12q21.31CNV Type: Deletion-Duplication
Largest CNV size: 235996 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Contribution of SHANK3 mutations to autism spectrum disorder.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
178
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
753726
15
5
20
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
37727
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
233510
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
134688
0
1
1
halgren_12_DD/ID_discovery_cases
Second child of healthy unrelated parents with a complex de novo chromosomal rearrangement [t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn].
1
Developmental delay/intellectual disability (DD/ID) with additional behavioral disorders, including autistic features. Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis.
27 yrs.
Male
96137
1
0
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
4986948
4
0
4
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
98154
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
166100
4
0
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
27449
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
794000
0
1
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
39866
0
1
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
224000
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
37727
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)
1978
1
0
1
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
7517
1
0
1
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
67191
0
2
2
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
235996
26
5
31
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
178
1
0
1
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
415357
22
7
29
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_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
97705
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
97705
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
27449
1
0
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)
0
0
0
0
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)
7517
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.
220172
15
3
18
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
97545
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
halgren_12_DD/ID_discovery_cases
Denmark
Array SNP
Affymetrix 6.0
Genotyping Console (Affymetrix)
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_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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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_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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-caseSSC03637
N/A
M
ASD
Case from SSC_phase2 cohort
81259083
81259260
178
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13131_1483
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1338_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14169_2750
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85514618
85601955
87338
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14179_2900
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80789468
81543194
753727
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17033_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20110_1510001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2072_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84079772
84303354
223583
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21027_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83174069
83219085
45017
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3079_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3240_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85662313
85758817
96505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3378_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4202_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4372_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85555003
85915013
360011
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5097_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5137_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83492077
83575461
83385
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6006_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6034_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6239_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6272_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8660_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82774837
82812563
37727
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0714302
Autism
82774837
82812563
37727
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU080203
Autism
84496255
84729764
233510
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case691-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
85611439
85746127
134689
GRCh38
Duplication
No
halgren_12_DD/ID_discovery_cases-case1
27 yrs.
M
Developmental delay/intellectual disability (DD/ID)
Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis. Patient karyotype: t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn. Birth/neonatal history: amniocentesis performed due to advanced maternal age (de novo translocation involving chromosomes 12 and 18 detected); born by uncomplicated vaginal delivery at 40 weeks; unremarkable neonatal period. Developmental milestones: walked independently at 12 months; no delay in language development; motor delay. Language and communication evaluation: no delay in language development. Motor and musculoskeletal evaluation: difficulties with complex motor tasks. Behavioral/psychiatric evaluation: diagnosed with hyperkinetic disorder at age of 6 (treated with methylphenidate); described as aggressive, with immature and oppositional behavior, having problems with impulsivity and attention shifting, and with lack of emotional reciprocity; signs of autistic behavior with indications of concrete thinking, impairment of social interaction skills, vagueness in description of others, lack of concentration over time, hyperactivity, and impulsive behavior; inability to develop peer relationships. Epilepsy/seizures: hospitalized at 23 months of age due to series of three febrile seizures (did not experience recurrent seizures, EEG not performed). Vision evaluation: myopia (estimated -3 diopters). Dysmorphic features: none. Growth parameters: height 180 cm, weight 110kg, head circumference 61 cm; BMI of 34 (obesity). Family history: second child of healthy unrelated parents.
Borderline IQ. IQ of 71 at age of 13 years (Weschler Intelligence Scale for Children-Revised).
83367679
83463815
96137
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002332
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80393097
81021534
628438
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002671
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80530108
80719071
188964
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004270
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80538484
80798086
259603
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80266605
85253555
4986951
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12869.p1
N/A
F
ASD
ASD proband from SSC quad family 12869. SRS score of 90.
Full-scale IQ (FSIQ) score of 31.
80238850
80337004
98155
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13798.p1
N/A
F
ASD
ASD proband from SSC quad family 13798. SRS score of 68.
Full-scale IQ (FSIQ) score of 103.
