Names of Genes on Chromosome 20

Gene Location Syndrome Category
ABHD12p11.21Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC)Cataracts
CST3p11.21hereditary cerebral amyloid angiopathyAlzheimer Syndrome
RIN2p11.23Macrocephaly with alopecia and cutis laxa and scoliosis (MACS syndrome)Alopecia
SEC23Bp11.23Type 1 DiabetesDiabetes
PLCB4p12Auriculo-condylar syndromeCleft lip / cleft palate
BFSP1p12.1Cataract 33 multiple types (CTRCT33)Cataracts
PROKR2p12.3Kallmann syndrome types 1 and 2Cleft lip / cleft palate
CD40p12-13.2Alzheimer - late onsetAlzheimer Syndrome
ADAM33p13Asthma-related traits (ASRT)Asthma
AVPp13neurohypophyseal diabetes insipidusDiabetes
NOP56p13Spinocerebellar ataxia type 36Ataxia spectrum
OCNDSp13OKUR-CHUNG NEURODEVELOPMENTAL SYNDROMEAutism spectrum
PRNPp13Huntington disease-like syndrome type 1Huntington`s disease spectrum
PRNPp13Wilson Disease - copperCopper metabolism defects
PRNPp13Wilson diseasePanic phobia anxiety
SLC52A3p13Brown-Vialetto-Van Laere syndrome (BVVLS)Cerebral palsy
TGM6p13Spinocerebellar ataxia type 35Ataxia spectrum
WARBM4p13WARBURG MICRO SYNDROME 4Autism spectrum
CHMP4Bq11.22Cataract 31 multiple types (CTRCT31)Cataracts
SAMHD1q11.23Microcephaly - otherMicrocephaly
SAMHD1q11.23Aicardi-Goutieres SyndromeAutism spectrum
TOP1q12TOPOISOMERASE DNA IAutism spectrum
ADAq13.12ADENOSINE DEAMINASEAutism spectrum
CD40q13.12Rheumatoid arthritisArthritis
CD40q13.12Graves disease - overactive thyroidHyperthyroidism
CTSAq13.12GalactosialidosisAtaxia spectrum
HNF4Aq13.12Congenital hyperinsulinismDiabetes
HNF4Aq13.12Type 2 DiabetesDiabetes
HNF4Aq13.12Type 1 DiabetesDiabetes
SLC2A10q13.12Type 2 DiabetesDiabetes
ZNF335q13.12Microcephaly 10 primary autosomal recessive (MCPH10)Microcephaly
ADNPq13.13Helsmoortel-van der Aa syndromeAutism spectrum
ARFGEF2q13.13Periventricular heterotopiaMicrocephaly
KCNB1q13.13Epileptic encephalopathy early infantile 26Epilepsy and seizures
GNASq13.3McCune-Albright syndromeTachycardia (>100 beats/minute)
GNASq13.32McCune-Albright syndrome (overactive thyroid)Hyperthyroidism
VAPBq13.32ALSALS - amyotrophic lateral sclerosis
CHRNA4q13.33Autosomal dominant nocturnal frontal lobe epilepsyEpilepsy and seizures
DNAJC5q13.33CLN4 diseaseAtaxia spectrum
EEF1A2q13.33EUKARYOTIC TRANSLATION ELONGATION FACTOR 1 ALPHA-2Autism spectrum
EIEE33q13.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 33Autism spectrum
KCNQ2q13.33Benign familial neonatal seizuresEpilepsy and seizures
MRD38q13.33MENTAL RETARDATION AUTOSOMAL DOMINANT 38Autism spectrum


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