4q25CNV Type: Deletion-Duplication
Largest CNV size: 387696 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
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...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Behavioural phenotype of a patient with a de novo 1.2Mb chromosome 4q25 microdeletion.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
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
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
215000
0
1
1
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
71444
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
72617
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
372650
0
1
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
369836
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
375000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
189900
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
336175
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
336175
1
2
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
387696
1
1
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
1800000
0
2
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
39268
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
1064265
0
1
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
6654
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
382760
36
1
37
teunissen_23_ASD/DD/ID_discovery_cases
Individuals with microdeletions affecting the ANK2 gene from an initial cohort of 12 individuals with heterozygous ANK2 variation.
2
Both cases presented with autism spectrum disorder (ASD); one case also presented with mild developmental delay/intellectual disability.
Range, 9-12 yrs.
Female
357699
1
0
1
verhoeven_13_ID_discovery_cases
First child of non-consanguineous parents with no family history of intellectual disability, congenital anomalies, or neuropsychiatric disorders
1
Mild intellectual disability and behavioral abnormalities, including autistic behaviors (social withdrawal, ritualistic behaviors, and stereotypies)
20 yrs.
Female
1200000
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
2841027
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
367143
2
1
3
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
369836
0
0
0
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
336175
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
336175
1
2
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
387696
1
1
2
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)
433502
1
0
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)
6654
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.
382760
40
1
41
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
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
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_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
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
teunissen_23_ASD/DD/ID_discovery_cases
NA
CMA, WES
NA
NA
NA
None
verhoeven_13_ID_discovery_cases
Netherlands
Array SNP
Affymetrix 250K NspI
CNAG v3.0
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case61006
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
112626492
112841505
215014
GRCh38
Duplication
Yes
brandler_18_ASD_replication_cases-case3-0016-000
N/A
F
ASD
Case from MSSNG cohort
113050632
113122075
71444
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14239_2920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
109346869
109419486
72618
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0714301
Autism
113595238
113967887
372650
Unknown
Duplication
No
girirajan_11_ASD_discovery_cases-Si311
7
M
Autism
ADOS score: 8. Vineland composite score: 67.
Mild mental retardation/intellectual disability. Full-scale IQ, 69; Verbal IQ, 59; Non-verbal IQ, 59.
107570793
107940630
369838
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11190.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
107579394
107949395
370002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002065
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
109800241
109990141
189901
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11190.p1
N/A
M
ASD
ASD proband from SSC quad family 11190. SRS score of 80.
Full-scale IQ (FSIQ) score of 69.
107614248
107950423
336176
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11190.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
107614248
107950423
336176
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11868.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
112563130
112620190
57061
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13802.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
112758695
112807270
48576
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11190.p1
NA
M
ASD
NA
NA
107568226
107955922
387697
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11868.p1
NA
M
ASD
NA
NA
112568005
112622618
54614
GRCh38
Deletion
No
napoli_17_ASD_discovery_cases-case36
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
110834848
112689283
1854436
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case37
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
110834848
112689283
1854436
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-201-1
ASD
112981589
113020856
39268
Unknown
Deletion
No
o'roak_12_ASD_discovery_cases-case11190.p1
NA
M
ASD/Autism
No additional clinical info available.
Low IQ. Non verbal IQ, 59
106925798
107990064
1064267
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case67839
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
109725287
109731940
6654
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
110391729
110405801
14073
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
107572177
107954938
382762
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11400.p1
8.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 103
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11413.p1
13.4
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11490.p1
11.4
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 101; verbal IQ, 57
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
107144581
107152053
7473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
111376259
111386201
9943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11552.p1
9.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11565.p1
10.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 109
107144581
107152053
7473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11766.p1
6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 96
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
112564216
112624951
60736
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
111212960
111232205
19246
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11901.p1
10.3
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
109362552
109376490
13939
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
107144581
107152053
7473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12369.p1
7.3
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 59; verbal IQ, 50
110391729
110405801
14073
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
107144581
107152053
7473
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12685.p1
16
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12729.p1
17
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13195.p1
8.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 88; verbal IQ, 63
111376259
111386201
9943
GRCh38
Deletion
No
teunissen_23_ASD/DD/ID_discovery_cases-case4
12 yrs.
