15q14CNV Type: Deletion-Duplication
Largest CNV size: 279166 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Deletion
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
74699
2
0
2
carvalho_22_DD/ID_discovery_cases
Individuals presenting with syndomic obesity, 15 of whom without previous CNV analysis, evaluated at the University of Sao Paulo (Sao Paulo, Brazil).
20
In addition to syndromic obesity, most cases presented with developmental delay/intellectual disability (DD/ID).
Range, 1.35-22.64 yrs. (mean, 9.9 5.3 SD)
80% Male
1597202
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
166744
0
2
2
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
41817
0
1
1
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
118356
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
678526
4
8
12
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
108000
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
372441
0
2
2
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
344535
1
0
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1277037
0
1
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
336200
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
4739611
2
0
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
17810
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
915347
1
3
4
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
165675
1
0
1
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
269037
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
201000
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
147083
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
18746
1
0
1
reis_17_ASD/ID_discovery_cases
Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
2
The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
Range, 29-33 yrs.
50% Male
71004
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
279166
17
3
20
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
152000
1
0
1
shimojima_17_ASD/DD_discovery_cases
9-year-old male patient presenting with a de novo 15q14 microdeletion involving the MEIS2 gene
1
Case presented with ASD (diagnostic tools N/A) and mild developmental delay (evaluated by Kyoto Scale of Psychological Development)
9 years
Male
3170000
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
298080
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
6983
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
366093
5
4
9
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
251844
1
0
1
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
18277
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1050884
0
1
1
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)
43442
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)
18746
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.
32321
13
0
13
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
carvalho_22_DD/ID_discovery_cases
Brazil
NGS
Illumina HiSeq
NA
BioDiscovery Nexus Copy Number v.9
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_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
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
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
reis_17_ASD/ID_discovery_cases
Brazil
aCGH
Agilent 180K
ADM-2
Agilent Feature Extraction 10.7.3.1
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
shimojima_17_ASD/DD_discovery_cases
Japan
Targeted exome sequencing
Illumina TruSight One Sequencing panel
eXome Hidden Markov Model
aCGH
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
alayadhi_16_ASD_discovery_cases-caseAUT3-1
N/A
M
Autism
CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
34443863
34518561
74699
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT3-2
N/A
M
Autism
CARS score of 35.0; Social Responsiveness Scale (SRS) score of 78; Sensory profile score of 134.
34443863
34518561
74699
GRCh38
Deletion
Yes
carvalho_22_DD/ID_discovery_cases-case3
13 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: pregnancy complicated by reduced fetal movements; delivery with forceps; birth weight 3.8 kg, OFC 51 cm; did not cry at birth; cyanosis at birth; neonatal hypotonia with difficulty sucking. Developmental milestones: motor delay with delayed ability to walk (> 4 years). Language and communication evaluation: speech impairment. Motor and musculoskeletal evaluation: bilateral 5th finger clinodactyly; difficulty walking. Behavioral/psychiatric evaluation: repeated episodes of hand-washing; aggressive behavior before administration of psychiatric drugs; does not make friends at school; sleep disturbance. Additional medical history: gastroesophageal reflux and very rapid weight loss at 2 years; urinary incontinence; recurrent infections (pneumonia, sinusitis); heart murmurs; myopia; nasal voice. Dysmorphic features: turricephaly, bilateral cleft palate, absent uvula, big ears, auricular appendages (surgically removed), everted upper lip, inverted and spread nipples, cafe-au-lait spots. Growth parameters: obesity (BMI Z-score 2.61), macrocephaly (OFC +3.77 SD). Family history: born to non-consanguineous parents with a healthy 18-year-old sister.
Moderate intellectual disability
36422444
38019645
1597202
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11156
NA
M
ASD
NA
NA
33864032
33864142
111
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
35371538
35538282
166745
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case131
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
36891922
36933738
41817
GRCh38
Duplication
No
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
34402116
34520472
118357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14117_2090
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35937064
36615590
678527
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16055_1571004001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
36156754
36393517
236764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18100_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38524632
38946662
422031
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2296_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38904404
39093720
189317
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3199_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38904404
39093720
189317
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3316_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34373948
34740655
366708
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4183_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35394066
35430292
36227
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4308_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35394066
35425212
31147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4382_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38904404
39093720
189317
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4553_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39358867
39804289
445423
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6327_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38903889
39093490
189602
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8424_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35013417
35054340
40924
GRCh38
Deletion
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
21 yrs.
