deficiencyAtaxia spectrum
CNTN4p26.33p deletion syndromeAutism spectrum
PCH11q12.1-2PONTOCEREBELLAR HYPOPLASIA TYPE 11Autism spectrum
PRIMSq13.31Primrose syndromeAutism spectrum
ZBTB20q13.31Primrose syndromeAutism spectrum
IQCB1q13.33Leber congenital amaurosisPhotophobia - sensitivity to light
ADCY5q21.1ADCY5-related dyskinesiaPanic phobia anxiety
ADCY5q21.1Type 2 DiabetesDiabetes
HSPBAP1q21.1intractable epilepsyEpilepsy and seizures
KALRNq21.1Huntington`s diseaseHuntington`s disease spectrum
ALG1L2q22.1Autism 18 (AUTS18)Autism spectrum
BFSP2q22.1Cataract 12 multiple types (CTRCT12)Autism spectrum
BFSP2q22.1Juvenile-onset progressive cataractsCataracts
FAM86HPq22.1Autism 18 (AUTS18)Autism spectrum
TRHq22.1Hypothalamic hypothyroidismHypothyroidism
FOXL2q22.3Microcephaly - otherMicrocephaly
MRD47q22.3MENTAL RETARDATION AUTOSOMAL DOMINANT 47Autism spectrum
RASA2q23Noonan syndromeAutism spectrum
AGTR1q24Type 1 DiabetesDiabetes
AUTS16q24AUTISMAutism spectrum
C3ORF58q24CHROMOSOME 3 OPEN READING FRAME 58Autism spectrum
CRS6q24CRANIOSYNOSTOSIS 6Autism spectrum
HPS3q24Hermansky-Pudlak syndromeIrritable Bowel Disorders
SLC9A9q24Autism 16 with epilepsy (AUTS16)Autism spectrum
ZIC1q24ZIC FAMILY MEMBER 1Autism spectrum
ZIC4q24heterotaxy syndromeHeterotaxy
CPq24-5AceruloplasminemiaAtaxia spectrum
MBNL1q25.1Dystrophia myotonica 1 (DM1)Cataracts
MBNL1q25.1Corneal dystrophy Fuchs endothelial 3 (FECD3)Cataracts
MRT70q25.32INTELLECTUAL DEVELOPMENTAL DISORDER AUTOSOMAL RECESSIVE 70Autism spectrum
ASPG1q25-27Asperger syndrome - classicalAsperger`s
AUTS8q25-q27AUTISMAutism spectrum
SERPINI1q26.1Familial encephalopathy with neuroserpin inclusion bodiesEpilepsy and seizures
SLC2A2q26.2Type 2 DiabetesDiabetes
NLGN1q26.31NEUROLIGIN 1Autism spectrum
MRD41q26.32MENTAL RETARDATION AUTOSOMAL DOMINANT 41Autism spectrum
TBL1XR1q26.32TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1Autism spectrum
DCUN1D1q26.33DCN1 DOMAIN-CONTAINING PROTEIN 1Autism spectrum
DNAJC19q26.33Dilated cardiomyopathy with ataxia syndromeAtaxia spectrum
SOX2q26.33Microphthalmia syndromic 6 (MCOPS6)Microphthalmia
CLCN2q27.1Juvenile myoclonic epilepsyEpilepsy and seizures
CLCN2q27.1CLCN2-related leukoencephalopathyAtaxia spectrum
EIF4G1q27.1Parkinson disease 18Parkinsonism
MCCC1q27.13-methylcrotonyl-CoA carboxylase deficiencyReye`s Syndrome-like diseases
IGF2BP2q27.2Gestational diabetesDiabetes
LIPHq27.2Autosomal recessive hypotrichosisAlopecia
CRYGSq27.3Cataract 20 multiple types (CTRCT20)Cataracts
MASP1q27-28Michels syndromeCleft lip / cleft palate
P3H2q28Severe myopia with cataract and vitreoretinal degeneration (MCVD)Cataracts
TP63q28Ankyloblepharon-ectodermal defects-cleft lip/palate syndromeCleft lip / cleft palate
EIEE47q28-q29EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 47Autism spectrum
DLG1q293q29 microdeletion syndromeAutism spectrum
DLG3q293q29 microdeletion syndromeAutism spectrum
OPA1-bothq29Behr syndromeAtaxia spectrum
OPA1-oneq29Optic atrophy type 01Ataxia spectrum
PAK2q293q29 microdeletion syndromeAutism spectrum
PAK3q293q29 microdeletion syndromeAutism spectrum
RPL35Aq29Diamond-Blackfan anemiaCleft lip / cleft palate
RPL35Aq29Microcephaly - otherMicrocephaly
RUBCNq29Spinocerebellar ataxia autosomal recessive type 15Ataxia spectrum
TNK2q29TYROSINE KINASE NONRECEPTOR 2Autism spectrum


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