1p21.1CNV Type: Deletion-Duplication
Largest CNV size: 247322 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
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.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
34980
0
4
4
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
8566
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
584449
5
6
11
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
130000
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
129148
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
176156
2
0
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
759967
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
13732
N/A
N/A
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
228583
1
1
2
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
47767
0
3
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
183597
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
585000
0
1
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
166000
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
5771
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
103526
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
63235
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
584450
0
2
2
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
520443
4
2
6
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
171622
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
79441
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
247322
23
7
30
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
125154
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
75938
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
136623
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
328
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
603984
8
11
19
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
9955627
0
1
1
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
25710
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
1200000
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)
520443
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.
226003
13
4
17
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
75938
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
136623
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
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/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
None
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brand_15_ASD_discovery_cases-case7
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 1 in this case. Duplication previously identified by aCGH as combined with another duplication (chr1:102876392-102929513; hg19)
102405224
102429608
24385
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case7
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 1 in this case. Triplication not previously identified by aCGH.
102426221
102429608
3388
GRCh38
Triplication
No
brand_15_ASD_discovery_cases-case7
N/A
N/A
ASD
Long-insert WGS identified a dupINV-Trip-dup involving chromosome 1 in this case. Duplication previously identified by aCGH as combined with another duplication (chr1:102876392-102929513; hg19)
102429608
102464588
34981
GRCh38
Duplication
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
103612622
103621188
8567
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14188_3120
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102196124
102393290
197167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14310_4270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105278920
105451036
172117
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14310_4270
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105552098
106136547
584450
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case3055_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104778620
104854558
75939
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3072_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3612_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104563876
104622275
58400
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4000_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102196124
102388985
192862
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4377_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102196124
102393290
197167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5311_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5553_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6056_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102184032
102393290
209259
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR74
51 yrs.
F
Intellectual disability and epilepsy
Clinical features: mild-to-moderate intellectual disability, depression. Age of seizure onset: 3 months. Epilepsy syndrome: focal epilepsy. Seizure types: febrile seizures, focal epilepsy, evolution to bilateral or convulsive seizures. Case also has a de novo likely pathogenic SCN1A mutation (p.Arg101Trp).
Mild-to-moderate intellectual disability
103625156
103755245
130090
GRCh38
Deletion
Yes
gai_11_ASD_discovery_cases-AU1099302
Autism
102065155
102194302
129148
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU002804
Autism
102439976
102616131
176156
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU079804
Autism
102439976
102616131
176156
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002157
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102915924
102966355
50432
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004437
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
104826959
105586926
759968
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14355.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
103537341
103551073
13733
GRCh38
N/A
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
103610478
103617093
6616
GRCh38
Deletion
No
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
103563013
103791595
228583
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case10.1
N/A
N/A
PDD-NOS
No additional clinical information available
103564908
103612675
47768
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case10.2
N/A
N/A
PDD-NOS
No additional clinical information available
103564908
103612675
47768
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case15.1
N/A
N/A
PDD-NOS
No additional clinical information available
103564908
103612675
47768
GRCh38
Duplication
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
103581040
103764636
183597
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case73
9 yrs.
M
Dysmorphic features and ocular anomalies
Birth history: born at 35 weeks gestation following a pregnancy marked by steroid therapy. Developmental milestones: no motor or language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: ocular anomalies. Dysmorphic features: short palpebral fissures, micro/anophtalmia. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
103074685
103582372
507688
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1Proband7790
N/A
M
ASD
Additional clinical profile info N/A
ID
103597390
103763694
166305
GRCh38
Duplication
No
pfundt_16_nonNDD_discovery_cases-case128
N/A
N/A
Non-NDD
Disease cohort: blindness. Description: COL11A1 duplication
103002746
103008517
5772
GRCh38
Duplication
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
103564908
103668434
103527
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5311_3
NA
F
ASD
NA
NA
105483286
105546520
63235
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case14310_4270
N/A
M
ASD
Autism (meets criteria for autism on ADI-R and ADOS), language delay, no functional language, no epilepsy. Family history: N/A.
Borderline impaired (Griffiths: language DQ 43, performance DQ 78, global DQ 70)
105278920
105444583
165664
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case14310_4270
N/A
M
ASD
Autism (meets criteria for autism on ADI-R and ADOS), language delay, no functional language, no epilepsy. Family history: N/A.