M
Intellectual disability and epilepsy
Clinical features: mild intellectual disability, thin habitus, depression. Age of seizure onset: 18 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, generalized tonic-clonic seizures.
Mild intellectual disability
34408096
34515668
107573
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1031301
Autism
32505886
32820148
314263
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1031303
Autism
32447708
32820148
372441
Unknown
Duplication
No
girirajan_13b_ASD_discovery_cases-33906106436
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
34423582
34768117
344536
GRCh38
Deletion
No
guo_17_ASD_discovery_cases-caseM11403
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
33941614
35218650
1277037
GRCh38
Duplication
Yes
kalsner_17_ASD_discovery_cases-case13
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
39464973
39801176
336204
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000886
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
34995451
39735062
4739612
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005268
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
34588015
39280404
4692390
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3081
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
34742839
34760648
17810
Unknown
Deletion
No
krumm_15_ASD_discovery_cases-case11841.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
39763817
39771264
7448
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12742.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
34856791
34934635
77845
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14454.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34003031
34918378
915348
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14481.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34341967
34365228
23262
GRCh38
Duplication
Yes
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.
34380017
34545691
165675
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
9 yrs.
M
ASD
Diagnosis of ASD at 6 years of age by child psychologist (assessment tools N/A). Birth/neonatal history: born vaginally at 35 weeks gestation; treated for respiratory distress in hospital for nine days following delivery; coarctation of aorta and bicuspid aortic valve noted on echocardiography at 18 days of life (end-to-end anastomosis procedure at 1 month followed by coarctation repair with patch annulopasty at four months, post-treatment echocardiograms normal). Developmental milestones: mild global developmental delay (walking at 16 months, speech emergence at 15-16 months); speaking in two-word sentences by age of three years. Behavioral/psychiatric evaluation: difficulties with socialization and repetitive behaviors (throat clearing and tics). Dysmorphic features: none reported. Family history: case is third of four children of non-consanguineous parents; one sister with anxiety, another sister with speech delay and hyperactivity, and a third sister with head-banging behaviors (none of these siblings carry the paternally-inherited 14q23.3/GPHN deletion); maternal half-brother with bipolar disorder; mother diagnosed with depression and anxiety, noted to have speech difficulties in school; individuals with additional psychological concerns in maternal extended family; father is apparently healthy with normal intelligence but has some challenges with socialization; significant psychiatric illness in paternal extended family.
Academic difficulties requiring modified program in preschool and kindergarten (graduated from program by 9 years of age, received no additional special education).
34402965
34672001
269037
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case10301
NA
ASD
NA
NA
32564000
32765000
201000
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case2236_1
NA
M
Autism
Language delay, no dysmorphic features, mild ligamentous laxity, 4th toe clinodactyly, Mongolian spot around sacral area, slightly hypotonic, normal neurological exam, no epilepsy, recurrent ear infections, reactive airways disease when younger
Normal IQ
32459510
32606592
147083
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case50681L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
37366522
37385267
18746
Unknown
Deletion
No
reis_17_ASD/ID_discovery_cases-case2
29 yrs.
F
Intellectual disability
Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
34443748
34514752
71005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11150.p1
7.6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 67
33615427
33617621
2195
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
36213837
36218943
5107
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
39752072
39766212
14141
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11998.p1
5.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 103; verbal IQ, 111
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
35034927
35051611
16685
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12160.p1
8.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 108; verbal IQ, 86
33983061
33985706
2646
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12170.p1
7.8
F
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77
38001364
38031062
29699
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12212.p1
12.3
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
39065508
39081893
16386
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
37198570
37205743
7174
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
37315833
37383382
67550
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12643.p1
10.6
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
38713534
38773223
59690
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
34799184
35078350
279167
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12754.p1
7.9
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 125; verbal IQ, 115
38903889
39093720
189832
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
37192893
37205743
12851
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-064
NA
M
ASD
NA
NA
33782401
33935190
152790
GRCh38
Deletion
No
shimojima_17_ASD/DD_discovery_cases-case1
9 yrs.
