22q13.2CNV Type: Deletion-Duplication
Largest CNV size: 108158 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion...
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
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
133
2
0
2
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
128838
1
2
3
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
37762
2
0
2
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
445112
1
2
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
382352
2
0
2
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
118416
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
51257
6
6
12
levy_21_ASD/ADHD/DD/ID_discovery_cases
Individuals with 22q13.2 duplications affecting the TCF20 gene (three of whom were reported in the DECIPHER database)
5
Developmental delay was observed in four individuals, intellectual disability was observed in two individuals, one individual presented with autism spectrum disorder, and one individual presented with ADHD.
Range, 2-17 yrs.
80.00% Male
1475580
0
5
5
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
42275
1
1
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
27846
1
0
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)
78365
2
2
4
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
115929
1
1
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
108158
9
15
24
simenson_13_ID/ASD/EP_discovery_cases
Only child of healthy non-consanguineous parents presenting with features of Phelan-McDermid syndrome (intellectual disability, autistic behavior, epilepsy, and mild dysmorphic features)
1
Intellectual disability, autistic behavior, epilepsy, and mild dysmorphic features. Developmental level evaluated using Wechsler Intelligence Scale for Children (WISC-III), Griffiths Mental Development Scales and revised Autism Diagnostic Interview (ADI) completed by patient's mother.
7.5 yrs.
Male
720000
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected 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
Diagnoses based on DSM-5 criteria 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 an
N/A
N/A
34600
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
38663
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
43374
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
207656
6
5
11
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
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
6153
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
41485
8
3
11
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
40210
3
0
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
47508
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
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)
20545
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)
115929
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.
78369
9
10
19
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
38663
0
0
0
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_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_21_ASD/ADHD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Agilent 180K, Illumina OmniExpress
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
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
simenson_13_ID/ASD/EP_discovery_cases
Estonia
Solid phase hybridization
Illumina HumanCytoSNP-12 BeadChip
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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-caseAU3399302
N/A
M
ASD
Case from MSSNG cohort
41178144
41178276
133
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3399303
N/A
M
ASD
Case from MSSNG cohort
41178144
41178276
133
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14042_730
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42392310
42521148
128839
GRCh38
Duplication
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)
40819668
40851239
31572
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6180_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42358868
42409889
51022
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU084503
Autism
41792395
41830156
37762
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU084505
Autism
41795473
41830156
34684
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000897
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40860894
41306006
445113
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40860894
41306006
445113
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40832364
41076954
244591
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1920
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43122720
43505071
382352
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1991
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
43172267
43203137
30871
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11654.p1
N/A
F
ASD
ASD proband from SSC quad family 11654. SRS score of 89.
Full-scale IQ (FSIQ) score of 40.
42560185
42566338
6154
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case11828.p1
N/A
M
ASD
ASD proband from SSC quad family 11828. SRS score of 88.
Full-scale IQ (FSIQ) score of 74.
42385160
42503576
118417
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13116.p1
N/A
F
ASD
ASD proband from SSC quad family 13116. SRS score of 90.
Full-scale IQ (FSIQ) score of 35.
42560185
42566338
6154
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13625.p1
N/A
M
ASD
ASD proband from SSC quad family 13625. SRS score of 85.
Full-scale IQ (FSIQ) score of 94.
42560185
42566338
6154
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11391.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11653.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
41205362
41230251
24890
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11828.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42385160
42432357
47198
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12007.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12231.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42065737
42068574
2838
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12420.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42560185
42566338
6154
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12775.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
40770833
40779125
8293
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13688.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
43128495
43179752
51258
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13984.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42799038
42808890
9853
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
41607800
41658354
50555
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14160.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
42062826
42068574
5749
GRCh38
Duplication
Yes
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER269435
2 yrs.
