1p33CNV Type: Deletion-Duplication
Largest CNV size: 111884 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
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
194000
0
1
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
376257
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
128626
27
6
33
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
104244
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
145115
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
4532
1
4
5
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
19733
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
700000
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
66159
2
0
2
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
178654
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
77782
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
11849
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
85180
10
1
11
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)
27979
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
182223
2
0
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
69583
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
111884
59
10
69
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
402854
27
3
30
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
16801
1
3
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
42800
0
3
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
43260
0
1
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)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
182223
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.
442644
38
8
46
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
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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-case60482
N/A
M
NDD
Case with unspecified neurodevelopmental disorder
46366861
46561059
194199
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU005214
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
46992904
47369161
376257
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case13006_73
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48231554
48327549
95996
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13079_933
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48199926
48328552
128627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13098_1153
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48242556
48327549
84994
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13162_1793
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48356892
48403534
46643
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14000_30
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48181452
48223920
42469
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14080_1360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14195_3190
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48337933
48453519
115587
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)
49447388
49532567
85180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14244_3680
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14246_3700
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16077_1571056001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
46470751
46542172
71422
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2160_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2295_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3263_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3313_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3377_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48349518
48403534
54017
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4050_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4282_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4394_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5007_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5037_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5042_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5135_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50891893
50924991
33099
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5201_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5304_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5431_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6137_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49719403
49846155
126753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6248_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6321_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6341_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48972333
49084857
112525
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6370_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49296746
49382189
85444
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6416_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8581_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49450176
49532567
82392
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject2
9 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: extremely severe delays in gross motor skill development, fine motor skill development, language development, social communication development, and adaptivity. Language and communication evaluation: unable to make sentences, language ability equivalent to 18 months. Behavioral/psychiatric evaluation: no autistic behaviors reported. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: overgrowth (height and weight both > 97th %ile), macrocephaly (head circumference +2 SD ~ +3 SD).
Extremely severe intellectual disability
49754445
49858688
104244
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D0894
2 yrs. 10 mos.
F
Developmental delay
Facial dysmorphism
49211508
49356622
145115
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case11146.p1
N/A
M
ASD
ASD proband from SSC quad family 11146. SRS score of 90.
Full-scale IQ (FSIQ) score of 85.
48399350
48403882
4533
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12394.p1
N/A
M
ASD
ASD proband from SSC quad family 12394. SRS score of 77.
Full-scale IQ (FSIQ) score of 88.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12396.p1
N/A
M
ASD
ASD proband from SSC quad family 12396. SRS score of 90.
Full-scale IQ (FSIQ) score of 99.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13590.p1
N/A
M
ASD
ASD proband from SSC quad family 13590. SRS score of 90.
Full-scale IQ (FSIQ) score of 86.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13809.p1
N/A
M
ASD
ASD proband from SSC quad family 13809. SRS score of 77.
Full-scale IQ (FSIQ) score of 61.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case13901.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
46799081
46818814
19734
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU1756303
N/A
M
ASD
47050328
47751328
701001
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case16.1
N/A
N/A
Autism
No additional clinical information available
49456304
49522463
66160
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case16.2
N/A
N/A
Autism
No additional clinical information available
49456304
49522463
66160
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
22 months
M
Anxiety disorder
Speech/language delay, autism/autistic behavior, anxiety disorder. Dysmorphic features and congenital anomalies: no dysmorphic features by Dev Peds, generalized hypotonia, tonsils/adenoids removed, heart murmur, 3 holes in heart (healed without intervention). Family history: mother with deletion is neurotypical.