M
ASD and developmental delay
Birth/neonatal history: born at term with birth weight of 2976 g (-0.2 SD), length of 51 cm (+1.0 SD), and OFC of 31 cm (-1.7 SD). Developmental milestones: walking at 20 months; delayed language development. Language and communication evaluation: speech has a nasal sound caused by submucosal cleft; echolalia frequently observed. Behavioral/psychiatric evaluation: case exhibits behavior such as tantrums, irritability, and self-injurious behaviors when unable to perform tasks according to his expectations; does not have many friends at school, whihch might be due to impaired communication skills. Additional medical history: ventricular septal defect that spontaneously closed; recurrent otitis media with effusion. Dysmorphic features: submucosal cleft. Growth parameters: height of 126.4 cm (-0.6 SD), weight of 22.6 kg (-1.0 SD), and OFC of 53.5 cm (+0.7 SD).
IQ evaluation by Kyoto Scale of Psychological Development showed no abnormality in motor development but a language development score of 63, indicating mild developmental delay.
33813732
36977811
3164080
GRCh38
Deletion
Yes
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
34394752
34692831
298080
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-controlSSC09800
N/A
F
Control
Control from SSC cohort
35373197
35380180
6984
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB559151_1007854720
N/A
N/A
Control
No previous psychiatric history
38896220
38928819
32600
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB867787_1007854142
N/A
N/A
Control
No previous psychiatric history
35379217
35430292
51076
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900568_900568
N/A
N/A
Control
No previous psychiatric history
35723570
36020747
297178
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
N/A
N/A
Control
No previous psychiatric history
34579095
34640029
60935
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
N/A
N/A
Control
No previous psychiatric history
34374562
34740655
366094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902475_902475
N/A
N/A
Control
No previous psychiatric history
38322324
38355494
33171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
N/A
N/A
Control
No previous psychiatric history
38713597
38760621
47025
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902861_902861
N/A
N/A
Control
No previous psychiatric history
35394066
35425212
31147
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
N/A
N/A
Control
No previous psychiatric history
34375146
34733295
358150
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1904
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
34718594
34970437
251844
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13890.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13890. SRS score of 47.
36691684
36709961
18278
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control14454.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33867494
34918378
1050885
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C36728A
N/A
F
Control
NIMH Control (NIMH ID 72366)
39763819
39807260
43442
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11159.s1
11.3
F
Control (matched sibling)
NA
NA
38989767
38996400
6634
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
38008614
38031062
22449
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
35394066
35425212
31147
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
33983061
33987118
4058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
33983061
33985706
2646
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12100.s1
13.8
F
Control (matched sibling)
NA
NA
35034927
35051611
16685
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
38008614
38031062
22449
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
38834739
38849782
15044
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12646.s1
16.5
M
Control (matched sibling)
NA
NA
33615427
33617621
2195
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12648.s1
11.3
F
Control (matched sibling)
NA
NA
37192893