F
Developmental delay, intellectual disability, and seizures
Developmental delay/intellectual disability (intellectual disability listed in DECIPHER as a patient phenotype), seizures, speech delay, epicanthus, hypertelorism, strabismus, clinodactyly of the fifth finger, postaxial hand polydactyly (DECIPHER ID 269435).
Intellectual disability
41842023
42837327
995305
GRCh38
Duplication
No
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER283060
9 yrs.
M
Developmental delay
Developmental delay/intellectual disability (global developmental delay listed in DECIPHER as a patient phenotype), speech delay, myopia, obesity, tall stature (DECIPHER ID 283060). Family history: phenotype of the patient's mother is unknown.
42315030
43488633
1173604
GRCh38
Duplication
No
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER401752
11 yrs.
M
ASD and developmental delay
Developmental delay/intellectual disability (intellectual disability listed in DECIPHER as a patient phenotype), speech delay, autistic spectrum disorder, wide nasal bridge, protruding ears, synophrys, overlapping toes, sandal gap, obesity (DECIPHER ID 401752).
41235780
42711359
1475580
GRCh38
Duplication
No
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseFamB-2
17 yrs.
M
Obsessive-compulsive disorder, developmental delay, and intellectual disability
Large for gestational age (birth weight 95th %ile), moderate developmental delay/intellectual disability, delayed ability to walk (19 months), speech delay (first words at 2 years 6 months), mild widening of the cerebellar fissures on brain MRI, anxiety, obsessive-compulsive disorder, dark circles under the eyes, hypotelorism, keratoconus, hearing loss (due to cholesteatoma), spiral fingers
Mild intellectual disability (WISC IQ score of 54 at 10 years)
42074313
42521148
446836
GRCh38
Duplication
Yes
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseFamC-3
8 yrs. 10 mos.
M
ADHD and oppositional defiant disorder
Birth length greater than 97th percentile (99th %ile), a discrete border in T2 hyperintensity in the white matter under the bilateral insular cortex, pineal cyst, anxiety, ADHD, oppositional defiant disorder (ODD), feeding difficulties, astigmatism. Family history: duplication was not observed in this patient's affected brother.
IQ 91
42108674
42884053
775380
GRCh38
Duplication
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
42508600
42550874
42275
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
42508600
42547636
39037
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-315-1
ASD
41107568
41135413
27846
Unknown
Deletion
No
poultney_13_ASD_discovery_cases-case01HI2165A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU084503; NDAR ID NDAR_INVEM293ETW)
43068408
43075588
7181
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI2802A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU067403; NDAR ID NDAR_INVMW859JCC)
42512908
42518149
5242
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2908A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1097302; NDAR ID NDAR_INVFK244CGQ)
49190
53134
3945
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3164A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0597302; NDAR ID NDAR_INVVY213RWC)
42518003
42596367
78365
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case137573L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
41110915
41226843
115929
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case143178
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
39478866
39494811
15946
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
41795489
41795904
416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
42561282
42569661
8380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11124.p1
11.1
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
42533925
42574509
40585
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11297.p1
12.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ 73
51286
57549
6264
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
42510298
42554027
43730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
42561282
42569661
8380
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
41181960
41231069
49110
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
42643223
42721592
78370
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
42521148
42554027
32880
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11828.p1
5.5
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 89; verbal IQ, 56
42392310
42500468
108159
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12162.p1
4.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12187.p1
7.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
43118368
43122816
4449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12306.p1
8.4
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 57; verbal IQ, 84
42521148
42554027
32880
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
41188347
41210026
21680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12381.p1
6.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 64; verbal IQ, 79
48651
57549
8899
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
42484955
42536311
51357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12679.p1
9.7
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 110; verbal IQ, 93
43709896
43718981
9086
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
48651
53049
4399
GRCh38
Deletion
No
simenson_13_ID/ASD/EP_discovery_cases-case1
7.5 yrs.