F
ASD, developmental delay, and intellectual disability
Developmental milestones: mild developmental delay/intellectual disability. Motor and musculoskeletal evaluation: congenital hip dysplasia. Behavioral/psychiatric evaluation: autism spectrum disorder. Additional medical history: severe feeding difficulties necessitating PEG tube feeding.
Mild developmental delay/intellectual disability
112761018
113118716
357699
GRCh38
Deletion
No
verhoeven_13_ID_discovery_cases-case1
20 yrs.
F
Intellectual disability and behavioral abnormalities
Birth/neonatal history: uncomplicated pregnancy; normal (0 SD) brain weight and length; no congenital anomalies observed; accelerated head growth during first months (not caused by hydrocephalus); no feeding problems or sleep disturbances. Developmental milestones: developmental and psychomotor delay apparent from early infancy onward; walking a age of 2 years; learning problems; normal speech development. Motor and musculoskeletal evaluation: hyperlaxity of joints of upper extremities; marked general hypotonia with symmetric tendon reflexes of arms and legs. Behavioral/psychiatric evaluation: no formal pyschiatric diagnosis; most recent psychiatric evaluation revealed obsessive ritualistic behaviors with perservations and stereotypies, as well as vague ideas of reference and "auditory hallucinations" (complaints about hearing voices in her head) and marked incongruence between high social alertness and low understanding of social situations; previous psychiatric evaluations revealed social withdrawal behavior and other challenging behaviors. Brain imaging: two minor left frontal white matter lesions detected on brain MRI. Dysmorphic features: broad neck, low posterior hairline, small ears, deeply set eyes, slightly asymmetric mandible, mild hypertelorism with short palpebral fissures, narrow mouth, long thin fingers with bilateral mild short V metacarpals. Growth parameters: height of 55 cm (-1 SD), weight of 60 kg (W/L ratio, 0 SD), and head circumference of 168 cm (-0.5 SD); all within normal range. Family history: first child of non-consanguineous parents; younger sister who underwent surgical extirpation of nephroblastoma at age of 12 years; 14-year-old younger brother is healthy; no family history of intellectual disability, congenital anomalies, or neuropsychiatric disorders.
Mild intellectual disability; developmental age of 3 years 1 month (Vineland Screener), with corresponding levels of cognitive functioning
109180020
110416708
1236689
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0772-000
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
110187864
113028890
2841027
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
N/A
N/A
Control
No previous psychiatric history
107297005
107469342
172338
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
N/A
N/A
Control
No previous psychiatric history
108545940
108913083
367144
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902458_902458
N/A
N/A
Control
No previous psychiatric history
111343334
111529719
186386
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11190.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11190. SRS score of 55.
107614248
107950423
336176
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11190.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
107614248
107950423
336176
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11868.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
112581662
112620190
38529
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13802.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
112758695
112807270
48576
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11190.s1
NA
F
Control
NA
NA
107568226
107955922
387697
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11868.s1
NA
F
Control
NA
NA
112568005
112622618
54614
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40827A
N/A
M
Control
NIMH Control (NIMH ID 27792)
112186691
112620192
433502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
111283094
111304932
21839
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11120.s1
11.3
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11190.s1
6.8
F
Control (matched sibling)
NA
NA
107572177
107954938
382762
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11200.s1
9.5
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11257.s1
4.1
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11376.s1
23.8
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
107138872
107152680
13809
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11490.s1
9.8
