Names of Genes on Chromosome 12

Gene Location Syndrome Category
DDX11p11Warsaw breakage syndromeMicrocephaly
PKP2p11Arrhythmogenic right ventricular cardiomyopathyTachycardia (>100 beats/minute)
DNM1Lp11.21Alzheimer - late onsetAlzheimer Syndrome
BHLHE41p12.1Seasonal affective disorderSleep disorders
KRASp12.1Noonan syndromeAutism spectrum
KRASp12.1Cardiofaciocutaneous syndromeAutism spectrum
KRASp12.1Autoimmune lymphoproliferative syndromeGuillain-Barre spectrum
PDE6Hp12.3AchromatopsiaPhotophobia - sensitivity to light
OLR1p12.3-13.2Alzheimer - late onsetAlzheimer Syndrome
CDKN1Bp13.1CYCLIN-DEPENDENT KINASE INHIBITOR 1BAutism spectrum
EIEE27p13.1EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 27Autism spectrum
GRIN2Bp13.1Mental retardation autosomal dominant 06 (MRD6)Autism spectrum
MRD6p13.1MENTAL RETARDATION AUTOSOMAL DOMINANT 6Autism spectrum
ETV6p13.2Acute myeloid leukemiaLeukemia
CACNA1Cp13.3Timothy SyndromeAutism spectrum
EMG1p13.3Bowen-Conradi syndromeCleft lip / cleft palate
A2Mp13.31Alzheimer - late onsetAlzheimer Syndrome
A2ML1p13.31Noonan syndromeAutism spectrum
ATN1p13.31Dentatorubral-pallidoluysian atrophyAtaxia spectrum
C12ORF57p13.31CHROMOSOME 12 OPEN READING FRAME 57Autism spectrum
EMG1p13.31Microcephaly - otherMicrocephaly
FAM86FPp13.31Autism 18 (AUTS18)Autism spectrum
FAM90A1p13.31Autism 18 (AUTS18)Autism spectrum
GDF3p13.31Microphthalmia isolated with coloboma 3 (MCOPCB3)Microphthalmia
LINC00937p13.31Autism 18 (AUTS18)Autism spectrum
MCPH21p13.31MICROCEPHALY 21 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
TEMTYSp13.31TEMTAMY SYNDROMEAutism spectrum
VAMP1p13.31Spastic ataxia autosomal dominant type 01Ataxia spectrum
CCND2p13.32Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAutism spectrum
KCNA1p13.32Episodic ataxiaAtaxia spectrum
MRT66p13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 66Autism spectrum
ERC1p13.33Thyroid disordersHypothyroidism
TSp13.33Timothy SyndromeAutism spectrum
LRRK2q12Crohn DiseaseIrritable Bowel Disorders
LRRk2q12Parkinson disease - otherParkinsonism
PRICKLE1q12PRICKLE1-related progressive myoclonus epilepsy with ataxiaAtaxia spectrum
ERBB3q13Lethal arthrogryposis with anterior horn cell diseaseArthrogryposis spectrum
PHC1q13Microcephaly 11 primary autosomal recessive (MCPH11)Microcephaly
RPS26q13Diamond-Blackfan anemiaCleft lip / cleft palate
VDRq13.11Hereditary vitamin D-resistant rickets type 2Alopecia
MRT25q13.11-q15MENTAL RETARDATION AUTOSOMAL RECESSIVE 25Autism spectrum
ADCY6q13.12Lethal congenital contracture syndrome 8 (LCCS8)Arthrogryposis spectrum
AQP2q13.12Nephrogenic diabetes insipidusDiabetes
KMT2Dq13.12Microcephaly - otherMicrocephaly
LIS3q13.12LISSENCEPHALY 3Autism spectrum
OI15q13.12OSTEOGENESIS IMPERFECTA TYPE XVAutism spectrum
PRPHq13.12ALSALS - amyotrophic lateral sclerosis
TUBA1Aq13.12Microcephaly - otherMicrocephaly
AAASq13.13Microcephaly - otherMicrocephaly
EIEE13q13.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 13Autism spectrum
HNRNPA1q13.13ALSALS - amyotrophic lateral sclerosis
KRT18q13.13Cryptogenic cirrhosisDiabetes