M
ID and autistic features
Birth/neonatal history: born after uneventful pregnancy at term by planned C-section (due to maternal age, at birth 43-year-old); birth weight of 3900g, Apgar score 9; patient spent 7 days after birth in neonatal care unit due to hyperbilirubinaemia and received phototherapy. Developmental milestones: started to walk at 12 months; spasticity and speech delay noticed on second year of life. Motor and musculoskeletal evaluation: brachydactyly, clinodactyly of 5th fingers, wide T1, syndactyly of the T2-3, clinodactyly of T4-5, excessive lumbar lordosis, hypermobile joints, slightly elevated muscle tone (right side > left side) with exaggerated deep tendon reflexes, occasional toe-walking and overall motor clumsiness with remarkable deficiency in fine motor skills (absent pincer grasp). Behavioral/psychiatric evaluation: evaluation with Autism Diagnostic Interview (ADI, completed by patient's mother), but no formal diagnosis of ASD reported; autistic behavior and occasional aggressiveness became evident in kindergarten; hospitalized at age of 4 years 11 months for investigations due to speech problems and behavioral disturbances (hyperactivity, stubbornness, occasional aggression, bouts of screaming, daytime wetting and defecation); treatment with carbamazepine resulted in improved behavior and reduced daytime pant-wetting accidents. Epilepsy/seizures: focal epilepsy diagnosed at age of 4 years 11 months, treatment with carbamazepine started at this time. EEG: awake and sleep EEG showed focal epileptiform discharges bilaterally from occipital areas, with spikes and spike-waves more frequent when asleep, at age of 4 years 11 months; EEG at age of 7 years revealed monotonous slow background activity with multifocal and generalized paroxysmal epileptiform discharges present when awake and asleep. Brain imaging: brain MRI revealed right temporal choroidal fissure cyst and white matter signal hyperintensities on T2 images in left frontal periventricular area at age of 4 years 11 months, follow-up MRI at age of 7 years showed resolved previously observed white matter lesions; brain MRS at age of 4 years 11 months showed elevated choline peak from left parietal lobe white matter (probable delayed myelination), normal choline levels observed at age of 7 years. Recurrent infections: two episodes of bronchitis and an additional episode with enlargement of lymph nodes; suffered from staphylococcal furunculosis complicated by inguinal pustular lymphadenitis, which resolved quickly after antibiotic treatment. Other features: elevated levels of immunoglobin E (IgE) and blood eosinophil detected at age of 5 years 11 months with subsequent aggravation of urticarial rash (medium allergy to cow milk and coconut, high allergy to wheat and tomato determined by skin prick tests at this time); laboratory investigations at age of 7 years showed elevated eosinophil, IgM, and IgE counts. Dysmorphic features: slight facial asymmetry, bilateral ptosis with puffy eyelids, bulbous nasal tip, high palate, short lingual frenulum, relatively large and dysmorphic ears, increased salivation, urticarial rash. Growth parameters: height of 128.5 cm (+1 SD), weight of 24.5 kg (0 SD), and head circumference of 53 cm (0 SD) at age of 7 years; height of 114.5 cm (+1 SD), weight of 20.5 kg (+1 SD) and head circumference of 52 cm (0 SD) at age of 4 years 11 months. Family history: only child of healthy non-consanguineous parents; both parents have healthy children from previous marriages.
Mild-to-moderate ID; developmental level evaluated using Wechsler Intelligence Scale for Children (WISC-III) and the Griffiths Mental Development Scales at age of 5 years 11 months. Mental development (as measured by Leiter scale) at age of 4 years 11 months determined to be 3.5 years.
