Names of Genes on Chromosome 16

Gene Location Syndrome Category
SRCAPp11.12Floating-Harbor syndromeAutism spectrum
AUTS14Ap11.2AUTS14A - 16p11.2 deletion syndromeAutism spectrum
AUTS14Bp11.2AUTS14B replication syndromeAutism spectrum
BCKDKp11.2Branched-chain ketoacid dehydrogenase kinase deficiencyAutism spectrum
BCKDKDp11.2BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCYAutism spectrum
FUSp11.2ALSALS - amyotrophic lateral sclerosis
GEFSP9p11.2GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS TYPE 9Autism spectrum
KCTD13p11.2POTASSIUM CHANNEL TETRAMERIZATION DOMAIN-CONTAINING PROTEIN 13Autism spectrum
SETD1Ap11.2SET DOMAIN-CONTAINING PROTEIN 1AAutism spectrum
STX1Bp11.2Genetic epilepsy with febrile seizures plusAtaxia spectrum
STX1Bp11.2Genetic epilepsy with febrile seizures plusEpilepsy and seizures
IL4Rp11.2-12.1Asthma-related traits (ASRT)Asthma
CRYMp12.2Thyroid disordersHypothyroidism
PALB2P12.2Microcephaly - otherMicrocephaly
COQ7P12.3Primary coenzyme Q10 deficiencyAtaxia spectrum
ADHD1p13ATTENTION DEFICIT-HYPERACTIVITY DISORDERAutism spectrum
GRIN2Ap13EPILEPSY FOCAL WITH SPEECH DISORDERAutism spectrum
NDE1p13.11Microcephaly - otherMicrocephaly
CLEC16Ap13.13insulin-dependent diabetes mellitusDiabetes
ABATp13.2GABA-transaminase deficiencyEpilepsy and seizures
TMEM114p13.2Congenital and juvenile cataractsCataracts
ALG1p13.3ALG1-congenital disorder of glycosylationAtaxia spectrum
CACNA1Hp13.3childhood absence epilepsy 6Encephalitis
CAFDADDp13.3CARDIAC FACIAL AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAYAutism spectrum
CREBBPp13.3Rubinstein-Taybi syndromeAutism spectrum
FFEVF3p13.3EPILEPSY FAMILIAL FOCAL WITH VARIABLE FOCI 3Autism spectrum
HBA1p13.3Alpha thalassemiaMicrocephaly
HBA2p13.3Alpha thalassemiaMicrocephaly
IFT140p13.3Mainzer-Saldino syndromeAtaxia spectrum
IGFALSp13.3ALSALS - amyotrophic lateral sclerosis
MKHK1p13.3MENKE-HENNEKAM SYNDROME 1Autism spectrum
NEDBAp13.3NEURODEVELOPMENTAL DISORDER 07Autism spectrum
NPRL3p13.3Familial focal epilepsy with variable fociEpilepsy and seizures
RBFOX1p13.3RNA-BINDING PROTEIN FOX1Autism spectrum
RSTS1p13.3RUBINSTEIN-TAYBI SYNDROME 1Autism spectrum
SLX4p13.3Microcephaly - otherMicrocephaly
STUB1p13.3Spinocerebellar ataxia autosomal recessive type 16Ataxia spectrum
TBC1D24p13.3Thyroid disordersHypothyroidism
TBC1D24p13.3Microcephaly - otherMicrocephaly
TRAF7p13.3TNF RECEPTOR-ASSOCIATED FACTOR 7Autism spectrum
TSC2p13.3Tuberous sclerosis complexAutism spectrum
VPS35q11.2Parkinson disease type 17 Parkinsonism 
ORC6q12Meier-Gorlin syndromeMicrocephaly
CBLN1q12.1PRECEREBELLIN 1Autism spectrum
NOD2q12.1Crohn DiseaseIrritable Bowel Disorders
NOD2q12.1Blau syndromePhotophobia - sensitivity to light
TOX3q12.1Restless legs syndromeSleep disorders
FTOq12.2Type 2 DiabetesDiabetes
SLC6A2q12.2Orthostatic intolerance syndromeTachycardia (>100 beats/minute)
SEMDFAq13SPONDYLOEPIMETAPHYSEAL DYSPLASIA FADEN-ALKURAYA TYPEAutism spectrum
BEAN1q21Spinocerebellar ataxia type 31Ataxia spectrum
CDH8q21CADHERIN 8Autism spectrum
COQ9q21Primary coenzyme Q10 deficiencyAtaxia spectrum
TK2q21Progressive external ophthalmoplegiaAtaxia spectrum
DHODHq22Miller syndromeCleft lip / cleft palate
AARSq22.1Epileptic encephalopathy early infantile 29 (EIEE29)Autism spectrum
CTCFq22.1CCCTC-BINDING FACTORAutism spectrum
MRD21q22.1MENTAL RETARDATION AUTOSOMAL DOMINANT 21Autism spectrum
HPq22.2Crohn DiseaseIrritable Bowel Disorders
TATq22.2Tyrosinemia type 02Ataxia spectrum
FA2Hq23Fatty acid hydroxylase-associated neurodegeneration (FAHN)Cerebral palsy
WWOXq23.1-2Spinocerebellar ataxia autosomal recessive type 12Ataxia spectrum
CTRCT21q23.2CATARACT 21 MULTIPLE TYPESAutism spectrum
GANq23.2Giant axonal neuropathyAtaxia spectrum
GCSHq23.2GLYCINE ENCEPHALOPATHYAutism spectrum
MAFq23.2Cataract 21 multiple types (CTRCT21)Cataracts
IRF8q24.1Rheumatoid arthritisArthritis
JPH3q24.2Huntington disease-like syndrome type 2Huntington`s disease spectrum
ACSF3q24.3Combined malonic and methylmalonic aciduria (CMAMMA)Microcephaly
ANKRD11q24.3KBG SyndromeAutism spectrum
CDT1q24.3Meier-Gorlin syndromeMicrocephaly
CHMP1Aq24.3Pontocerebellar hypoplasiaMicrocephaly
FANCAq24.3Microcephaly - otherMicrocephaly
MCR1q24.3Oculocutaneous albinism type 1Photophobia - sensitivity to light
SPG7q24.3Progressive external ophthalmoplegiaAtaxia spectrum


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