37205743
12851
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12785.s1
16.8
F
Control (matched sibling)
NA
NA
37246646
37255134
8489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12923.s1
5.8
M
Control (matched sibling)
NA
NA
37192893
37225214
32322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
37192893
37205743
12851
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT3-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
HNRNPLP2,FSCN1P1
alayadhi_16_ASD_discovery_cases-caseAUT3-2
qPCR
De novo (CNV not observed in either parent)
Multiplex
HNRNPLP2,FSCN1P1
carvalho_22_DD/ID_discovery_cases-case3
De novo
Simplex
Segregated
CDIN1,TMCO5A,CSNK1A1P1,LARP4P,MEIS2,COX6CP4,TPST2P1,LINC02345,MIR8063
celestino-soper_11_ASD_discovery_cases-11156
Unknown
Simplex
NA
RYR3
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
MIR3942,HNRNPA1P45,DPH6
cucinotta_23_ASD_discovery_cases-case131
De novo
MEIS2
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
HNRNPLP2,FSCN1P1,GOLGA8A
engchuan_15_ASD_discovery_cases-case14117_2090
Unknown
COX6CP4,C15orf41
engchuan_15_ASD_discovery_cases-case16055_1571004001
Unknown
engchuan_15_ASD_discovery_cases-case18100_302
Unknown
RASGRP1,C15orf53
engchuan_15_ASD_discovery_cases-case2296_1
Unknown
C15orf53
engchuan_15_ASD_discovery_cases-case3199_3
Unknown
C15orf53
engchuan_15_ASD_discovery_cases-case3316_3
Unknown
MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252
engchuan_15_ASD_discovery_cases-case4183_1
Unknown
HNRNPA1P45,DPH6
engchuan_15_ASD_discovery_cases-case4308_1
Unknown
HNRNPA1P45,DPH6
engchuan_15_ASD_discovery_cases-case4382_1
Unknown
C15orf53
engchuan_15_ASD_discovery_cases-case4553_1
Unknown
THBS1,FSIP1,GPR176
engchuan_15_ASD_discovery_cases-case6327_4
Unknown
C15orf53
engchuan_15_ASD_discovery_cases-case8424_201
Unknown
fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
Unknown
HNRNPLP2,FSCN1P1,GOLGA8A
gai_11_ASD_discovery_cases-AU1031301
Inherited
GOLGA8A, GOLGA8B
gai_11_ASD_discovery_cases-AU1031303
Inherited
GOLGA8A, GOLGA8B
girirajan_13b_ASD_discovery_cases-33906106436
Unknown
Unknown
Unknown
HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,GOLGA8A,GOLGA8B,LINC02252
guo_17_ASD_discovery_cases-caseM11403
qPCR
Maternal
PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,AVEN,KATNBL1,AQR,DPH6
kalsner_17_ASD_discovery_cases-case13
Unknown
Unknown
Unknown
THBS1,FSIP1,GPR176
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000886
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,LINC01852,C15orf54,ANP32AP1,LARP4P,CSNK1A1P1,TMCO5A,FAM98B,DPH6,MEIS2,LINC02345,SPRED1,RASGRP1,THBS1,FSIP1,DPH6-DT,C15orf41,C15orf53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005268
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,LINC01852,C15orf54,GOLGA8B,LINC02252,ZNF770,ANP32AP1,LARP4P,CSNK1A1P1,TMCO5A,FAM98B,AQR,DPH6,MEIS2,LINC02345,SPRED1,RASGRP1,DPH6-DT,C15orf41,C15orf53
kanduri_15_ASD_discovery_cases-case3081
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, GOLGA8A(dist=60838),GOLGA8B(dist=56836)
krumm_15_ASD_discovery_cases-case11841.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FSIP1
krumm_15_ASD_discovery_cases-case12742.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
AQR
krumm_15_ASD_discovery_cases-case14454.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,AVEN,KATNBL1,AQR
krumm_15_ASD_discovery_cases-case14481.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
NOP10,LPCAT4,NUTM1
leblond_12_ASD_replication_cases-Pintocase6319_3
Maternal
MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GOLGA8A,GOLGA8B
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
Unknown
Simplex
Unknown
HNRNPLP2,FSCN1P1,MIR1233-2,GOLGA8A,GOLGA8B,LINC02252
morrow_08_ASD_discovery_cases-case10301
Maternal
NA
NA
GOLGGA8A
pinto_10_ASD_discovery_cases-case2236_1
qPCR, Affy 6.0
maternal
NA
NA
GOLGA8A exonic
prasad_12_ASD_discovery_cases-case50681L
Unknown
Unknown
Unknown
0 genes
reis_17_ASD/ID_discovery_cases-case2
De novo
Multiplex
Not segregated
HNRNPLP2,FSCN1P1
sanders_11_ASD_discovery_cases-11150.p1
