1q24.3-q25.2CNV Type: Deletion
Largest CNV size: 8948411 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
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
5631143
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
8948411
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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-case59
1 yrs
F
Non-NDD
Extreme short stature, facial dysmorphism, bilateral transverse palmar crease
171728519
177359665
5631147
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case20455
NA
NA
ASD
NA
NA
169650629
178599040
8948411
Unknown
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-case59
FISH
De novo
DNM3-IT1,DNM3OS,MIR214,MIR3120,MIR199A2,RNU6-157P,RNU6-693P,FASLG,SLC25A38P1,AIMP1P2,GOT2P2,PRDX6,TEX50,RN7SKP160,GAS5-AS1,RNA5SP67,RNA5SP68,RPL30P1,GPR52,BANF1P4,RABGAP1L-IT1,RNU6-307P,CACYBP,SDCCAG3P2,RPS29P4,LINC01657,RPS29P5,SCARNA3,RNU2-12P,MORF4L1P7,PTP4A1P7,MIR488,PIGC,C1orf105,SUCO,TNFSF18,TNFSF4,ANKRD45,KLHL20,DARS2,GAS5,ZBTB37,SERPINC1,RC3H1-IT1,MRPS14,KIAA0040,TNR-IT1,LINC01645,VAMP4,SLC9C2,CENPL,RC3H1,RABGAP1L,NDUFAF4P4,TNR,PAPPA2,ASTN1,DNM3,TNN,BRINP2,COP1
rosenfeld_10_ASD_discovery_cases-case20455
FISH
Unknown
Unknown
Unknown
PRRC2C,MYOC,VAMP4,METTL13,DNM3,C1orf105,PIGC,C1orf9,FASLG,TNFSF18,TNFSF4,PRDX6,SLC9A11,ANKRD45,LOC730159,KLHL20,CENPL,DARS2,ZBTB37,SERPINC1,RC3H1,RABGAP1L,GPR52,CACYBP,MRPS14,TNN,KIAA0040,TNR,RFWD2,PAPPA2,ASTN1,FAM5B,SEC16B,RASAL2,C1orf49,RALGPS2,ANGPTL1,FAM20B,TOR3A,ABL2,SOAT1,AXDND1,NPHS2,TDRD5,FAM163A,TOR1AIP2,TOR1AIP1,CEP350,QSOX1,LHX4,ACBD6
Controls
No Control Data Available
No Animal Model Data Available