49217498
49396151
178654
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam1131Proband10787
N/A
M
ASD
Additional clinical profile info N/A
ID
49453505
49531287
77783
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-207-1
ASD
49370267
49382115
11849
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case14080_1360
NA
F
Autism
No language, neurodevelopmental delay, no dysmorphic features, no epilepsy, sleep problems
Moderate MR
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14239_2920
NA
M
Autism
Phrase speech delay, no epilepsy, no dysmorphic features
Normal IQ
49447388
49532567
85180
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14244_3680
NA
M
ASD
Phrase speech delay, no epilepsy, asthma, no dysmorphic features
Normal IQ
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14246_3700
NA
M
ASD
Phrase speech delay, no epilepsy, no dysmorphic features
Normal IQ
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5007_3
NA
M
Autism
Anxiety, language delay, no epilepsy, no dysmorphic features
Below average IQ
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5037_3
NA
M
ASD
NA
NA
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5042_4
NA
M
ASD
NA
NA
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5135_3
NA
M
ASD
NA
NA
50891893
50924991
33099
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5201_3
NA
F
ASD
NA
NA
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5304_3
NA
M
ASD
NA
NA
49450176
49532567
82392
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5431_4
NA
M
ASD
NA
NA
49450176
49532567
82392
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1274A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU066104; NDAR ID NDAR_INVVV950VBW)
47282343
47310321
27979
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case128963
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
49452379
49634601
182223
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case83553L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
49371854
49380288
8435
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-029
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
49045752
49115334
69583
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11097.p1
5.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
48397693
48403534
5842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11282.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 83
49447388
49532567
85180
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11298.p1
15.8
M
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 132; verbal IQ, 143
49450176
49532567
82392
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
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
49450176
49536493
86318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
49447388
49536493
89106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11470.p1
8.7
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 76
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
47416306
47417352
1047
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11571.p1
9.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 94; verbal IQ, 111
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11642.p1
5.3
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
47417089
47417352
264
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11665.p1
9.9
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 65
47417089
47417352
264
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11673.p1
6.3
M
Aspergers
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11677.p1
7.9
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
47416306
47417352
1047
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11924.p1
7.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 105; verbal IQ, 74
49330485
49351711
21227
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12025.p1
6.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 96; verbal IQ, 69
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12121.p1
8.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 134; verbal IQ, 110
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
47042136
47052718
10583
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
49450176
49536493
86318
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
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
49839374
49951258
111885
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
49450176
49536493
86318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12481.p1
5.6
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12602.p1
9.8
M
Aspergers
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 106
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
46983814
47002797
18984
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
49483334
49554177
70844
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
49124175
49163890
39716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12867.p1
16.7
F
ASD
NA
Full-scale IQ, 60; non-verbal IQ, 63; verbal IQ, 57
46898221
46961472
63252
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
47416306
47418097
1792
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036017648_
N/A
N/A
Control
No previous psychiatric history
49103962
49142514
38553
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018950_
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036019495_
N/A
N/A
Control
No previous psychiatric history
49823491
49853525
30035
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021954_
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023000_
N/A
N/A
Control
No previous psychiatric history
49447388
49532567
85180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB123947_1007876030
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB297614_1007874903
N/A
N/A
Control
No previous psychiatric history
49447388
49532567
85180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB328508_1007873324
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
N/A
N/A
Control
No previous psychiatric history
49447388
49532567
85180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB354740_0067942586
N/A
N/A
Control
No previous psychiatric history
48199926
48328552
128627
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB410585_1007840274
N/A
N/A
Control
No previous psychiatric history
47695953
47855549
159597
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
N/A
N/A
Control
No previous psychiatric history
50581243
50941912
360670
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
50564248
50636022
71775
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
N/A
N/A
Control
No previous psychiatric history
49447388
49532567
85180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
N/A
N/A
Control
No previous psychiatric history
49388176
49791030
402855
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900518_900518
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902482_902482
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
N/A
N/A
Control
No previous psychiatric history
48458452
48501330
42879
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
N/A
N/A
Control
No previous psychiatric history
49450176
49532567
82392
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
N/A
N/A
Control
No previous psychiatric history
49450176
49528828
78653
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
N/A
N/A
Control
No previous psychiatric history
49407367
49465077
57711
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11146.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11146. SRS score of 40.
48399350
48403882
4533
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control11203.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11203. SRS score of 53.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12396.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12396. SRS score of 51.
47046466
47050174
3709
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13447.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13447. SRS score N/A.