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11498.s1
5.9
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11542.s1
14.6
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
107138872
107150301
11430
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
112568031
112631355
63325
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11895.s1
4
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11897.s1
8
M
Control (matched sibling)
NA
NA
111212960
111232205
19246
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11901.s1
7.5
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12346.s1
15
M
Control (matched sibling)
NA
NA
111964640
111969258
4619
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12369.s1
4.2
F
Control (matched sibling)
NA
NA
110391729
110405801
14073
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12437.s1
14.1
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
107144581
107152053
7473
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12685.s1
12.8
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
111376259
111386201
9943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
107144581
107152680
8100
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
109037839
109059218
21380
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case61006
MLPA
Maternal
Unknown
Unknown
MIR367,MIR302D,MIR302A,MIR302C,MIR302B,OSTCP4,WRBP1,RPL7AP30,LARP7,ZGRF1,ANK2
brandler_18_ASD_replication_cases-case3-0016-000
No validation step reported
Paternal
MIR1243,ANK2
engchuan_15_ASD_discovery_cases-case14239_2920
Unknown
RBMXP4,SEC24B-AS1
gai_11_ASD_discovery_cases-AU0714301
Inherited
NEUROG2, C4orf21, LARP7, ANK2
girirajan_11_ASD_discovery_cases-Si311
Unknown
Simplex
RNU6-733P,CYP2U1,PAPSS1,SGMS2
girirajan_13a_ASD_discovery_cases-11190.p1
Unknown
Simplex
Unknown
RNU6-733P,CYP2U1,PAPSS1,SGMS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002065
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT19P3,CFI,GAR1,LRIT3,RRH,EGF
krumm_13_ASD_discovery_cases-case11190.p1
Paternal
Simplex
Not segregated
RNU6-733P,CYP2U1,PAPSS1,SGMS2
krumm_15_ASD_discovery_cases-case11190.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-733P,CYP2U1,PAPSS1,SGMS2
krumm_15_ASD_discovery_cases-case11868.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ZGRF1
krumm_15_ASD_discovery_cases-case13802.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RPL7AP30
levy_11_ASD_discovery_cases-11190.p1
Paternal
Simplex
Not segregated
RNU6-733P,CYP2U1,PAPSS1,SGMS2
levy_11_ASD_discovery_cases-11868.p1
Maternal
Simplex
Not segregated
ZGRF1
napoli_17_ASD_discovery_cases-case36
RT-PCR
De novo
MIR297,LYPLA1P2,RNU6-289P,CCDC34P1,TUBB8P3,RTEL1P1,TOX4P1,NEUROG2,RPL23AP94,MIR367,MIR302D,MIR302A,MIR302C,MIR302B,OSTCP4,FAM241A,AP1AR,TIFA,LARP7,ALPK1,ZGRF1
napoli_17_ASD_discovery_cases-case37
RT-PCR
De novo
MIR297,LYPLA1P2,RNU6-289P,CCDC34P1,TUBB8P3,RTEL1P1,TOX4P1,NEUROG2,RPL23AP94,MIR367,MIR302D,MIR302A,MIR302C,MIR302B,OSTCP4,FAM241A,AP1AR,TIFA,LARP7,ALPK1,ZGRF1
nord_11_ASD_discovery_cases-201-1
Paternal
0 genes
o'roak_12_ASD_discovery_cases-case11190.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RAC1P5,RNU6-551P,RNU6-733P,CYP2U1,PAPSS1,SGMS2,DKK2,HADH
prasad_12_ASD_discovery_cases-case67839
Unknown
Unknown
Unknown
LOC285456
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
DKK2
sanders_11_ASD_discovery_cases-11050.p1
Unknown
Simplex (trio)
NA
RPL7L1P13,ENPEP
sanders_11_ASD_discovery_cases-11098.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11120.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11190.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-733P,CYP2U1,PAPSS1,SGMS2
sanders_11_ASD_discovery_cases-11200.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11227.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11331.p1
Maternal
Simplex (trio)
NA
DKK2
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
DKK2
sanders_11_ASD_discovery_cases-11371.p1
Maternal
Simplex (trio)
NA
DKK2
sanders_11_ASD_discovery_cases-11400.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11413.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11490.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11552.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11565.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
DKK2
sanders_11_ASD_discovery_cases-11590.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11698.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
DKK2
sanders_11_ASD_discovery_cases-11766.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-11868.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZGRF1
