2q31.3-q36.1CNV Type: Duplication
Largest CNV size: N/A bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A large duplication encompassing this region was identified in a patient with autism and intellectual disability (Stobbe et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
N/A
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
stobbe_13_ASD_discovery_cases-case26
22 yrs.
M
Autism and intellectual disability
Preauricular pit and tags, nonverbal. Negative family history. Karyotype: abnormal [dup(2)(q31.3q36.1)]. Fragile X testing: not performed.
Intellectual disability; IQ 44
N/A
N/A
N/A
NCBI36
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
stobbe_13_ASD_discovery_cases-case26
Unknown
Unknown (possible simplex)
Unknown
Estimated gene content: PPP1R1C,PDE1A,DNAJC10,FRZB,NCKAP1,DUSP19,NUP35,ZNF804A,FSIP2,ZC3H15,ITGAV,FAM171B,ZSWIM2,CALCRL,TFPI,GULP1,DIRC1,COL3A1,COL5A2,WDR75,SLC40A1,ASNSD1,ANKAR,OSGEPL1,ORMDL1,PMS1,MSTN,C2orf88,HIBCH,INPP1,MFSD6,TMEM194B,NAB1,GLS,STAT1,STAT4,MYO1B,NABP1,SDPR,TMEFF2,SLC39A10,DNAH7,STK17B,HECW2,CCDC150,GTF3C3,C2orf66,PGAP1,ANKRD44,SF3B1,COQ10B,HSPD1,HSPE1-MOB4,HSPE1,MOB4,RFTN2,MARS2,BOLL,PLCL1,SATB2,C2orf69,TYW5,C2orf47,SPATS2L,KCTD18,SGOL2,AOX1,BZW1,CLK1,PPIL3,NIF3L1,ORC2,FAM126B,NDUFB3,CFLAR,CASP10,CASP8,ALS2CR12,TRAK2,STRADB,ALS2CR11,TMEM237,MPP4,ALS2,CDK15,FZD7,LOC100652824,SUMO1,NOP58,BMPR2,FAM117B,ICA1L,WDR12,CARF,NBEAL1,CYP20A1,ABI2,RAPH1,CD28,CTLA4,ICOS,PARD3B,NRP2,INO80D,NDUFS1,EEF1B2,GPR1,ZDBF2,ADAM23,LOC200726,DYTN,MDH1B,FASTKD2,CPO,KLF7,CREB1,METTL21A,CCNYL1,FZD5,PLEKHM3,CRYGD,CRYGC,CRYGB,CRYGA,C2orf80,IDH1,PIKFYVE,PTH2R,MAP2,UNC80,RPE,KANSL1L,ACADL,MYL1,LANCL1,CPS1,ERBB4,IKZF2,LOC100130451,SPAG16,VWC2L,BARD1,ABCA12,ATIC,FN1,MREG,PECR,TMEM169,XRCC5,MARCH4,SMARCAL1,RPL37A,IGFBP2,IGFBP5,TNP1,TNS1,RUFY4,CXCR2,CXCR1,ARPC2,GPBAR1,AAMP,PNKD,TMBIM1,C2orf62,SLC11A1,CTDSP1,VIL1,USP37,RQCD1,PLCD4,ZNF142,BCS1L,RNF25,STK36,TTLL4,CYP27A1,PRKAG3,WNT6,WNT10A,CDK5R2,FEV,CRYBA2,CCDC108,IHH,NHEJ1,SLC23A3,CNPPD1,FAM134A,ZFAND2B,ABCB6,ATG9A,ANKZF1,GLB1L,STK16,TUBA4A,DNAJB2,PTPRN,RESP18,DNPEP,DES,SPEG,GMPPA,ASIC4,CHPF,TMEM198,OBSL1,INHA,STK11IP,SLC4A3
Controls
No Control Data Available
No Animal Model Data Available