48222736
48239537
16802
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12274.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47251135
47263116
11982
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13412.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47251135
47263116
11982
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13528.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
47333945
47376745
42801
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11250.s1
NA
F
Control
NA
NA
48456854
48500113
43260
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
49544350
49559176
14827
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11146.s1
9.7
M
Control (matched sibling)
NA
NA
48397693
48403534
5842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11203.s1
4
F
Control (matched sibling)
NA
NA
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
48458452
48501330
42879
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11282.s1
8.8
M
Control (matched sibling)
NA
NA
49447388
49532567
85180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
47417089
47417352
264
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
49450176
49554177
104002
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11452.s1
6.8
M
Control (matched sibling)
NA
NA
49450176
49532567
82392
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
46312011
46399999
87989
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11476.s1
10.8
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11573.s1
10.3
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11592.s1
8
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11638.s1
14.4
M
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11715.s1
6.6
F
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
49326615
49351711
25097
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12007.s1
10.9
M
Control (matched sibling)
NA
NA
47416306
47418097
1792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
46632436
46655830
23395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
47416306
47417352
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
47042136
47057518
15383
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
49450176
49544350
94175
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
49450176
49536493
86318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
47042136
47058592
16457
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12667.s1
19.3
M
Control (matched sibling)
NA
NA
49442101
49536493
94393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
46898221
46961472
63252
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
47417089
47423745
6657
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
47434225
47460350
26126
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13174.s1
12.8
M
Control (matched sibling)
NA
NA
49568364
50011008
442645
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-case60482
MLPA
Paternal
Unknown
Unknown
FAAHP1,LINC01398,DMBX1,MKNK1-AS1,KNCN,MKNK1,FAAH
davis_09_ASD_discovery_cases-AU005214
Unknown
Unknown
Unknown
CYP4B1, CYP4A11, CYP4X1, CYP4Z1, CYP4A22, PDZK1IP1
engchuan_15_ASD_discovery_cases-case13006_73
Unknown
PPP1R8P1,SPATA6,SLC5A9
engchuan_15_ASD_discovery_cases-case13079_933
Unknown
PPP1R8P1,SPATA6,SLC5A9
engchuan_15_ASD_discovery_cases-case13098_1153
Unknown
PPP1R8P1,SPATA6,SLC5A9
engchuan_15_ASD_discovery_cases-case13162_1793
Unknown
SPATA6
engchuan_15_ASD_discovery_cases-case14000_30
Unknown
SKINT1L,SLC5A9
engchuan_15_ASD_discovery_cases-case14080_1360
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case14195_3190
Unknown
RNU6-723P,RNU4-61P,SPATA6
engchuan_15_ASD_discovery_cases-case14239_2920
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case14244_3680
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case14246_3700
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case16077_1571056001
Unknown
FAAHP1,DMBX1,MKNK1-AS1
engchuan_15_ASD_discovery_cases-case2160_1
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case2295_1
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case3263_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case3313_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case3377_3
Unknown
SPATA6
engchuan_15_ASD_discovery_cases-case4050_100
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case4282_1
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case4394_1
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5007_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5037_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5042_4
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5135_3
Unknown
FAF1
engchuan_15_ASD_discovery_cases-case5201_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5304_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case5431_4
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case6137_5
Unknown
ZNF859P,AGBL4
engchuan_15_ASD_discovery_cases-case6248_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case6321_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case6341_6
Unknown
AGBL4
engchuan_15_ASD_discovery_cases-case6370_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case6416_3
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_cases-case8581_201
Unknown
AGBL4-IT1,AGBL4
fan_18_DD/ID_discovery_cases-subject2
Unknown
Unknown
ZNF859P,AGBL4
han_22_ASD/DD/ID_discovery_cases-case16D0894
Unknown
AGBL4,AGBL4-AS1
krumm_13_ASD_discovery_cases-case11146.p1
Maternal
Simplex
Not segregated
SPATA6
krumm_13_ASD_discovery_cases-case12394.p1
Paternal
Simplex
Segregated
CYP4X1
krumm_13_ASD_discovery_cases-case12396.p1
Maternal
Simplex
Not segregated
CYP4X1
krumm_13_ASD_discovery_cases-case13590.p1
Paternal
Simplex
Segregated
CYP4X1
krumm_13_ASD_discovery_cases-case13809.p1
Maternal
Simplex
Segregated
CYP4X1
krumm_15_ASD_discovery_cases-case13901.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CYP4B1