Borderline impaired (Griffiths: language DQ 43, performance DQ 78, global DQ 70)
105552098
106136547
584450
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100558L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
102092940
102098971
6032
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case110955L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
105890174
105931212
41039
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115731L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
105963339
106483781
520443
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case121091
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
105838775
106062621
223847
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case153115L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
105890174
105931212
41039
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
103469869
103555080
85212
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case26627
NA
NA
ASD
NA
NA
105867838
106039460
171622
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1270-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
101937189
102008003
70815
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1483-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
101928563
102008003
79441
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
102410836
102463957
53122
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
102604956
102614631
9676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
105557626
105636933
79308
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
105483286
105546520
63235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
101883630
101978136
94507
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
105483286
105546520
63235
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11550.p1
8.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 99
105489782
105737104
247323
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
102518094
102548087
29994
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
105841532
105862418
20887
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11839.p1
4
M
ASD
NA
Full-scale IQ, 100; non-verbal IQ, 101; verbal IQ, 99
103962609
103966390
3782
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
105236991
105249357
12367
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
102260843
102273961
13119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
106436414
106441501
5088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
102260843
102277794
16952
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
102894649
102897353
2705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
106406133
106413437
7305
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
103973670
103982080
8411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
105491310
105717313
226004
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12359.p1
9.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
106483594
106497311
13718
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
105380687
105401161
20475
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12587.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 98; verbal IQ, 98
105622242
105678611
56370
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
105373815
105407694
33880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12715.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 109
105483286
105543489
60204
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
102894649
102897353
2705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
105606743
105678611
71869
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
102196124
102400087
203964
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
102260843
102273961
13119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13031.p1
5.1
F
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
102873716
102911306
37591
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
102196124
102393290
197167
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
102260843
102273961
13119
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
103625156
103750309
125154
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-3055-004
N/A
M
ASD
N/A
N/A
104778620
104854558
75939
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case27
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
103725588
103862210
136623
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC07112
N/A
M
Control
Control from SSC cohort
105680737
105681065
329
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036024537_
N/A
N/A
Control
No previous psychiatric history
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036025278_
N/A
N/A
Control
No previous psychiatric history
105483286
105548694
65409
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB351918_1007875243
N/A
N/A
Control
No previous psychiatric history
104454562
104498873
44312
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB461757_1007854302
N/A
N/A
Control
No previous psychiatric history
104657248
104700458
43211
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB693210_1007854347
N/A
N/A
Control
No previous psychiatric history
102196124
102388985
192862
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB777823_1007853951
N/A
N/A
Control
No previous psychiatric history
105483286
105548694
65409
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB977307_1007842455
N/A
N/A
Control
No previous psychiatric history
106143561
106212060
68500
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
N/A
N/A
Control
No previous psychiatric history
102196124
102393290
197167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
N/A
N/A
Control
No previous psychiatric history
104467015
104507794
40780
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
N/A
N/A
Control
No previous psychiatric history
105483842
105546520
62679
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
N/A
N/A
Control
No previous psychiatric history
104563876
104622275
58400
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900482_900482
N/A
N/A
Control
No previous psychiatric history
103750309
104354293
603985
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900521_900521
N/A
N/A
Control
No previous psychiatric history
104778620
104843315
64696
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900692_900692
N/A
N/A
Control
No previous psychiatric history
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
N/A
N/A
Control
No previous psychiatric history
102196124
102388985
192862
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
N/A
N/A
Control
No previous psychiatric history
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902652_902652
N/A
N/A
Control
No previous psychiatric history
105483286
105546520
63235
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
N/A
N/A
Control
No previous psychiatric history
104402228
104484775
82548
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
N/A
N/A
Control
No previous psychiatric history
105483286
105546520
63235
GRCh38
Duplication
No
itsara_10_ASD_discovery_controls_2-10871
NA
NA
Asthma
NA
NA
106027423
115983051
9955629
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13096.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13096. SRS score of 39.
