12p13.2CNV Type: Deletion-Duplication
Largest CNV size: 45454 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and rela...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
163
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
629000
0
1
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
81549
23
0
23
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
84111
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
4811
0
1
1
leyser_16_ASD/DD_discovery_cases
4-year-old male patient with 12p13.2 deletion identified by G-banded karyotyping
1
Diagnosis of ASD according to DSM-5 criteria with an overall CARS score of 44 (within severe range of ASD); case also presented with developmental delay.
4 yrs.
Male
N/A
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
300000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
14218
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
0
0
1
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
45454
2
0
2
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)
405808
0
3
3
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
84741
1
2
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
72246
3
0
3
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
9879
3
2
5
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
19618
1
0
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
195758
36
7
43
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
84111
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
4811
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
347984
0
2
2
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)
84741
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.
9334
1
2
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
leyser_16_ASD/DD_discovery_cases
Brazilian
G-banded karyotyping
High resolution G-banded chromosome analysis
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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)
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
None (not tested or failure to confirm by 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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
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
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
11649996
11650159
164
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300356
N/A
M
Developmental delay/intellectual disability
10090089
10719598
629510
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13076_903
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13079_933
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11341087
11413332
72246
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13100_1173
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13119_1364
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13163_1803
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14078_1340
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14109_1970
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11404725
50586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14139_2370
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11362998
11404725
41728
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14143_2410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14185_3040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3018_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11404725
50586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3026_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3104_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3120_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4270_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11341087
11422636
81550
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5032_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11367487
11404725
37239
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5083_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11362998
11394598
31601
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5283_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5302_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5394_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10406893
10452346
45454
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5424_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6339_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6357_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11341087
11413332
72246
GRCh38
Deletion
No
griswold_12_ASD_discovery_cases-case37240
NA
NA
ASD/autism
NA
NA
10204175
10288286
84112
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12736.p1
N/A
M
ASD
ASD proband from SSC quad family 12736. SRS score of 85.
Full-scale IQ (FSIQ) score of 101.
10185329
10190140
4812
GRCh38
Duplication
No (not tested)
leyser_16_ASD/DD_discovery_cases-case1
4 yrs.
M
ASD and developmental delay
Diagnosis of ASD (according to DSM-5 criteria); overall CARS score of 44 (within severe range of ASD). Birth/neonatal history: born at term by vaginal delivery following uneventful pregnancy; mother consumed alcohol before becoming aware of pregnancy; mother had a small amount of vaginal bleeding at 42 weeks of gestation; Apgar scores of 8 and 8; mild asymptomic hypoglycemia due to suction difficulties; discharged from hospital at three days; able to breastfeed until 3 months of age only. Developmental milestones: presented with global developmental delay around 11 months of age; social and language skills below rest of developmental domains; independent walking at 23 months. Language and communication evalaution: poor verbal and non-verbal communication. Behavioral/psychiatric evaluation: poor eye contact; poor social interaction; significant motor and vocal stereotypic behaviors; difficulties in functional play and imitation. Epilepsy/seizures: none reported. EEG: signs of a non-specific slow background. Brain imaging: sparse increased signal in FLAIR and T2-weighted images in white matter territories adjacent to the lateral ventricle bodies and subcortical zones. Visual evaluation: refraction error visual impairment. Dysmorphic features: none reported. Growth parameters: weight 15th-25th %ile, height 15th-25th %ile, head circumference 75th %ile. Family history: parents were non-consanguineous and healthy.
N/A
N/A
N/A
Unknown
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown16
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
10704274
11022630
318357
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0059-003
NA
M
ASD
NA
NA
10387216
10401434
14219
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case3001
NA
ASD
NA
NA
10295000
10295000
0
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case13046_553
NA
M
Autism
Verbal
Normal IQ
11407199
11436086
28887
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5394_3
NA
M
ASD
NA
NA
10406893
10452346
45454
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0694B
N/A
F
ASD
ASD case from AGRE (AGRE ID AU038203; NDAR ID NDAR_INVXX733FLA)
9993141
10073413
80273
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
9978964
10126710
147747
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
12115293
12521100
405808
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case143189
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10285606
10296717
11112
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68711
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10429581
10437561
7981
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case83152L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10152859
10237599
84741
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1004-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: yes.