leppa_16_ASD_discovery_cases-AU1756303
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
CYP4A22,MTND1P34,LINC00853,FOXE3,FOXD2-AS1,FOXD2,RPL21P24,ATP6V0E1P4,CYP4X1,CYP4Z1,CYP4A22-AS1,TAL1,STIL,CMPK1,LINC01389,LINC01738,PDZK1IP1
lintas_17_ASD_discovery_cases-case16.1
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
AGBL4-IT1,AGBL4
lintas_17_ASD_discovery_cases-case16.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Segregated (CNV observed in all both affected siblings)
AGBL4-IT1,AGBL4
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
Unknown
AGBL4-IT1,AGBL4
nava_13_ASD_discovery_cases-Fam1131Proband10787
Paternal
Multiplex
Unknown
AGBL4-IT1,AGBL4
nord_11_ASD_discovery_cases-207-1
Paternal
AGBL4
pinto_10_ASD_discovery_cases-case14080_1360
qPCR-Paternal
paternal
Simplex
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case14239_2920
qPCR-Maternal
maternal
Simplex
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case14244_3680
qPCR-Maternal
maternal
Simplex
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case14246_3700
qPCR-Maternal
maternal
Simplex
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5007_3
Agilent1M
paternal
Multiplex
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5037_3
Agilent1M
paternal
NA
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5042_4
Agilent1M
paternal
NA
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5135_3
Agilent1M
maternal
NA
NA
FAF1
pinto_10_ASD_discovery_cases-case5201_3
Agilent1M
paternal
NA
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5304_3
Agilent1M-Maternal
maternal
NA
NA
AGBL4-IT1,AGBL4
pinto_10_ASD_discovery_cases-case5431_4
Agilent1M
maternal
NA
NA
AGBL4-IT1,AGBL4
poultney_13_ASD_discovery_cases-case00HI1274A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
STIL
prasad_12_ASD_discovery_cases-case128963
Unknown
Unknown
Unknown
AGBL4
prasad_12_ASD_discovery_cases-case83553L
Unknown
Unknown
Unknown
AGBL4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-029
Not tested by qPCR
Unknown
Unknown
Unknown
AGBL4
sanders_11_ASD_discovery_cases-11027.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11090.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11097.p1
Maternal
Simplex (trio)
NA
CYP4X1
sanders_11_ASD_discovery_cases-11146.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA6
sanders_11_ASD_discovery_cases-11167.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11276.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
FOXE3
sanders_11_ASD_discovery_cases-11282.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11298.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11372.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11422.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11433.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11439.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11446.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11452.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-11453.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11456.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11470.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYP4X1
sanders_11_ASD_discovery_cases-11472.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11480.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11491.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11521.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11571.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11573.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11592.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11610.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11620.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11625.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11642.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11665.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11673.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11677.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11694.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11711.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11740.p1
Both parents
Simplex (quad-proband matched)
Segregated
FOXE3
sanders_11_ASD_discovery_cases-11922.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11924.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4
sanders_11_ASD_discovery_cases-11928.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11935.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-11986.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12007.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12019.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
FOXE3
sanders_11_ASD_discovery_cases-12025.p1
Maternal
Simplex (trio)
NA
FOXE3
sanders_11_ASD_discovery_cases-12032.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12060.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12091.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12121.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12149.p1
Both parents
Simplex (trio)
NA
FOXE3
sanders_11_ASD_discovery_cases-12154.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FOXE3
sanders_11_ASD_discovery_cases-12173.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYP4X1
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-12313.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF859P,AGBL4
sanders_11_ASD_discovery_cases-12396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYP4X1
sanders_11_ASD_discovery_cases-12407.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYP4X1
sanders_11_ASD_discovery_cases-12407.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-12417.p1
Paternal
Simplex (trio)
NA
CYP4X1
sanders_11_ASD_discovery_cases-12481.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_cases-12558.p1
Both parents
Simplex (trio)
NA
FOXE3
sanders_11_ASD_discovery_cases-12602.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CYP4X1