41800463
42521148
720686
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family9_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Concordant NDD diagnostic group
40861127
40895726
34600
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case628
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
42559770
42570410
10641
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case629
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
43678303
43716965
38663
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_discovery_controls-controlSSC10384
N/A
M
Control
Control from SSC_phase1 cohort
41614714
41658088
43375
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
N/A
N/A
Control
No previous psychiatric history
42452348
42516716
64369
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
N/A
N/A
Control
No previous psychiatric history
42783160
42990816
207657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB829071_1007853943
N/A
N/A
Control
No previous psychiatric history
42510298
42574509
64212
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
N/A
N/A
Control
No previous psychiatric history
42484955
42554027
69073
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
N/A
N/A
Control
No previous psychiatric history
42510298
42554027
43730
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
N/A
N/A
Control
No previous psychiatric history
42397557
42500468
102912
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
N/A
N/A
Control
No previous psychiatric history
42510298
42554027
43730
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900917_900917
N/A
N/A
Control
No previous psychiatric history
42510298
42554027
43730
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
N/A
N/A
Control
No previous psychiatric history
42510298
42554027
43730
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
N/A
N/A
Control
No previous psychiatric history
42521148
42575993
54846
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
N/A
N/A
Control
No previous psychiatric history
42510298
42554027
43730
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13625.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13625. SRS score of 42.
42560185
42566338
6154
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11316.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42587572
27388
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11360.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12083.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
41784338
41825823
41486
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12367.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12478.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12526.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12582.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12610.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560175
42571214
11040
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12850.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
42560185
42566338
6154
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14076.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
41620745
41657034
36290
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-controlPN400248
N/A
F
Control
Non-autism control
42090599
42122512
31914
GRCh38
Deletion
No
leblond_19_ASD_discovery_controls-siblingPN400186
N/A
M
Control
Unaffected sibling of an ASD case
42090599
42122512
31914
GRCh38
Deletion
No
leblond_19_ASD_discovery_controls-siblingPN400240
N/A
F
Control
Unaffected sibling of an ASD case
42090599
42122512
31914
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12083.s1
NA
F
Control
NA
NA
41782669
41830176
47508
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C45836
N/A
M
Control
NIMH Control (NIMH ID 26071)
42070280
42090824
20545
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
43098725
43104206
5482
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
42510298
42575993
65696
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11307.s1
13.1
M
Control (matched sibling)
NA
NA
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
43590261
43594953
4693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
42561282