80238850
80337004
98155
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11101.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
80238850
80336140
97291
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80211948
80378048
166101
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12869.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80238850
80336555
97706
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13798.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80238850
80336555
97706
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11442.p1
NA
M
ASD
NA
NA
81094831
81122279
27449
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown18
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)
85297618
86091774
794157
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0301-003
NA
M
ASD
NA
NA
84492688
84532553
39866
GRCh38
Duplication
Yes
moessner_07_ASD_discovery_cases-case3
NA
M
ASD
Nonverbal speech,profound social impairment, restricted/repetitive behaviors, mild self-injurious behavior
NA
84076553
84300953
224401
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1338_301
NA
M
ASD
NA
NA
82774837
82812563
37727
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5097_3
NA
M
ASD
NA
NA
82774837
82812563
37727
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2424A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0931305; NDAR ID NDAR_INVRC286DEU)
82965022
82966999
1978
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case125733
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
84744703
84752219
7517
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1350-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: no. Intellectual disability: unknown.
85805157
85872347
67191
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1593-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
85808215
85872347
64133
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
80432407
80433815
1409
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
80221071
80356879
135809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
82774837
82821602
46766
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
82774837
82826225
51389
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11195.p1
8.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
85111608
85118589
6982
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11511.p1
10.6
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
82774837
82826225
51389
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
82774837
82821602
46766
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11954.p1
5.3
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
80469083
80476017
6935
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
80204064
80440060
235997
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
81822091
81831776
9686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
83390723
83394181
3459
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
83393966
83394181
216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
81665196
81665579
384
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
80469083
80476017
6935
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
82774837
82821602
46766
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
85111608
85118589
6982
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
83393966
83394181
216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12532.p1
11.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 135
84076572
84303354
226783
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
83393966
83394181
216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
83393966
83394181
216
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
83015827
83024115
8289
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12799.p1
4
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
83023696
83029561
5866
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12867.p1
16.7
F
ASD
NA
Full-scale IQ, 60; non-verbal IQ, 63; verbal IQ, 57
84095800
84142328
46529
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
80239313
80337260
97948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
84874764
84901997
27234
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
82774837
82826225
51389
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
brandler_18_ASD_replication_controls-controlSSC03646
N/A
F
control
Control from SSC_phase2 cohort
81259083
81259260
178
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017911_
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021582_
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036022010_
N/A
N/A
Control
No previous psychiatric history
83641688
84057045
415358
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
83641688
84057045
415358
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
N/A
N/A
Control
No previous psychiatric history
83958257
83998694
40438
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB660739_1007854149
N/A
N/A
Control
No previous psychiatric history
82774837
82829578
54742
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB699996_1007874008
N/A
N/A
Control
No previous psychiatric history
84027556
84124365
96810
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742758_1007875311
N/A
N/A
Control
No previous psychiatric history
80150504
80518279
367776
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
N/A
N/A
Control
No previous psychiatric history
82773177
82812563
39387
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB923323_1007844723
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900359_900359
N/A
N/A
Control
No previous psychiatric history
83358554
83413462
54909
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900377_900377
N/A
N/A
Control
No previous psychiatric history
84086512
84129220
42709
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900435_900435
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
N/A
N/A
Control
No previous psychiatric history
80239313
80337260
97948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900540_900540
N/A
N/A
Control
No previous psychiatric history
85807925
85877285
69361
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901133_901133
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
N/A
N/A
Control
No previous psychiatric history
85627220
85678034
50815
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
N/A
N/A
Control
No previous psychiatric history
80239313
80337260
97948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902508_902508
N/A
N/A
Control
No previous psychiatric history
82774837
82812563
37727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
N/A
N/A
Control
No previous psychiatric history
80120722
80195495
74774
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902722_902722
N/A
N/A
Control
No previous psychiatric history
80239313
80337260
97948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_903004_903004
N/A
N/A
Control
No previous psychiatric history
83641688
84057045
415358
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12869.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12869. SRS score of 36.
