Names of Genes on Chromosome 18

Gene Location Syndrome Category
AFG3L2p11.21Progressive external ophthalmoplegiaAtaxia spectrum
CIDEAp11.21Type 2 DiabetesDiabetes
PTPN2p11.21Ulcerative colitisIrritable Bowel Disorders
PIEZO2p11.22Distal arthrogryposis type 3Arthrogryposis spectrum
TGIF1p11.3Nonsyndromic holoprosencephalyCleft lip / cleft palate
PTBHSp11.31PORETTI-BOLTSHAUSER SYNDROMEAutism spectrum
TGIF1p11.31Microcephaly - otherMicrocephaly
LAMA3q11.2JEB Junctional epidermolysis bullosaAlopecia
NPC1q11.2Niemann-Pick diseaseAtaxia spectrum
IER3IP1q12Microcephaly epilepsy and diabetes syndromeMicrocephaly
ASXL3q12.1Thyroid disordersHypothyroidism
ASXL3q12.1Bainbridge-Ropers syndromeAutism spectrum
BRPSq12.1Bainbridge-Ropers syndromeAutism spectrum
DSC2q12.1Arrhythmogenic right ventricular cardiomyopathyTachycardia (>100 beats/minute)
DSG2q12.1Arrhythmogenic right ventricular cardiomyopathyTachycardia (>100 beats/minute)
DSG4q12.1Autosomal recessive hypotrichosisAlopecia
TTRq12.1Transthyretin amyloidosisAtaxia spectrum
MRD29q12.3MENTAL RETARDATION AUTOSOMAL DOMINANT 29Autism spectrum
SETBP1q12.3Schinzel-Giedion syndromeAutism spectrum
CFAP53q21.1heterotaxy syndromeHeterotaxy
KATNAL2q21.1Autism 16 with epilepsy (AUTS16)Autism spectrum
MBD1q21.1METHYL-CpG-BINDING DOMAIN PROTEIN 1Autism spectrum
SMAD2q21.1heterotaxy syndromeHeterotaxy
SMAD4q21.1Myhre syndromeCleft lip / cleft palate
TCF4q21.1Pitt-Hopkins syndromeAutism spectrum
MYHRSq21.2Myhre syndromeCleft lip / cleft palate
TCF4q21.2Microcephaly - otherMicrocephaly
CCBE1q21.32Microcephaly - otherMicrocephaly
CCE1q21.32Hennekam syndromeAutism spectrum
MCOP3q21.32MICROPHTHALMIA ISOLATED 3Autism spectrum
RAXq21.32Microphthalmia syndromic 6 (MCOPS6)Microphthalmia
ZNF407q22.3ZINC FINGER PROTEIN 407Autism spectrum
CTDP1q23Congenital cataracts facial dysmorphism and neuropathyCataracts
TXNL4Aq23Burn-McKeown syndromeCleft lip / cleft palate


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