9q33.1-q34.12CNV Type: Deletion
Largest CNV size: 129828 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion spanning this region and involving the ASTN2 gene was identified in a 1-month-old female patient with multiple congenital anomalies (Lionel et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
129828
1
0
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
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case43
1 month
F
Non-NDD
Respiratory problems after birth, hydrops fetalis (not due to isoimmunization), hypocalcemia and hypomagnesemia, cardiomegaly.
118481080
188610907
129828
NCBI36
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case43
FISH
Unknown
ASTN2,TRIM32,TLR4,BRINP1,CDK5RAP2,MEGF9,FBXW2,PSMD5,PHF19,TRAF1,C5,CNTRL,RAB14,GSN,STOM,DAB2IP,TTLL11,NDUFA8,MORN5,LHX6,RBM18,MRRF,PTGS1,OR1J1,OR1J2,OR1J4,OR1N1,OR1N2,OR1L8,OR1Q1,OR1B1,OR1L1,OR1L3,OR1L4,OR1L6,OR5C1,OR1K1,PDCL,RC3H2,ZBTB6,ZBTB26,RABGAP1,GPR21,STRBP,CRB2,DENND1A,LHX2,NEK6,PSMB7,NR5A1,NR6A1,OLFML2A,WDR38,RPL35,ARPC5L,GOLGA1,SCAI,PPP6C,RABEPK,HSPA5,GAPVD1,MAPKAP1,PBX3,MVB12B,LMX1B,ZBTB43,ZBTB34,RALGPS1,ANGPTL2,GARNL3,SLC2A8,ZNF79,RPL12,LRSAM1,FAM129B,STXBP1,C9orf117,PTRH1,TTC16,TOR2A,SH2D3C,CDK9,FPGS,ENG,AK1,ST6GALNAC6,ST6GALNAC4,PIP5KL1,DPM2,FAM102A,NAIF1,SLC25A25,PTGES2,LCN2,C9orf16,CIZ1,DNM1,GOLGA2,SWI5,TRUB2,COQ4,SLC27A4,URM1,CERCAM,ODF2,GLE1,SPTAN1,WDR34,SET,PKN3,ZDHHC12,ZER1,TBC1D13,ENDOG,C9orf114,CCBL1,LRRC8A,PHYHD1,DOLK,NUP188,SH3GLB2,FAM73B,DOLPP1,CRAT,PPP2R4,IER5L,C9orf106,NTMT1,C9orf50,ASB6,PRRX2,PTGES,TOR1B,TOR1A,C9orf78,USP20,FNBP1,GPR107,NCS1,ASS1,FUBP3,PRDM12,EXOSC2,ABL1,QRFP,FIBCD1,LAMC3,AIF1L,NUP214,FAM78A,PPAPDC3,PRRC2B,POMT1,UCK1,RAPGEF1,MED27,NTNG2,SETX,TTF1,C9orf171,BARHL1,DDX31,GTF3C4,AK8,C9orf9,TSC1,GFI1B,GTF3C5,CEL,RALGDS,GBGT1,OBP2B,ABO,SURF6,MED22,RPL7A,SURF1,SURF2,SURF4,C9orf96,REXO4,ADAMTS13,CACFD1,SLC2A6,TMEM8C,ADAMTSL2,FAM163B,DBH,SARDH,VAV2,BRD3,WDR5,RXRA,COL5A1,FCN2,FCN1,OLFM1,C9orf62,PPP1R26,C9orf116,MRPS2,LCN1,OBP2A,PAEP,GLT6D1,LCN9,SOHLH1,KCNT1,CAMSAP1,UBAC1,NACC2,C9orf69,LHX3,QSOX2,GPSM1,DNLZ,CARD9,SNAPC4,SDCCAG3,PMPCA,INPP5E,SEC16A,C9orf163,NOTCH1,EGFL7,AGPAT2,FAM69B,LCN10,LCN6,LCN8,LCN15,TMEM141,CCDC183,RABL6,C9orf172,PHPT1,MAMDC4,EDF1,TRAF2,FBXW5,C8G,LCN12,PTGDS,LCNL1,C9orf142,CLIC3,ABCA2,C9orf139,FUT7,NPDC1,ENTPD2,SAPCD2,UAP1L1,MAN1B1,DPP7,GRIN1,LRRC26,TMEM210,ANAPC2,SSNA1,TPRN,TMEM203,NDOR1,RNF208,C9orf169,RNF224,SLC34A3,TUBB4B,FAM166A,C9orf173,NELFB,TOR4A,NRARP,EXD3,NOXA1,ENTPD8,NSMF,PNPLA7,MRPL41,DPH7,ZMYND19,ARRDC1,C9orf37,EHMT1,CACNA1B,FAM157B
Controls
No Control Data Available
No Animal Model Data Available