Names of Genes on Chromosome 13

Gene Location Syndrome Category
trisomyallPatau syndromeCleft lip / cleft palate
ALOX5APq12Leukotriene C4 synthase deficiencyAsthma
GJA3q12.11Zonular pulverulent cataract type 3 (CZP3)Cataracts
GJB2q12.11Keratitis-ichthyosis-deafness syndromePhotophobia - sensitivity to light
GJB6q12.11Clouston syndromeAlopecia
CENPJq12.12Autosomal recessive primary microcephalyMicrocephaly
MIPEPq12.12Friedreich ataxiaAtaxia spectrum
SACSq12.12Autosomal recessive spastic ataxia of Charlevoix-SaguenayAtaxia spectrum
ATP8A2q12.13Cerebellar ataxia mental retardation and dysequilibrium syndrome type 04Ataxia spectrum
PDX1q12.2Permanent neonatal diabetes mellitusDiabetes
D3S196q12.2-q13Mobius SyndromeAutism spectrum
MBSq12.2-q13MOEBIUS SYNDROMEAutism spectrum
B3GLCTq12.3Peters plus syndromeCleft lip / cleft palate
TRPA1q13Familial episodic pain syndromeTachycardia (>100 beats/minute)
BRCA2q13.1Microcephaly - otherMicrocephaly
FREM2q13.3Fraser syndromeCleft lip / cleft palate
NBEAq13.3Autism 18 (AUTS18)Autism spectrum
LACC1q14.11Ulcerative colitisIrritable Bowel Disorders
LACC1q14.11Crohn DiseaseIrritable Bowel Disorders
SLC25A15q14.11Ornithine translocase deficiencyAtaxia spectrum
HTR2Aq14.2Seasonal affective disorderSleep disorders
ITM2Bq14.2hereditary cerebral amyloid angiopathyAlzheimer Syndrome
LPAR6q14.2Autosomal recessive hypotrichosisAlopecia
AUTS3q14.2-q14.AUTISMAutism spectrum
ATP7Bq14.3Wilson Disease - copperCopper metabolism defects
ATP7Bq14.3Wilson diseasePanic phobia anxiety
RNASEH2Bq14.3Microcephaly - otherMicrocephaly
RNASEH2Bq14.3Aicardi-Goutieres SyndromeAutism spectrum
SLI3q21SPECIFIC LANGUAGE IMPAIRMENT 3Autism spectrum
ATXN8OSq21.33Parkinson disease susceptabilityParkinsonism
ATXN8OSq21.33Spinocerebellar ataxia type 08Ataxia spectrum
TBC1D4q22.2Type 2 DiabetesDiabetes
CLN5q22.3Neuronal ceroid lipofuscinosis disease type 05Ataxia spectrum
HSCR2q22.3HIRSCHSPRUNG DISEASE SUSCEPTIBILITY TO 2Autism spectrum
SLITRK1q31.1Tourette syndromePanic phobia anxiety
ZIC2q32Nonsyndromic holoprosencephalyCleft lip / cleft palate
ZIC2q32.3Microcephaly - otherMicrocephaly
FGF14q33.1Spinocerebellar ataxia type 27Ataxia spectrum
LIG4q33.3Omenn syndromeAlopecia
CARS2q34Combined oxidative phosphorylation deficiency 27Epilepsy and seizures
CHAMP1q34Mental retardation autosomal dominant 40Autism spectrum
COL4A1q34Familial porencephalyMicrocephaly
MRD40q34Mental retardation autosomal dominant 40Autism spectrum


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