KRT3q13.13Meesmann corneal dystrophyPhotophobia - sensitivity to light
KRT8q13.13Cryptogenic cirrhosisDiabetes
SCN8Aq13.13SCN8A-related epilepsy with encephalopathyEpilepsy and seizures
RPS26q13.2Microcephaly - otherMicrocephaly
SMARCC2q13.2Autism 18 (AUTS18)Autism spectrum
SUOXq13.2Isolated sulfite oxidase deficiencyAtaxia spectrum
KIF5Aq13.3Rheumatoid arthritisArthritis
PIP4K2Cq13.3Rheumatoid arthritisArthritis
STAC3q13.3Native American myopathyArthrogryposis spectrum
AGAP2q14.1Autism 18 (AUTS18)Autism spectrum
AUTS13q14.2AUTISMAutism spectrum
MDDGA10q14.2MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY TYPE A 10Autism spectrum
RXYLT1q14.2Walker-Warburg syndromeMicrophthalmia
TBK1q14.2ALSALS - amyotrophic lateral sclerosis
GRIP1q14.3Fraser syndromeCleft lip / cleft palate
IRAK3q14.3Asthma-related traits 5 (ASRT5)Asthma
IFNGq15TUBEROUS SCLEROSIS 2Autism spectrum
ALX1q21.31Frontonasal dysplasiaCleft lip / cleft palate
CEP290q21.32Leber congenital amaurosisPhotophobia - sensitivity to light
LIS8q21.32LISSENCEPHALY 8Autism spectrum
DCNq21.33Congenital stromal corneal dystrophyPhotophobia - sensitivity to light
CRADDq21.33-23Mental retardation autosomal recessive 34 (MRT34)Autism spectrum
MRT34q22MENTAL RETARDATION AUTOSOMAL RECESSIVE 34 WITH VARIANT LISSENCEPHALYAutism spectrum
MYBPC1q23.2Distal arthrogryposis type 1Arthrogryposis spectrum
PAHq23.2Microcephaly - otherMicrocephaly
PKUq23.2PHENYLKETONURIAAutism spectrum
CRY1q23.3Sleep-wake schedule disorder - delayed phase typeSleep disorders
POLR3Bq23.3Pol III-related leukodystrophyAtaxia spectrum
ANKLE2q24Microcephaly - otherMicrocephaly
CITq24Microcephaly - otherMicrocephaly
ISCUq24.1Hereditary myopathy with lactic acidosisTachycardia (>100 beats/minute)
TBX5q24.1Holt-Oram syndromeBradycardia (<60 beats/minute)
ATP2A2q24.11Darier diseaseEpilepsy and seizures
MMABq24.11methylmalonic acidemiaVitamin B12 metabolism spectrum
MVKq24.11Mevalonate kinase deficiencyMicrocephaly
UBE3Bq24.11Microcephaly - otherMicrocephaly
CUX2q24.11-12CUT-LIKE HOMEOBOX 2Autism spectrum
EIEE67q24.11-12EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 67Autism spectrum
ATXN2q24.12ALSALS - amyotrophic lateral sclerosis
ATXN2q24.12Spinocerebellar ataxia type 02Ataxia spectrum
ATXN2q24.12Parkinson disease susceptabilityParkinsonism
SH2B3q24.12Type 2 DiabetesDiabetes
HECTD4q24.13Autism 18 (AUTS18)Autism spectrum
OAS1q24.13Type 1 DiabetesDiabetes
PTPN11q24.13Thyroid disordersHypothyroidism
PTPN11q24.13Noonan syndromeAutism spectrum
MED13Lq24.21Autism 18 (AUTS18)Autism spectrum
MRFACDq24.21MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURESAutism spectrum
NOS1q24.22NITRIC OXIDE SYNTHASE 1Autism spectrum
MCPH17q24.23MICROCEPHALY 17 PRIMARY AUTOSOMAL RECESSIVEAutism spectrum
ACADSq24.31Short-chain acyl-CoA dehydrogenase (SCAD) deficiencyMicrocephaly
ACADSq24.31Short-chain acyl-CoA dehydrogenase deficiencyReye`s Syndrome-like diseases
HNF1Aq24.31Congenital hyperinsulinismDiabetes
HNF1Aq24.31Type 1 DiabetesDiabetes
HPDq24.31Tyrosinemia type 03Ataxia spectrum


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