80238850
80336555
97706
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12869.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
80238850
80336555
97706
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11442.s1
NA
M
Control
NA
NA
81094831
81122279
27449
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
80239313
80454445
215133
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
80446147
80511989
65843
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
82773177
82826225
53049
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
82774837
82821602
46766
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
82774837
82826225
51389
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12053.s1
7.1
F
Control (matched sibling)
NA
NA
83393966
83394181
216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
82774837
82826225
51389
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
83390723
83394181
3459
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
80141204
80154324
13121
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
82016418
82021273
4856
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
83393966
83394181
216
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
83015827
83024115
8289
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
83094293
83106563
12271
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
84095800
84129220
33421
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
81822091
81827935
5845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
84874764
84892654
17891
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family72_Twin_1
N/A
N/A
Control
Control is from a dizygotic twin pair from the Discordant NDD diagnostic subgroup
80238871
80336415
97545
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseSSC03637
No validation step reported
Paternal
ACSS3,PPFIA2
engchuan_15_ASD_discovery_cases-case13131_1483
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case1338_301
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case14169_2750
Unknown
engchuan_15_ASD_discovery_cases-case14179_2900
Unknown
MIR617,MIR618,MIR4699,PPFIA2-AS1,LIN7A,ACSS3,PPFIA2
engchuan_15_ASD_discovery_cases-case17033_1
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case20110_1510001
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case2072_1
Unknown
engchuan_15_ASD_discovery_cases-case21027_1
Unknown
engchuan_15_ASD_discovery_cases-case3079_1
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case3240_3
Unknown
engchuan_15_ASD_discovery_cases-case3378_4
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case4202_1
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case4372_1
Unknown
NTS,RASSF9
engchuan_15_ASD_discovery_cases-case5097_3
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case5137_3
Unknown
engchuan_15_ASD_discovery_cases-case6006_5
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case6034_3
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case6239_3
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case6272_3
Unknown
TMTC2
engchuan_15_ASD_discovery_cases-case8660_201
Unknown
TMTC2
gai_11_ASD_discovery_cases-AU0714302
Inherited
TMTC2
gai_11_ASD_replication_cases-AU080203
Inherited
RASSF9
gazzellone_14_ASD_discovery_cases-case691-3
Unknown
Unknown
Unknown
halgren_12_DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002332
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AKIRIN1P1,MYF5,LINC01490,MIR617,MIR618,MYF6,PTPRQ,LIN7A,ACSS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002671
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AKIRIN1P1,MYF5,MYF6,PTPRQ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004270
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AKIRIN1P1,MYF5,LINC01490,MYF6,PTPRQ,LIN7A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP261,AKIRIN1P1,MYF5,LINC01490,MIR617,MIR618,MIR4699,RNU6-977P,RPL6P25,MYF6,PPFIA2-AS1,LINC02426,SLC6A15,TSPAN19,OTOGL,PTPRQ,LIN7A,ACSS3,PPFIA2,CCDC59,METTL25,LRRIQ1,TMTC2
krumm_13_ASD_discovery_cases-case12869.p1
Maternal
Simplex
Not segregated
OTOGL
krumm_13_ASD_discovery_cases-case13798.p1
Paternal
Simplex
Segregated
OTOGL
krumm_15_ASD_discovery_cases-case11101.p1
Illumina 1M
Paternal
Simplex
Segregated
OTOGL
krumm_15_ASD_discovery_cases-case12076.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RN7SKP261,OTOGL
krumm_15_ASD_discovery_cases-case12869.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OTOGL
krumm_15_ASD_discovery_cases-case13798.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
OTOGL
levy_11_ASD_discovery_cases-11442.p1
Paternal
Simplex
Not segregated
ACSS3
maini_18_ASD/DD/ID_discovery_cases-case_unknown18
Maternal
Unknown
Unknown
NTS,ALX1,RASSF9,MGAT4C
marshall_08_ASD_discovery_cases-SK0301-003
qPCR, qmPCR
Unknown
NA
NA
moessner_07_ASD_discovery_cases-case3
Maternal
Multiplex
NA
pinto_10_ASD_discovery_cases-case1338_301
Illumina550;Affy5.0
paternal
NA
NA
TMTC2
pinto_10_ASD_discovery_cases-case5097_3
Agilent1M
paternal
NA
NA
TMTC2
poultney_13_ASD_discovery_cases-case03HI2424A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TMTC2
prasad_12_ASD_discovery_cases-case125733
Unknown
Unknown
Unknown
RASSF9
sajan_13_ACC/CBLH/PMG_discovery_cases-case1350-0
Not tested by qPCR
Unknown
Unknown
Unknown
