Names of Genes on Chromosome 19

Gene Location Syndrome Category
CERS1p13.11progressive myoclonic epilepsy 8Epilepsy and seizures
GDF1p13.11heterotaxy syndromeHeterotaxy
MPPH1p13.11MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1Autism spectrum
MYO9Bp13.11Ulcerative colitisIrritable Bowel Disorders
PIK3R2p13.11Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAutism spectrum
SLC5A5p13.11Congenital hypothyroidismHypothyroidism
TM6SF2p13.11Non-alcoholic fatty liver diseaseDiabetes
CASP14p13.12NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
CYP4F22p13.12NBCIE Nonbullous congenital ichthyosiform erythrodermaAlopecia
CYP4F22p13.12Lamellar ichthyosisAlopecia
MRT3p13.12MENTAL RETARDATION AUTOSOMAL RECESSIVE 3Autism spectrum
NOTCH3p13.12Cerebral autosomal dominant arteriopathy (CADASIL)Epilepsy and seizures
CACNA1Ap13.13Spinocerebellar ataxia type 06Ataxia spectrum
CACNA1Ap13.13Episodic ataxiaAtaxia spectrum
EIEE42p13.13EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 42Autism spectrum
MAN2B1p13.13Alpha-mannosidosisPanic phobia anxiety
MAN2B1p13.13Alpha-mannosidosis type 1Ataxia spectrum
MAN2B1p13.13Alpha-mannosidosis type 2Cataracts
MAST1p13.13MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE 1Autism spectrum
MCCCHCMp13.13MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIAAutism spectrum
NECFMp13.13NEURODEVELOPMENTAL DISORDER 05Autism spectrum
RNASEH2Ap13.13Microcephaly - otherMicrocephaly
SOTOS2p13.13SOTOS SYNDROME 2Autism spectrum
ACP5p13.2Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)Hypothyroidism
ANGPTL4p13.2Type 2 DiabetesDiabetes
CD320p13.2Methylmalonic aciduria - transient - due to transcobalamin receptor defectVitamin B12 metabolism spectrum
DNMT1p13.2Autosomal dominant cerebellar ataxia deafness and narcolepsyAtaxia spectrum
INSRp13.2Rabson-Mendenhall syndromeDiabetes
PNPLA6p13.2Gordon Holmes syndromeAtaxia spectrum
RETNp13.2Type 2 DiabetesDiabetes
RNASEH2Ap13.2Aicardi-Goutieres SyndromeAutism spectrum
SMARCA4p13.2Microcephaly - otherMicrocephaly
TYK2p13.2Crohn DiseaseIrritable Bowel Disorders
TYK2p13.2Rheumatoid arthritisArthritis
ABCA7p13.3Alzheimer - late onsetAlzheimer Syndrome
AP3D1p13.3Hermansky-Pudlak syndromeIrritable Bowel Disorders
ATCAYp13.3Cerebellar ataxia cayman typeAtaxia spectrum
CCDS2p13.3CEREBRAL CREATINE DEFICIENCY SYNDROME 2Autism spectrum
CLPPp13.3Perrault syndromeAtaxia spectrum
GAMTp13.3Guanidinoacetate methyltransferase deficiencyAutism spectrum
MAP2K2p13.3Noonan syndromeAutism spectrum
MAP2K2p13.3Cardiofaciocutaneous syndromeAutism spectrum
PIP5K1Cp13.3Lethal arthrogryposis with anterior horn cell diseaseArthrogryposis spectrum
SOTOS3p13.3SOTOS SYNDROME 3Autism spectrum
TUBB4Ap13.3TUBB4A-related leukodystrophyAtaxia spectrum
MEGF8q12Carpenter SyndromeAutism spectrum
TSHZ3q12TSHZ3 haploinsufficiencyAutism spectrum
GPIq13.1Glucose phosphate isomerase deficiencyTachycardia (>100 beats/minute)
SCN1Bq13.11Genetic epilepsy with febrile seizures plusEpilepsy and seizures
SCN1Bq13.11Genetic epilepsy with febrile seizures plusAtaxia spectrum
SLC7A9q13.11CYSTINURIA TYPE AAutism spectrum
WDR62q13.12Autosomal recessive primary microcephalyMicrocephaly
SIPA1L3q13.13Cataract 45 (CTRCT45)Cataracts
AKT2q13.2Familial partial lipodystrophyDiabetes
APOEq13.2Alzheimer - late onsetAlzheimer Syndrome
ATP1A3q13.2Rapid-onset dystonia parkinsonismPanic phobia anxiety
CAPOSq13.2CEREBELLAR ATAXIA AREFLEXIA PES CAVUS OPTIC ATROPHY AND HEARING LOSSAutism spectrum
COQ8Bq13.2Primary coenzyme Q10 deficiencyAtaxia spectrum
LIPEq13.2Familial partial lipodystrophyDiabetes
MRD45q13.2MENTAL RETARDATION AUTOSOMAL DOMINANT 45Autism spectrum
PLD3q13.2Alzheimer - late onsetAlzheimer Syndrome
RPS19q13.2Microcephaly - otherMicrocephaly
RPS19q13.2Diamond-Blackfan anemiaCleft lip / cleft palate
RYR1q13.2Multiminicore diseaseArthrogryposis spectrum
CICq13.2Autism 18 (AUTS18)Autism spectrum
PNKPq13.3-13.4Microcephaly seizures and developmental delay (MCSZ)Microcephaly
BLOC1S3q13.32Hermansky-Pudlak syndromeIrritable Bowel Disorders
DMPKq13.32Arthrogryposis - otherArthrogryposis spectrum
ERCC1q13.32Cerebro-oculo-facio-skeletal syndrome 4 (COFS4)Arthrogryposis spectrum
FKRPq13.32Walker-Warburg syndromeMicrophthalmia
MRT41q13.32MENTAL RETARDATION AUTOSOMAL RECESSIVE 41Autism spectrum
OPA3-bothq13.32Costeff syndromeCataracts
OPA3-oneq13.32Autosomal dominant optic atrophy and cataract (ADOAC)Cataracts
CRXq13.33Leber congenital amaurosisPhotophobia - sensitivity to light
EIEE46q13.33EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE 46Autism spectrum
FTLq13.33Hyperferritinemia-cataract syndromeCataracts
PNKPq13.33Ataxia with oculomotor apraxiaAtaxia spectrum
RRASq13.33Noonan syndromeAutism spectrum
SHANK1q13.33SH3 AND MULTIPLE ANKYRIN REPEAT DOMAINS 1Autism spectrum
TRPM4q13.33Progressive familial heart blockBradycardia (<60 beats/minute)
TSEN34q13.4Pontocerebellar hypoplasiaMicrocephaly
LIM2q13.41Cataract 19 multiple types (CTRCT19)Cataracts
CNOT3q13.42Autism 18 (AUTS18)Autism spectrum
MBOAT7q13.42Mental retardation autosomal recessive 57Autism spectrum
MBOAT7q13.42Non-alcoholic fatty liver diseaseDiabetes
MRT57q13.42Mental retardation autosomal recessive 57Autism spectrum
PRKCGq13.42Spinocerebellar ataxia type 14Ataxia spectrum
NLRP5q13.43NLR FAMILY PYRIN DOMAIN-CONTAINING 5Autism spectrum


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