42569661
8380
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
51990
57549
5560
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
42643223
42721592
78370
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
42510298
42554027
43730
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
41781812
41822852
41041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12162.s1
11
F
Control (matched sibling)
NA
NA
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
43118368
43122816
4449
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12343.s1
8
F
Control (matched sibling)
NA
NA
42510298
42554027
43730
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12390.s1
4.3
M
Control (matched sibling)
NA
NA
40978676
40989513
10838
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
42484955
42533925
48971
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12655.s1
18.3
M
Control (matched sibling)
NA
NA
40531
57549
17019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
48651
57549
8899
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
42521148
42554027
32880
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU3399302
No validation step reported
Paternal
EP300-AS1,EP300
brandler_18_ASD_replication_cases-caseAU3399303
No validation step reported
Paternal
EP300-AS1,EP300
engchuan_15_ASD_discovery_cases-case14042_730
Unknown
SERHL,NFAM1,RRP7A
engchuan_15_ASD_discovery_cases-case3378_4
Unknown
ST13
engchuan_15_ASD_discovery_cases-case6180_4
Unknown
LINC01315,NFAM1
gai_11_ASD_replication_cases-AU084503
Inherited
TTLL1
gai_11_ASD_replication_cases-AU084505
Inherited
TTLL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000897
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-379P,MIR1281,RNU6-375P,LRRC37A14P,MIR6889,DNAJB7,RBX1,EP300-AS1,L3MBTL2,CHADL,RANGAP1,ZC3H7B,EP300,XPNPEP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000898
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-379P,MIR1281,RNU6-375P,LRRC37A14P,MIR6889,DNAJB7,RBX1,EP300-AS1,L3MBTL2,CHADL,RANGAP1,ZC3H7B,EP300,XPNPEP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001982
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-379P,ST13,DNAJB7,RBX1,XPNPEP3
kanduri_15_ASD_discovery_cases-case1920
Paternal
Unknown
Unknown
ARFGAP3,PACSIN2,TTLL1
kanduri_15_ASD_discovery_cases-case1991
Maternal
Unknown
Unknown
ARFGAP3
krumm_13_ASD_discovery_cases-case11654.p1
Paternal
Simplex
Not segregated
RN7SKP80,SERHL2,RRP7BP
krumm_13_ASD_discovery_cases-case11828.p1
Solid phase hybridization (Illumina 1M)
Maternal
Simplex
Segregated
SERHL,NFAM1
krumm_13_ASD_discovery_cases-case13116.p1
Paternal
Simplex
Not segregated
RN7SKP80,SERHL2,RRP7BP
krumm_13_ASD_discovery_cases-case13625.p1
Paternal
Simplex
Not segregated
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_cases-case11391.p1
Illumina 1M
Maternal
Simplex
Segregated
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_cases-case11653.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
L3MBTL2,CHADL
krumm_15_ASD_discovery_cases-case11828.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NFAM1
krumm_15_ASD_discovery_cases-case12007.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_cases-case12231.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NAGA
krumm_15_ASD_discovery_cases-case12420.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_cases-case12775.p1
1M-Duov3
Paternal
Simplex
Segregated
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_cases-case13012.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SLC25A17
krumm_15_ASD_discovery_cases-case13688.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MCAT,TSPO,TTLL12,BIK
krumm_15_ASD_discovery_cases-case13984.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ARFGAP3
krumm_15_ASD_discovery_cases-case14076.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
DESI1,XRCC6
krumm_15_ASD_discovery_cases-case14160.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
NAGA
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER269435
Unknown
Unknown
CYB5R3,CYP2D7,CYP2D6,CYP2D8P,ARFGAP3,RRP7A,A4GALT,SEPTIN3,CENPM,POLDIP3,RRP7BP,SMDT1,SERHL,TNFRSF13C,PHETA2,NFAM1,WBP2NL,OLA1P1,ATP5MGL,SERHL2,RNU12,SLC25A5P1,RPL5P34,OGFRP1,MIR33A,SHISA8,NDUFA6,NAGA,NDUFA6-DT,MIR378I,GOLGA2P4,SNORD13P1,LINC01315,RN7SKP80,TCF20,SREBF2,RNU6-513P,PACSIN2