RASSF9
sajan_13_ACC/CBLH/PMG_discovery_cases-case1593-0
Not tested by qPCR
Unknown
Unknown
Unknown
RASSF9
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Segregated
PTPRQ
sanders_11_ASD_discovery_cases-11101.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RN7SKP261,OTOGL
sanders_11_ASD_discovery_cases-11146.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-11168.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-11195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LRRIQ1
sanders_11_ASD_discovery_cases-11447.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11511.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-11523.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11954.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRQ
sanders_11_ASD_discovery_cases-12076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SKP261,OTOGL,PTPRQ
sanders_11_ASD_discovery_cases-12115.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12117.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12153.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12202.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPFIA2
sanders_11_ASD_discovery_cases-12287.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12289.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRQ
sanders_11_ASD_discovery_cases-12323.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-12355.p1
Maternal
Simplex (trio)
NA
LRRIQ1
sanders_11_ASD_discovery_cases-12532.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12532.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12634.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12650.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12780.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-977P,TMTC2
sanders_11_ASD_discovery_cases-12799.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMTC2
sanders_11_ASD_discovery_cases-12867.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12869.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
OTOGL
sanders_11_ASD_discovery_cases-13013.p1
Paternal
Simplex (trio)
NA
SLC6A15
sanders_11_ASD_discovery_cases-13367.p1
Paternal
Simplex (trio)
NA
TMTC2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC03646
No validation step reported
Paternal
ACSS3,PPFIA2
engchuan_15_ASD_discovery_controls-control110036017911_
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-control110036021582_
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-control110036022010_
Unknown
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB505135_1007854094
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB526636_1007854065
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
Unknown
engchuan_15_ASD_discovery_controls-controlB660739_1007854149
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB699996_1007874008
Unknown
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB742758_1007875311
Unknown
RN7SKP261,OTOGL,PTPRQ
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB855640_1007853300
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlB923323_1007844723
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_900359_900359
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900377_900377
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900435_900435
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_900458_900458
Unknown
OTOGL
engchuan_15_ASD_discovery_controls-controlHABC_900540_900540
Unknown
NTS,RASSF9
engchuan_15_ASD_discovery_controls-controlHABC_901017_901017
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_901133_901133
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_901173_901173
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
Unknown
OTOGL
engchuan_15_ASD_discovery_controls-controlHABC_902508_902508
Unknown
TMTC2
engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
Unknown
OTOGL
engchuan_15_ASD_discovery_controls-controlHABC_902722_902722
Unknown
OTOGL
engchuan_15_ASD_discovery_controls-controlHABC_903004_903004
Unknown
krumm_13_ASD_discovery_controls-control12869.s1
Maternal
Simplex
OTOGL
krumm_15_ASD_discovery_controls-control12869.s1
Illumina 1MDuo
Maternal
OTOGL
levy_11_ASD_discovery_controls-11442.s1
Paternal
Simplex
NA
ACSS3
sanders_11_ASD_discovery_controls-11101.s1
Paternal
Simplex (quad)
NA
RN7SKP261,OTOGL,PTPRQ
sanders_11_ASD_discovery_controls-11141.s1
Maternal
Simplex (quad)
NA
PTPRQ
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
TMTC2
sanders_11_ASD_discovery_controls-11718.s1
Maternal
Simplex (quad)
NA
TMTC2
sanders_11_ASD_discovery_controls-11753.s1
Paternal
Simplex (quad)
NA
TMTC2
sanders_11_ASD_discovery_controls-12053.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12150.s1
Paternal
Simplex (quad)
NA
TMTC2
sanders_11_ASD_discovery_controls-12170.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12229.s1
Paternal
Simplex (quad)
NA
OTOGL
sanders_11_ASD_discovery_controls-12403.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
RNU6-977P,TMTC2
sanders_11_ASD_discovery_controls-12853.s1
Paternal
Simplex (quad)
NA
TMTC2
sanders_11_ASD_discovery_controls-12867.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
SLC6A15
stamouli_18_ASD/NDD_discovery_controls-family72_Twin_1
Maternal
Simplex
OTOGL
No Animal Model Data Available