2q35CNV Type: Deletion-Duplication
Largest CNV size: 26194 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
408809
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
37428
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
126786
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
312000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1720481
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
401408
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
650323
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
26194
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
138017
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
19805
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
26299
2
1
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
54752
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
15765
6
0
6
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
72295
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
151022
1
1
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
401408
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
211484
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
26299
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
39424
4
2
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0886
N/A
N/A
Intellectual disability
Intellectual disability, hypothyroidism, osteomalacia, short stature. Consanguineous parents.
Intellectual disability
219167411
219576219
408809
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4355_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
215699549
215736977
37429
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1159303
Autism
217219345
217346130
126786
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-AU2482301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
215987032
216297032
310001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
214814200
215197772
383573
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003893
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
215079289
216799770
1720482
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14425.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
216277671
216679079
401409
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
215010313
215660637
650325
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5108_3
NA
M
Autism
NA
Average IQ
217291508
217317701
26194
Unknown
Duplication
Yes
pinto_14_ASD_discovery_cases2-case18173_301
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
218818920
218956937
138018
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2291A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU038005; NDAR ID NDAR_INVGY788ULC)
218367428
218387232
19805
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055504; NDAR ID NDAR_INVXM069XZB)
218269964
218272764
2801
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case60634
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
217292020
217318318
26299
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case60910L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
218967750
218978443
10694
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94073
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
216922084
216928852
6769
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-218
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
217784764
217839515
54752
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
217410647
217419801
9155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
217410647
217419801
9155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
216663240
216679005
15766
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
218964484
218977481
12998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12463.p1
9.8
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 94; verbal IQ, 73
218964484
218977481
12998
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12957.p1
9.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
218958775
218970972
12198
GRCh38
Deletion
No
wang_18_TS_discovery_cases-caseTDT08-120-03
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
219302737
219375031
72295
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB645255_1007846507
N/A
N/A
Control
No previous psychiatric history
215589522
215625359
35838
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
N/A
N/A
Control
No previous psychiatric history
216116463
216267485
151023
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control14425.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
216277671
216679079
401409
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C28747A
N/A
F
Control
NIMH Control (NIMH ID 23399)
216066383
216277866
211484
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
218568272
218568874
603
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11395.s1
3.5
M
Control (matched sibling)
NA
NA
216663240
216679005
15766
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
216663240
216679005
15766
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
215619859
215625359
5501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
214591603
214631027
39425
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
219864899
219893968
29070
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0886
Unknown
Unknown
Unknown
CNPPD1,ATG9A,GLB1L,STK16,MIR153-1,DES,GMPPA,CHPF,MIR3132,INHA,SLC23A3,RETREG2,ZFAND2B,ABCB6,ANKZF1,TUBA4A,TUBA4B,PTPRN,RESP18,DNPEP,SPEG,ASIC4,OBSL1,DNAJB2,TMEM198
engchuan_15_ASD_discovery_cases-case4355_1
Unknown
LINC01614,LINC00607
gai_11_ASD_discovery_cases-AU1159303
Inherited
IGFBP2, IGFBP5
girirajan_13a_ASD_discovery_cases-AU2482301
Unknown
Multiplex
Unknown
POLHP1,TMEM169,LINC01963,XRCC5,MARCH4,MREG,PECR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SNORA70I,RPL10P6,ABCA12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003893
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01614,POLHP1,PSMB3P2,RNA5SP120,ATIC,FN1,TMEM169,LINC01963,SMARCAL1,LINC01280,IGFBP5,LINC00607,XRCC5,MARCH4,RPL37A,IGFBP2,ABCA12,MREG,PECR
krumm_15_ASD_discovery_cases-case14425.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PSMB3P2,SMARCAL1,LINC01280,IGFBP5,MARCH4,RPL37A,IGFBP2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Maternal
Multi-generational
Unknown
ATIC,FN1,LINC00607,ABCA12
pinto_10_ASD_discovery_cases-case5108_3
qPCR
paternal
Multiplex
Unknown
0 genes
pinto_14_ASD_discovery_cases2-case18173_301
qPCR
Maternal
Simplex
(not tested)
MIR9500,RPL23AP31,RNU6-642P,KRT8P30,PRKAG3,WNT6,LINC01494,WNT10A
poultney_13_ASD_discovery_cases-case01HI2291A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CATIP-AS1,SLC11A1,CATIP
poultney_13_ASD_discovery_cases-case99HI0802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AAMP,PNKD
prasad_12_ASD_discovery_cases-case60634
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60910L
Unknown
Unknown
Unknown
MIR26B,CTDSP1,SLC11A1
prasad_12_ASD_discovery_cases-case94073
Unknown
Unknown
Unknown
MARCH4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-218
qPCR
Paternal
Unknown
Unknown
TNS1
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Segregated
DIRC3
sanders_11_ASD_discovery_cases-11432.p1
Paternal
Simplex (quad-proband matched)
Segregated
DIRC3
sanders_11_ASD_discovery_cases-11436.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IGFBP5,IGFBP2
sanders_11_ASD_discovery_cases-12405.p1
Unknown
Simplex (trio)
NA
LINC00608
sanders_11_ASD_discovery_cases-12463.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00608
sanders_11_ASD_discovery_cases-12957.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CDK5R2
wang_18_TS_discovery_cases-caseTDT08-120-03
CNV validation not attempted
De novo
PTPRN,RESP18,DNPEP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB645255_1007846507
Unknown
LINC00607
engchuan_15_ASD_discovery_controls-controlB655824_1007872623
Unknown
POLHP1,LINC01963,XRCC5,MARCH4
krumm_15_ASD_discovery_controls-control14425.s1
Omni2.5-4v1
Maternal
PSMB3P2,SMARCAL1,LINC01280,IGFBP5,MARCH4,RPL37A,IGFBP2
poultney_13_ASD_discovery_controls-control04C28747A
Unknown
POLHP1,TMEM169,LINC01963,XRCC5,MARCH4,PECR
sanders_11_ASD_discovery_controls-11124.s1
Unknown
Simplex (quad)
NA
CNOT9,USP37
sanders_11_ASD_discovery_controls-11395.s1
Unknown
Simplex (quad)
NA
IGFBP5,IGFBP2
sanders_11_ASD_discovery_controls-11436.s1
Unknown
Simplex (quad)
NA
IGFBP5,IGFBP2
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
LINC00607
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12859.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available