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15q14CNV Type: Deletion-Duplication


Largest CNV size: 279166 bp

Statistics Box:
Number of Reports: 22



Summary Information

Summary statement in development

Additional Locus Information

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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
 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
 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
 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
 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
  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
  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
 
 celestino-soper_11_ASD_discovery_cases-11156
 
 
 Unknown
 Simplex
 NA
 RYR3
 
 celestino-soper_11_ASD_discovery_cases-11303
 
 
 Unknown
 Simplex
 NA
 MIR3942,HNRNPA1P45,DPH6
 
 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
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