11341087
11413332
72246
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1149-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
11341087
11413332
72246
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1343-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
11341087
11413332
72246
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11316.p1
11.7
F
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
12100657
12101916
1260
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
12380050
12388935
8886
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
11304779
11314658
9880
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
11288636
11293445
4810
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
12380050
12388935
8886
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
11077138
11096755
19618
GRCh38
Deletion
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-controlB140638_1007853950
N/A
N/A
Control
No previous psychiatric history
11354140
11404725
50586
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB178414_0057061570
N/A
N/A
Control
No previous psychiatric history
11362998
11404725
41728
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB201461_1007854130
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB212877_1007875368
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB225642_1007841224
N/A
N/A
Control
No previous psychiatric history
10407992
10451071
43080
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB268107_1007853890
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB275066_1007872201
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
N/A
N/A
Control
No previous psychiatric history
10407992
10451071
43080
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
N/A
N/A
Control
No previous psychiatric history
10836722
10921169
84448
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB317750_1007842099
N/A
N/A
Control
No previous psychiatric history
10407992
10451071
43080
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
N/A
N/A
Control
No previous psychiatric history
11328123
11404725
76603
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
N/A
N/A
Control
No previous psychiatric history
10407992
10451071
43080
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
N/A
N/A
Control
No previous psychiatric history
11362998
11404725
41728
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
N/A
N/A
Control
No previous psychiatric history
11367487
11404725
37239
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB401529_1007854734
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB456798_1007854143
N/A
N/A
Control
No previous psychiatric history
10408358
10452346
43989
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB472391_1007854029
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
N/A
N/A
Control
No previous psychiatric history
11304779
11342773
37995
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB528818_1007853876
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529296_1007840921
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB549441_1007854309
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
N/A
N/A
Control
No previous psychiatric history
11362998
11404725
41728
GRCh38
Homozygous deletion
No
engchuan_15_ASD_discovery_controls-controlB626857_1007872217
N/A
N/A
Control
No previous psychiatric history
11362998
11404725
41728
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB719465_1007853907
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB733220_1007853759
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
N/A
N/A
Control
No previous psychiatric history
11367487
11404725
37239
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB810722_1007874889
N/A
N/A
Control
No previous psychiatric history
11341087
11413332
72246
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB818627_1007854359
N/A
N/A
Control
No previous psychiatric history
11354140
11391885
37746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB826285_0067942629
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB829591_1007854754
N/A
N/A
Control
No previous psychiatric history
11362998
11558756
195759
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
N/A
N/A
Control
No previous psychiatric history
11362998
11413332
50335
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB887823_1007874701
N/A
N/A
Control
No previous psychiatric history
10408358
10451071
42714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
N/A
N/A
Control
No previous psychiatric history
11362998
11404725
41728
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901220_901220
N/A
N/A
Control
No previous psychiatric history
11265934
11304779
38846
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
N/A
N/A
Control
No previous psychiatric history
11035541
11066832
31292
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12736.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12736. SRS score of 53.
10185329
10190140
4812
GRCh38
Duplication
No (not tested)
poultney_13_ASD_discovery_controls-control04C28851A
N/A
M
Control
NIMH Control (NIMH ID 46341)
10407651
10449390
41740
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
11839138
12187121
347984
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
12380050
12388935
8886
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
10384670
10394004
9335
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
10384670
10394004
9335
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
ETV6
digregorio_17_DD/ID_discovery_cases-DECIPHER_300356
Unknown
HNRNPABP1,OLR1,GABARAPL1,LINC02598,KLRC4,LINC02446,KLRA1P,MAGOHB,CLEC7A,TMEM52B,KLRD1,KLRK1,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1,EIF2S3B,SLC25A39P2,STYK1,YBX3,CLEC1A
engchuan_15_ASD_discovery_cases-case13076_903
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case13079_933
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case13100_1173
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case13119_1364
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case13163_1803
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case14078_1340
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case14109_1970
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case14139_2370
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case14143_2410