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER283060
Maternal
Unknown
MPPED1,BIK,TSPO,CYB5R3,ARFGAP3,RRP7A,MCAT,A4GALT,POLDIP3,SCUBE1,RRP7BP,SERHL,NFAM1,ATP5MGL,SERHL2,RNU12,RPL5P34,TTLL1-AS1,GOLGA2P4,SCUBE1-AS1,LINC01315,LINC01639,SCUBE1-AS2,RN7SKP80,TCF20,RNU6-513P,PACSIN2,TTLL12,TTLL1
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseDECIPHER401752
De novo
ACO2,CYB5R3,CYP2D7,CYP2D6,CYP2D8P,DESI1,CSDC2,RRP7A,A4GALT,SEPTIN3,C22orf46,CENPM,CCDC134,POLDIP3,PHF5A,RRP7BP,SMDT1,SERHL,TNFRSF13C,PHETA2,MEI1,NFAM1,CHADL,WBP2NL,POLR3H,XRCC6,OLA1P1,ATP5MGL,SERHL2,RNU12,SLC25A5P1,OGFRP1,MIR33A,SHISA8,NDUFA6,SNU13,NAGA,NDUFA6-DT,MIR378I,RANGAP1,PMM1,SNORD13P1,LINC01315,MIR6889,RN7SKP80,TCF20,SREBF2,TEF,RNU6-476P,RNU6ATAC22P,RNU6-513P,RNU6-495P,SREBF2-AS1,TOB2,ZC3H7B,HMGN2P10
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseFamB-2
qPCR
De novo
Simplex
Segregated
CYP2D7,CYP2D6,CYP2D8P,RRP7A,SMDT1,SERHL,PHETA2,NFAM1,OLA1P1,OGFRP1,NDUFA6,NDUFA6-DT,SNORD13P1,LINC01315,TCF20
levy_21_ASD/ADHD/DD/ID_discovery_cases-caseFamC-3
qPCR
De novo
Multiplex
Not segregated
CYB5R3,CYP2D7,CYP2D6,CYP2D8P,ARFGAP3,RRP7A,A4GALT,POLDIP3,RRP7BP,SERHL,NFAM1,OLA1P1,ATP5MGL,SERHL2,RNU12,RPL5P34,OGFRP1,NDUFA6-DT,GOLGA2P4,LINC01315,RN7SKP80,TCF20,RNU6-513P,PACSIN2
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
SERHL,RRP7A
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
SERHL,RRP7A
nord_11_ASD_discovery_cases-315-1
Paternal
NFAM1
poultney_13_ASD_discovery_cases-case01HI2165A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TTLL1
poultney_13_ASD_discovery_cases-case04HI2802A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RRP7A
poultney_13_ASD_discovery_cases-case04HI2908A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case04HI3164A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP,POLDIP3
prasad_12_ASD_discovery_cases-case137573L
Unknown
Unknown
Unknown
NFAM1,SERHL
prasad_12_ASD_discovery_cases-case143178
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11060.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MEI1
sanders_11_ASD_discovery_cases-11079.p1
Maternal
Simplex (quad-proband matched)
Segregated
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Segregated
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-11124.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
sanders_11_ASD_discovery_cases-11235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-11297.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11363.p1
Unknown
Simplex (trio)
NA
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-11391.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-11479.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11516.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-11590.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
sanders_11_ASD_discovery_cases-11653.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LRRC37A14P,EP300-AS1,L3MBTL2,CHADL
sanders_11_ASD_discovery_cases-11694.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYB5R3,A4GALT
sanders_11_ASD_discovery_cases-11724.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SERHL2
sanders_11_ASD_discovery_cases-11828.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NFAM1
sanders_11_ASD_discovery_cases-11962.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_cases-12162.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12187.p1
Paternal
Simplex (quad-proband matched)
Not segregated
BIK
sanders_11_ASD_discovery_cases-12306.p1
Paternal
Simplex (trio)
NA
SERHL2
sanders_11_ASD_discovery_cases-12337.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LRRC37A14P,EP300-AS1,L3MBTL2
sanders_11_ASD_discovery_cases-12381.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12515.p1
Unknown
Simplex (quad-proband matched)
Segregated
SERHL,RRP7A
sanders_11_ASD_discovery_cases-12679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
EFCAB6
sanders_11_ASD_discovery_cases-13060.p1
Paternal
Simplex (trio)
NA
simenson_13_ID/ASD/EP_discovery_cases-case1
De novo
Simplex
Likely segregated