Paternal
Simplex (quad-proband matched)
Segregated
RYR3
sanders_11_ASD_discovery_cases-11625.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11704.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11841.p1
Maternal
Simplex (trio)
NA
FSIP1
sanders_11_ASD_discovery_cases-11998.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12160.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CHRM5,AVEN
sanders_11_ASD_discovery_cases-12170.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02345
sanders_11_ASD_discovery_cases-12212.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C15orf53
sanders_11_ASD_discovery_cases-12392.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12619.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12634.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12643.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12670.p1
Paternal
Simplex (trio)
NA
C15orf53
sanders_11_ASD_discovery_cases-12736.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
ZNF770,AQR
sanders_11_ASD_discovery_cases-12754.p1
Paternal
Simplex (trio)
NA
C15orf53
sanders_11_ASD_discovery_cases-12817.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12923.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13327.p1
Unknown
Simplex (quad-proband matched)
Not segregated
shen_10_ASD_discovery_cases-ASD-09-064
Unknown
NA
NA
AVEN,RYR3
shimojima_17_ASD/DD_discovery_cases-case1
aCGH (Agilent 60K)
De novo
PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,NANOGP8,PRELID1P4,NUTF2P6,RBM17P4,MIR3942,HNRNPA1P45,MIR4510,COX6CP4,TPST2P1,MIR8063,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,ZNF770,ANP32AP1,LARP4P,CSNK1A1P1,AVEN,KATNBL1,AQR,DPH6,MEIS2,DPH6-DT,C15orf41,RYR3
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
HNRNPLP2,FSCN1P1,MIR1233-2,GOLGA8A,GOLGA8B,LINC02252
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC09800
SNP VCF
De novo
DPH6
engchuan_15_ASD_discovery_controls-controlB559151_1007854720
Unknown
C15orf53
engchuan_15_ASD_discovery_controls-controlB867787_1007854142
Unknown
HNRNPA1P45,DPH6
engchuan_15_ASD_discovery_controls-controlHABC_900568_900568
Unknown
MIR4510,DPH6-DT
engchuan_15_ASD_discovery_controls-controlHABC_901224_901224
Unknown
GOLGA8B
engchuan_15_ASD_discovery_controls-controlHABC_901225_901225
Unknown
MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252
engchuan_15_ASD_discovery_controls-controlHABC_902475_902475
Unknown
SPRED1
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
Unknown
C15orf53
engchuan_15_ASD_discovery_controls-controlHABC_902861_902861
Unknown
HNRNPA1P45,DPH6
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
Unknown
MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GOLGA8A,GOLGA8B,LINC02252
kanduri_15_ASD_discovery_controls-control_split1904
Unknown
GOLGA8B
krumm_13_ASD_discovery_controls-control13890.s1
Paternal
Simplex
C15orf41
krumm_15_ASD_discovery_controls-control14454.s1
Omni2.5-4v1
Paternal
PGBD4,NOP10,LPCAT4,MIR1233-1,HNRNPLP2,FSCN1P1,MIR1233-2,GJD2,ACTC1,CHRM5,EMC7,EMC4,SLC12A6,NUTM1,ACTG1P15,GOLGA8A,GOLGA8B,LINC02252,AVEN,KATNBL1,AQR
poultney_13_ASD_discovery_controls-control04C36728A
Unknown
FSIP1,GPR176
sanders_11_ASD_discovery_controls-11159.s1
Maternal
Simplex (quad)
NA
C15orf53
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
LINC02345
sanders_11_ASD_discovery_controls-11845.s1
Maternal
Simplex (quad)
NA
HNRNPA1P45,DPH6
sanders_11_ASD_discovery_controls-11990.s1
Paternal
Simplex (quad)
NA
CHRM5,AVEN
sanders_11_ASD_discovery_controls-12057.s1
Paternal
Simplex (quad)
NA
CHRM5,AVEN
sanders_11_ASD_discovery_controls-12100.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12170.s1
Maternal
Simplex (quad)
NA
LINC02345
sanders_11_ASD_discovery_controls-12303.s1
Maternal
Simplex (quad)
NA
C15orf53
sanders_11_ASD_discovery_controls-12646.s1
Maternal
Simplex (quad)
NA
RYR3
sanders_11_ASD_discovery_controls-12648.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12785.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12923.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available