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case14185_3040
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case3018_3
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case3026_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case3104_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case3120_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case4270_1
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case5032_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case5083_3
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case5283_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case5302_4
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case5394_3
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_cases-case5424_3
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case6339_3
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_cases-case6357_3
Unknown
PRB1,PRB2
griswold_12_ASD_discovery_cases-case37240
qPCR
Paternal
Simplex
Not segregated
GABARAPL1,KLRD1
krumm_13_ASD_discovery_cases-case12736.p1
Maternal
Simplex
Not segregated
TMEM52B
leyser_16_ASD/DD_discovery_cases-case1
De novo
Likely segregated
CNV gene content N/A due to lack of defined start and end points
maini_18_ASD/DD/ID_discovery_cases-case_unknown16
Unknown
Unknown
Unknown
HSPE1P12,TAS2R7,TAS2R8,TAS2R9,TAS2R10,TAS2R13,PRH2,TAS2R15P,TAS2R50,TAS2R20,TAS2R19,YBX3,LINC02366,PRR4,PRH1,PRH1-PRR4,TAS2R14
marshall_08_ASD_discovery_cases-SK0059-003
qPCR, qmPCR
Unknown
NA
NA
KLRK1,KLRC4-KLRK1
morrow_08_ASD_discovery_cases-case3001
Unknown
NA
NA
KLRD1
pinto_10_ASD_discovery_cases-case13046_553
qPCR
De novo
N/A
NA
PRB2 exonic
pinto_10_ASD_discovery_cases-case5394_3
Agilent1M
paternal
NA
NA
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
poultney_13_ASD_discovery_cases-case99HI0694B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CLEC12B,CLEC1B,CLEC9A,CLEC12A,CLEC1A
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CLEC12B,RN7SKP161,HNRNPABP1,CLEC1B,CLEC9A,CLEC7A,CLEC12A,CLEC1A
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-545P,RNU6-318P,RPL23AP66,LOH12CR2,MANSC1,DUSP16,BCL2L14,LRP6,BORCS5
prasad_12_ASD_discovery_cases-case143189
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68711
Unknown
Unknown
Unknown
KLRK1,KLRC4-KLRK1
prasad_12_ASD_discovery_cases-case83152L
Unknown
Unknown
Unknown
C12orf59,OLR1,CLEC7A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1004-0
Not tested by qPCR
Unknown
Unknown
Unknown
PRB1,PRB2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1149-0
Not tested by qPCR
Unknown
Unknown
Unknown
PRB1,PRB2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1343-0
Not tested by qPCR
Unknown
Unknown
Unknown
PRB1,PRB2
sanders_11_ASD_discovery_cases-11316.p1
Paternal
Simplex (quad-proband matched)
Segregated
BCL2L14
sanders_11_ASD_discovery_cases-11556.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BORCS5
sanders_11_ASD_discovery_cases-11818.p1
Maternal
Simplex (quad-proband matched)
Segregated
PRB4
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12499.p1
Both parents
Simplex (quad-proband matched)
Not segregated
BORCS5
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
TAS2R64P,TAS2R43,PRH1,PRH1-PRR4,TAS2R14
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB178414_0057061570
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB201461_1007854130
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB212877_1007875368
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB225642_1007841224
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB268107_1007853890
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB275066_1007872201
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB295382_1007853936
Unknown
TAS2R13,PRR4,PRH1,PRH1-PRR4
engchuan_15_ASD_discovery_controls-controlB317750_1007842099
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB357802_1007874407
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB387047_1007874371
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB395936_1007853800
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB401529_1007854734
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB456798_1007854143
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB472391_1007854029
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB487470_1007873444
Unknown
PRB4
engchuan_15_ASD_discovery_controls-controlB528818_1007853876
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB529296_1007840921
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB549441_1007854309
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB561892_1007853627
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB626857_1007872217
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB659155_1007854741
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB719465_1007853907
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB733220_1007853759
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB778845_1007854001
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB782997_1007853703
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB792739_1007854317
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB810722_1007874889
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB818627_1007854359
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB826285_0067942629
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB829591_1007854754
Unknown
HIGD1AP8,DDX55P1,RNU7-60P,PRB1,LINC01252,PRB2
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlB887823_1007874701
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
Unknown
PRB1,PRB2
engchuan_15_ASD_discovery_controls-controlHABC_901220_901220
Unknown
PRB3
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
Unknown
TAS2R63P,TAS2R46,PRH1,PRH1-PRR4,TAS2R14
krumm_13_ASD_discovery_controls-control12736.s1
Maternal
Simplex
TMEM52B
poultney_13_ASD_discovery_controls-control04C28851A
Unknown
KLRC4,KLRC4-KLRK1,KLRC3,KLRC2,KLRC1
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR1244-4,ETV6,BCL2L14,LRP6
sanders_11_ASD_discovery_controls-11184.s1
Both parents
Simplex (quad)
NA
BORCS5
sanders_11_ASD_discovery_controls-13001.s1
Maternal
Simplex (quad)
NA
KLRK1,KLRC4-KLRK1
sanders_11_ASD_discovery_controls-13018.s1
Paternal
Simplex (quad)
NA
KLRK1,KLRC4-KLRK1
No Animal Model Data Available