SREBF2-AS1,MIR33A,MIR378I,LINC00634,SLC25A5P1,NAGA,PHETA2,SNORD13P1,SMDT1,OLA1P1,CYP2D6,CYP2D7,CYP2D8P,SERHL,SREBF2,SHISA8,TNFRSF13C,SEPT3,WBP2NL,NDUFA6,NDUFA6-DT,OGFRP1,LINC01315,NFAM1,RRP7A,CCDC134,TCF20,CENPM
stamouli_18_ASD/NDD_discovery_cases-family9_Twin_2
Maternal
Multiplex
Not segregated (CNV not present in affected twin)
DNAJB7,XPNPEP3
yin_16_ASD_discovery_cases-case628
Unknown
Unknown
Unknown
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
yin_16_ASD_discovery_cases-case629
Unknown
Unknown
Unknown
EFCAB6
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC10384
PCR or SNP data validation
Maternal
DESI1,XRCC6
engchuan_15_ASD_discovery_controls-controlB334576_1007843533
Unknown
SERHL,RRP7A
engchuan_15_ASD_discovery_controls-controlB352015_1007874446
Unknown
GOLGA2P4,ARFGAP3,PACSIN2
engchuan_15_ASD_discovery_controls-controlB829071_1007853943
Unknown
SERHL,RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
Unknown
SERHL,RRP7A,SERHL2
engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
Unknown
SERHL,RRP7A,SERHL2
engchuan_15_ASD_discovery_controls-controlHABC_900461_900461
Unknown
NFAM1
engchuan_15_ASD_discovery_controls-controlHABC_900615_900615
Unknown
SERHL,RRP7A,SERHL2
engchuan_15_ASD_discovery_controls-controlHABC_900917_900917
Unknown
SERHL,RRP7A,SERHL2
engchuan_15_ASD_discovery_controls-controlHABC_901125_901125
Unknown
SERHL,RRP7A,SERHL2
engchuan_15_ASD_discovery_controls-controlHABC_902654_902654
Unknown
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
Unknown
SERHL,RRP7A,SERHL2
krumm_13_ASD_discovery_controls-control13625.s1
Paternal
Simplex
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control11316.s1
Illumina 1M
Paternal
RN7SKP80,RNU6-513P,SERHL2,RRP7BP,POLDIP3
krumm_15_ASD_discovery_controls-control11360.s1
Illumina 1M
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12083.s1
Illumina 1MDuo
Paternal
MEI1,CCDC134
krumm_15_ASD_discovery_controls-control12367.s1
Illumina 1MDuo
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12478.s1
Illumina 1MDuo
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12526.s1
1M-Duov3
Maternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12582.s1
Illumina 1MDuo
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12610.s1
Illumina 1MDuo
Maternal
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12850.s1
1M-Duov3
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
Paternal
RN7SKP80,SERHL2,RRP7BP
krumm_15_ASD_discovery_controls-control14076.s1
Omni2.5-4v1
Maternal
DESI1,XRCC6
leblond_19_ASD_discovery_controls-controlPN400248
Unknown
OLA1P1,NDUFA6,NDUFA6-DT
leblond_19_ASD_discovery_controls-siblingPN400186
Unknown
OLA1P1,NDUFA6,NDUFA6-DT
leblond_19_ASD_discovery_controls-siblingPN400240
Unknown
OLA1P1,NDUFA6,NDUFA6-DT
levy_11_ASD_discovery_controls-12083.s1
Paternal
Simplex
NA
MEI1,CCDC134
poultney_13_ASD_discovery_controls-control05C45836
Unknown
NAGA,PHETA2,SNORD13P1,SMDT1,NDUFA6
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
SERHL,RN7SKP80,RNU6-513P,RRP7A,SERHL2,RRP7BP
sanders_11_ASD_discovery_controls-11307.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Paternal
Simplex (quad)
NA
EFCAB6
sanders_11_ASD_discovery_controls-11346.s1
Unknown
Simplex (quad)
NA
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_controls-11590.s1
Maternal
Simplex (quad)
NA
RN7SKP80,RNU6-513P,SERHL2,RRP7BP
sanders_11_ASD_discovery_controls-11657.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11694.s1
Maternal
Simplex (quad)
NA
CYB5R3,A4GALT
sanders_11_ASD_discovery_controls-11962.s1
Both parents
Simplex (quad)
NA
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_controls-12083.s1
Paternal
Simplex (quad)
NA
MEI1,CCDC134
sanders_11_ASD_discovery_controls-12162.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
BIK
sanders_11_ASD_discovery_controls-12339.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12343.s1
Both parents
Simplex (quad)
NA
SERHL,RRP7A,SERHL2
sanders_11_ASD_discovery_controls-12390.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Paternal
Simplex (quad)
NA
SERHL,RRP7A
sanders_11_ASD_discovery_controls-12655.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12787.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
SERHL2
No Animal Model Data Available