sanders_11_ASD_discovery_cases-11897.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11901.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12033.p1
Unknown
Simplex (quad-proband matched)
Segregated
SEC24B-AS1
sanders_11_ASD_discovery_cases-12044.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12210.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12369.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPL7L1P13,ENPEP
sanders_11_ASD_discovery_cases-12404.p1
Both parents
Simplex (trio)
NA
DKK2
sanders_11_ASD_discovery_cases-12603.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12685.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12729.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DKK2
sanders_11_ASD_discovery_cases-13195.p1
Both parents
Simplex (quad-proband matched)
Not segregated
teunissen_23_ASD/DD/ID_discovery_cases-case4
Unknown
ANK2,RPL7AP30,MIR1243,ANK2-AS1
verhoeven_13_ID_discovery_cases-case1
De novo
Simplex
Likely segregated
RN7SL55P,MIR576,SETP20,CDC42P4,HIGD1AP14,KRT19P3,RNU6-35P,RN7SL275P,HSBP1P2,RNU6-205P,ZBED1P1,RPL7L1P13,ZNF969P,RBMXP4,SEC24B-AS1,CASP6,PLA2G12A,CFI,GAR1,LRIT3,ZCCHC23,SEC24B,MCUB,RRH,EGF,ENPEP,ELOVL6,COL25A1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0772-000
RT-qPCR or WGS
Unknown
HSBP1P2,RNU6-205P,ZBED1P1,RPL7L1P13,ZNF969P,LINC01438,MIR297,LYPLA1P2,RNU6-289P,CCDC34P1,TUBB8P3,TOX4P1,NEUROG2,RPL23AP94,MIR302CHG,MIR367,MIR302D,MIR302A,MIR302C,MIR302B,OSTCP4,WRBP1,RPL7AP30,PANCR,FAM241A,AP1AR,TIFA,RTEL1P1,LARP7,ENPEP,PITX2,ALPK1,ZGRF1,ELOVL6,ANK2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB553658_1007850198
Unknown
RNU6-551P
engchuan_15_ASD_discovery_controls-controlHABC_900904_900904
Unknown
RNU6-431P,RPL34-AS1,RPL34,ETNPPL,OSTC,RCC2P8,COL25A1
engchuan_15_ASD_discovery_controls-controlHABC_902458_902458
Unknown
krumm_13_ASD_discovery_controls-control11190.s1
Paternal
Simplex
RNU6-733P,CYP2U1,PAPSS1,SGMS2
krumm_15_ASD_discovery_controls-control11190.s1
Illumina 1M
Paternal
RNU6-733P,CYP2U1,PAPSS1,SGMS2
krumm_15_ASD_discovery_controls-control11868.s1
Illumina 1MDuo
Maternal
ZGRF1
krumm_15_ASD_discovery_controls-control13802.s1
Omni2.5-4v1
Paternal
RPL7AP30
levy_11_ASD_discovery_controls-11190.s1
Paternal
Simplex
NA
RNU6-733P,CYP2U1,PAPSS1,SGMS2
levy_11_ASD_discovery_controls-11868.s1
Maternal
Simplex
NA
ZGRF1
poultney_13_ASD_discovery_controls-control05C40827A
Unknown
RTEL1P1,TOX4P1,NEUROG2,RPL23AP94,FAM241A,AP1AR,TIFA,ALPK1,ZGRF1
sanders_11_ASD_discovery_controls-11030.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11098.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11120.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11121.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11154.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11190.s1
Paternal
Simplex (quad)
NA
RNU6-733P,CYP2U1,PAPSS1,SGMS2
sanders_11_ASD_discovery_controls-11194.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11200.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11227.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11257.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11376.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11445.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11490.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11498.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11542.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11587.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11766.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11845.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
ZGRF1
sanders_11_ASD_discovery_controls-11895.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-11897.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11901.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12044.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12170.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12346.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12369.s1
Paternal
Simplex (quad)
NA
RPL7L1P13,ENPEP
sanders_11_ASD_discovery_controls-12437.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12685.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12832.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12879.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Paternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-12956.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-13018.s1
Maternal
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-13036.s1
Both parents
Simplex (quad)
NA
DKK2
sanders_11_ASD_discovery_controls-13128.s1
Both parents
Simplex (quad)
NA
COL25A1
No Animal Model Data Available