103526070
103551780
25711
GRCh38
Duplication
No (not tested)
leppa_16_ASD_discovery_controls-AU1903302
N/A
M
Control
Unaffected sibling
103902378
105763378
1861001
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
105606743
105621576
14834
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
102410836
102463957
53122
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11052.s1
7.9
M
Control (matched sibling)
NA
NA
103973670
103982080
8411
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
105546520
105637573
91054
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
105534745
105564214
29470
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11270.s1
4.2
M
Control (matched sibling)
NA
NA
102260843
102273961
13119
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
105483286
105548694
65409
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
105491310
105717313
226004
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
102196124
102388985
192862
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12257.s1
4.6
M
Control (matched sibling)
NA
NA
105483286
105546520
63235
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
102196124
102393290
197167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
102196124
102393290
197167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12667.s1
19.3
M
Control (matched sibling)
NA
NA
104563876
104632244
68369
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
105373815
105407694
33880
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
102196124
102393290
197167
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12837.s1
6.5
F
Control (matched sibling)
NA
NA
102246369
102273961
27593
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
105622242
105678407
56166
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brand_15_ASD_discovery_cases-case7
Maternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case7
Maternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case7
Maternal
Simplex
Unknown
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
AMY2A
engchuan_15_ASD_discovery_cases-case14188_3120
Unknown
engchuan_15_ASD_discovery_cases-case14310_4270
De novo
CDK4P1
engchuan_15_ASD_discovery_cases-case14310_4270
De novo
SEPT2P1,LINC01676,LINC01677
engchuan_15_ASD_discovery_cases-case3055_4
Unknown
engchuan_15_ASD_discovery_cases-case3072_8
Unknown
engchuan_15_ASD_discovery_cases-case3612_3
Unknown
engchuan_15_ASD_discovery_cases-case4000_1
Unknown
engchuan_15_ASD_discovery_cases-case4377_1
Unknown
engchuan_15_ASD_discovery_cases-case5311_3
Unknown
engchuan_15_ASD_discovery_cases-case5553_3
Unknown
engchuan_15_ASD_discovery_cases-case6056_4
Unknown
fry_16_DD/ID/EP/ASD_discovery_cases-caseR74
Solid phase hybridization (Illumina)
Unknown
AMY2A,AMYP1,AMY1C,AMY1A,AMY1B
gai_11_ASD_discovery_cases-AU1099302
Inherited
OLFM3
gai_11_ASD_replication_cases-AU002804
Inherited
0 genes
gai_11_ASD_replication_cases-AU079804
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002157
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
COL11A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004437
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CDK4P1
krumm_15_ASD_discovery_cases-case14355.p1
aCGH
De novo
Simplex
Likely segregated
RNPC3
leblond_12_ASD_replication_cases-Pintocase5237_3
Paternal
AMY2A
leblond_12_ASD_replication_cases-Pintocase6319_3
Maternal
ACTG1P4,AMY2A,AMYP1,AMY1C,AMY2B,AMY1A,AMY1B
lintas_17_ASD_discovery_cases-case10.1
Validation by visual inspection, RT-PCR, or PCR
Both parents
Multiplex
Likely not segregated
ACTG1P4,AMY2B
lintas_17_ASD_discovery_cases-case10.2
Validation by visual inspection, RT-PCR, or PCR
Both parents
Multiplex
Likely not segregated
ACTG1P4,AMY2B
lintas_17_ASD_discovery_cases-case15.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/3 affected siblings)
ACTG1P4,AMY2B
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
AMY2A,AMYP1,AMY1C,AMY1A,AMY1B
maini_18_ASD/DD/ID_discovery_cases-case73
Maternal
Simplex
Unknown
SOD2P1,RN7SKP285,ACTG1P4,AMY2B,COL11A1,RNPC3
nava_13_ASD_discovery_cases-Fam1Proband7790
Unknown
Simplex
Unknown
AMY2A,AMYP1,AMY1C,AMY1A,AMY1B
pfundt_16_nonNDD_discovery_cases-case128
MLPA or MAQ
COL11A1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Maternal
Multi-generational
Unknown
ACTG1P4,AMY2A,AMY2B,AMY1A
pinto_10_ASD_discovery_cases-case5311_3
Agilent1M
maternal
NA
NA
pinto_14_ASD_discovery_cases2-case14310_4270
qPCR
De novo
Simplex
Possibly segregated (not tested)
CDK4P1
pinto_14_ASD_discovery_cases2-case14310_4270
qPCR
De novo
Simplex
Possibly segregated (not tested)
SEPT2P1,LINC01676,LINC01677
prasad_12_ASD_discovery_cases-case100558L
Unknown
Unknown
Unknown
OLFM3
prasad_12_ASD_discovery_cases-case110955L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case115731L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case121091
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case153115L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
0 genes
rosenfeld_10_ASD_discovery_cases-case26627
FISH
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1270-0
qPCR
Paternal
Unknown
Unknown
OLFM3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1483-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
OLFM3
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11045.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC01676