sanders_11_ASD_discovery_cases-12637.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CYP4A43P,CYP4A27P
sanders_11_ASD_discovery_cases-12676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGBL4
sanders_11_ASD_discovery_cases-12710.p1
Both parents
Simplex (trio)
NA
FOXE3
sanders_11_ASD_discovery_cases-12740.p1
Maternal
Simplex (trio)
NA
FOXE3
sanders_11_ASD_discovery_cases-12744.p1
Maternal
Simplex (trio)
NA
AGBL4
sanders_11_ASD_discovery_cases-12867.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CYP4Z2P,CYP4A11
sanders_11_ASD_discovery_cases-13183.p1
Both parents
Simplex (quad-proband matched)
Not segregated
FOXE3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017648_
Unknown
AGBL4
engchuan_15_ASD_discovery_controls-control110036018950_
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-control110036019495_
Unknown
ZNF859P,AGBL4
engchuan_15_ASD_discovery_controls-control110036021954_
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-control110036023000_
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB123947_1007876030
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB297614_1007874903
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB328508_1007873324
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB354740_0067942586
Unknown
PPP1R8P1,SPATA6,SLC5A9
engchuan_15_ASD_discovery_controls-controlB410585_1007840274
Unknown
LINC01738,TRABD2B
engchuan_15_ASD_discovery_controls-controlB495422_1007852884
Unknown
RNU6-1026P,PHBP12,MRPS6P2,FAF1
engchuan_15_ASD_discovery_controls-controlB637625_1007875341
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
RNU6-1026P,FAF1
engchuan_15_ASD_discovery_controls-controlB984152_1007842480
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900408_900408
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900518_900518
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900589_900589
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902482_902482
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902672_902672
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902794_902794
Unknown
SPATA6
engchuan_15_ASD_discovery_controls-controlHABC_902798_902798
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902856_902856
Unknown
AGBL4-IT1,AGBL4
engchuan_15_ASD_discovery_controls-controlHABC_902894_902894
Unknown
AGBL4-IT1,AGBL4
krumm_13_ASD_discovery_controls-control11146.s1
Maternal
Simplex
SPATA6
krumm_13_ASD_discovery_controls-control11203.s1
Maternal
Simplex
CYP4X1
krumm_13_ASD_discovery_controls-control12396.s1
Maternal
Simplex
CYP4X1
krumm_13_ASD_discovery_controls-control13447.s1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
SLC5A9
krumm_15_ASD_discovery_controls-control12274.s1
Illumina 1MDuo
Maternal
STIL
krumm_15_ASD_discovery_controls-control13412.s1
1M-Duov3
Maternal
STIL
krumm_15_ASD_discovery_controls-control13528.s1
1M-Duov3
Paternal
CMPK1
levy_11_ASD_discovery_controls-11250.s1
Maternal
Simplex
NA
SPATA6
sanders_11_ASD_discovery_controls-11027.s1
Maternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-11118.s1
Paternal
Simplex (quad)
NA
AGBL4
sanders_11_ASD_discovery_controls-11146.s1
Maternal
Simplex (quad)
NA
SPATA6
sanders_11_ASD_discovery_controls-11203.s1
Maternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
SPATA6
sanders_11_ASD_discovery_controls-11282.s1
Maternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-11321.s1
Unknown
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11372.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11422.s1
Paternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-11439.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11446.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11452.s1
Paternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-11456.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11470.s1
Paternal
Simplex (quad)
NA
UQCRH,NSUN4,FAAH
sanders_11_ASD_discovery_controls-11476.s1
Unknown
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11480.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11571.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11573.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11592.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11620.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11622.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11625.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11638.s1
Paternal
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11673.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11715.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11716.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-11753.s1
Maternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-11924.s1
Paternal
Simplex (quad)
NA
AGBL4
sanders_11_ASD_discovery_controls-11986.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-12007.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-12041.s1
Unknown
Simplex (quad)
NA
ATPAF1
sanders_11_ASD_discovery_controls-12083.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-12154.s1
Both parents
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-12173.s1
Maternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-12407.s1
Maternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-12407.s1
Maternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-12494.s1
Paternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-12619.s1
Paternal
Simplex (quad)
NA
CYP4X1
sanders_11_ASD_discovery_controls-12667.s1
Maternal
Simplex (quad)
NA
AGBL4-IT1,AGBL4
sanders_11_ASD_discovery_controls-12867.s1
Unknown
Simplex (quad)
NA
CYP4Z2P,CYP4A11
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
FOXE3
sanders_11_ASD_discovery_controls-13083.s1
Unknown
Simplex (quad)
NA
FOXD2-AS1,FOXD2
sanders_11_ASD_discovery_controls-13174.s1
Paternal
Simplex (quad)
NA
ZNF859P,AGBL4
No Animal Model Data Available