sanders_11_ASD_discovery_cases-11246.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11356.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DNAJA1P5,OLFM3
sanders_11_ASD_discovery_cases-11421.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11550.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SEPT2P1,LINC01676
sanders_11_ASD_discovery_cases-11680.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11734.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11839.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11846.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11914.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11946.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12056.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12120.p1
Unknown
Simplex (quad-proband matched)
Not segregated
COL11A1
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SEPT2P1,LINC01676
sanders_11_ASD_discovery_cases-12359.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12481.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12587.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12691.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12715.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12785.p1
Unknown
Simplex (quad-proband matched)
Not segregated
COL11A1
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01676
sanders_11_ASD_discovery_cases-12796.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13031.p1
Unknown
Simplex (trio)
NA
COL11A1
sanders_11_ASD_discovery_cases-13053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13322.p1
Unknown
Simplex (quad-proband matched)
Not segregated
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
AMY2A,AMYP1,AMY1A,AMY1B
walker_13_ASD_discovery_cases-case8-3055-004
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case27
Unknown
Unknown
Unknown
AMY1C
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07112
PCR
De novo
engchuan_15_ASD_discovery_controls-control110036024537_
Unknown
engchuan_15_ASD_discovery_controls-control110036025278_
Unknown
engchuan_15_ASD_discovery_controls-controlB351918_1007875243
Unknown
engchuan_15_ASD_discovery_controls-controlB461757_1007854302
Unknown
engchuan_15_ASD_discovery_controls-controlB693210_1007854347
Unknown
engchuan_15_ASD_discovery_controls-controlB777823_1007853951
Unknown
engchuan_15_ASD_discovery_controls-controlB977307_1007842455
Unknown
engchuan_15_ASD_discovery_controls-controlB999735_1007854262
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900291_900291
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900482_900482
Unknown
AMY1C,FTLP17
engchuan_15_ASD_discovery_controls-controlHABC_900521_900521
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900692_900692
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902559_902559
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902652_902652
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902679_902679
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
Unknown
itsara_10_ASD_discovery_controls_2-10871
aCGH (custom NimbleGen 12 X 135)
De novo
MTATP6P14,MTCO1P14,PRMT6,MIR7852,ST13P21,PRPF38B,SPATA42,RANP5,TMEM167B,SCARNA2,C1orf194,ATXN7L2,AMIGO1,RNU6V,MIR197,RPL7P8,NDUFA5P10,UBL4B,LINC02586,LAMTOR5,PROK1,CYMP,CYMP-AS1,KCNA10,NRBF2P3,CCNT2P1,RNA5SP54,CHIAP1,PIFO,HIGD1AP12,PGCP1,UBE2FP3,RNU6-792P,ADORA3,KRT18P57,RNU6-151P,INKA2-AS1,KCND3-IT1,KCND3-AS1,LINC01750,TXNP3,MIR4256,MRPL53P1,RNU7-70P,PPM1J,NUTF2P4,AKR7A2P1,RLIMP2,MTND5P20,DCLRE1B,HIPK1-AS1,MRPL57P1,EIF2S2P5,PKMP1,RN7SL432P,NRAS,RNY1P13,NR1H5P,LINC01765,ELOCP20,CNOT7P2,RN7SL420P,NHLH2,HNRNPA1P43,LINC01649,LINC01677,VAV3-AS1,NBPF4,SLC25A24P1,NBPF6,FAM102B,FNDC7,AKNAD1,CLCC1,WDR47,TAF13,SARS,CELSR2,PSRC1,MYBPHL,PSMA5,SYPL2,CYB561D1,GPR61,GNAT2,AMPD2,GSTM4,GSTM5,GSTM3,EPS8L3,CSF1,AHCYL1,STRIP1,ALX3,SLC6A17,RBM15-AS1,RBM15,SLC16A4,KCNA3,OR11I1P,LRIF1,DRAM2,DENND2D,CHI3L2,CHIA,CHIAP3,OVGP1,WDR77,ATP5PB,C1orf162,LINC01160,INKA2,DDX20,WNT2B,CAPZA1,MOV10,RHOC,LINC01356,SLC16A1,PHTF1,PTPN22,AP4B1-AS1,BCL2L15,HIPK1,SYT6,BCAS2,DENND2C,CSDE1,SIKE1,TSHB,NGF,VANGL1,LINC01661,NTNG1,VAV3,SLC25A24,NBPF5P,SLC25A24P2,HENMT1,STXBP3,GPSM2,KIAA1324,SORT1,GNAI3,GSTM2,GSTM1,LINC01768,KCNC4,LAMTOR5-AS1,KCNA2,CD53,CHIAP2,TMIGD3,RAP1A,KCND3,CTTNBP2NL,ST7L,FAM19A3,SLC16A1-AS1,LRIG2,MAGI3,RSBN1,AP4B1,OLFML3,TRIM33,AMPD1,SYCP1,TSPAN2,CASQ2,SLC22A15,LINC01397,CEPT1,NGF-AS1
krumm_13_ASD_discovery_controls-control13096.s1
Maternal
Simplex
RNPC3
leppa_16_ASD_discovery_controls-AU1903302
Maternal
Multiplex
FTLP17,CDK4P1,SEPT2P1,LINC01676
sanders_11_ASD_discovery_controls-11010.s1
Both parents
Simplex (quad)
NA
LINC01676
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11052.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Paternal
Simplex (quad)
NA
LINC01676
sanders_11_ASD_discovery_controls-11198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11270.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11396.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11550.s1
Paternal
Simplex (quad)
NA
SEPT2P1,LINC01676
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12257.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12536.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12667.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12691.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12796.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12837.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available