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3p14.1CNV Type: Deletion-Duplication


Largest CNV size: 1300000 bp

Statistics Box:
Number of Reports: 21



Summary Information

Summary statement in development

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
De novo rates and selection of large copy number variation.
Deletion
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
Deletion
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
NA
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 170000
 1
 0
 1
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 241688
 0
 4
 4
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 1300000
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 649000
 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
 50678
 5
 1
 6
 fan_19_ASD_discovery_cases
  NA NA
 Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
 401
 Cases diagnosed with ASD (DSM-5, ADOS, CARS)
 Range, 1 year 5 months-17 years
 83.54% Male
 3207000
 0
 1
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 1403448
 1
 0
 1
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 276000
 1
 1
 2
 hamdan_10_ASD_discovery_cases
 Individuals with sporadic ASD
 80
 ASD (diagnosed according to DSM-IV criteria and selected based on ADI-R and/or ADOS-G). 27 individuals also have documented ID.
 NA
 NA
 0
 0
 0
 0
 hamdan_10_ID_discovery_cases
 Individuals with sporadic non-syndromic intellectual disability (NSID)
 30
 Non-syndromic intellectual disability (NSID)
 NA
 NA
 390000
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 51247
 1
 0
 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
 1110450
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 45093
 1
 3
 4
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 1400000
 2
 0
 2
 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
 21218
 1
 0
 1
 palumbo_13_ASD_discovery_cases
 Male ASD patient referred to genetic clinic [IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy] for severe psychomotor retardation and speech delay; born to healthy non-consanguineous parents with no family history of learning difficulties, seizures, autism, or mental health problems.
 1
 Diagnosis of autism (DSM-IV criteria)
 20 yrs.
 Male
 1000000
 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
 30137
 1
 0
 1
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 870133
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 223853
 2
 0
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 282221
 5
 3
 8
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 1194600
 3
 0
 3
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 37812
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 1300000
 0
 0
 0
 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
 202524
 9
 2
 11
 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
 7325
 2
 2
 4
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 17923
 0
 2
 2
 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)
 30137
 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.
 
 169822
 5
 4
 9

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fan_19_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 ChAS
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 hamdan_10_ASD_discovery_cases
  Predominantly French Canadian
 Array SNP
  Affymetrix 5.0
 N/A
 N/A
 None
 hamdan_10_ID_discovery_cases
  Predominantly French Canadian
 Array SNP
  Affymetrix 6.0
 N/A
 N/A
 MLPA
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 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
 palumbo_13_ASD_discovery_cases
  Caucasian
 Array SNP
  Affymetrix 6.0
 
 Genotyping Console Software 4.0
 Array SNP (Affymetrix CytoScan HD array)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  asadollahi_14_NDD_discovery_cases-case55113
 18 yrs.
 M
 ADHD
 ADHD, microcephaly, short stature, myopia
 
 67459519
 67629133
  169615
 GRCh38
 Deletion
 Yes
  brand_15_ASD_discovery_cases-case6
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Triplication not previously identified by aCGH.
 
 65161121
 65171554
  10434
 GRCh38
 Triplication
 No
  brand_15_ASD_discovery_cases-case6
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Duplication previously observed by aCGH as combined with another duplication (chr3:65121760-65398898; hg19).
 
 65171825
 65413513
  241689
 GRCh38
 Duplication
 No
  brand_15_ASD_discovery_cases-case6
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINV-Trip-dup involving chromosome 3 in this case. Duplication previously observed by aCGH as combined with another duplication (chr3:65121760-65398898; hg19).
 
 65133822
 65171825
  38004
 GRCh38
 Duplication
 No
  christian_08_ASD_discovery_cases-AU003404
 NA
 F
 ASD
 NA
 NA
 67606406
 68908055
  1301650
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 68856598
 69505554
  648957
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13118_1353
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65190441
 65229010
  38570
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14188_3120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65199224
 65230129
  30906
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3218_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65199224
 65230129
  30906
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3492_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65704972
 65755650
  50679
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4233_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 69990630
 70030611
  39982
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5364_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 65199224
 65230129
  30906
 GRCh38
 Deletion
 No
  fan_19_ASD_discovery_cases-caseASD343
  NA NA
 3 yrs. 10 mos.
 M
 ASD
 CARS score 42.5 (severe severity)
 
 66080734
 69224039
  3143306
 GRCh38
 Duplication
 No
  gai_11_ASD_replication_cases-AU003404
 
 
 Autism
 
 
 67702162
 69105609
  1403448
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-11464.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 65129285
 65409285
  280001
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-AU1718301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 71077398
 71318225
  240828
 GRCh38
 Deletion
 No
  hamdan_10_ID_discovery_cases-patientA
 15 yrs. 11 mos.
 F
 Intellectual disability + autistic features
 Patient displayed autistic features in reciprocal social interaction (social avoidance with peers, decreased inhibition with adults) and restricted interests and repetitive behaviors (delayed echolalia and stereotyped language, self-injurious behavior, perceptual fixations), but due to subthreshold scores in the communication area, no diagnosis of autism was given (assessment made using ADI-R and ADOS-G at 6 years 8 months). Birth/neonatal history: uneventful pregnancy and delivery. Developmental milestones: development characterized by global delay with severe language impairment (not clearly pronouncing words until 3 years, started to associate words at 4 years); started to walk between 18-20 months. Pre-school Language Scale: age equivalences for auditory comprehension, expressive communication, and total language score not determined. Clinical Evaluation of Language Fundamentals, expressive language subtests: morphology and recalling sentences, age equivalence of <4 yrs.; expressive vocabulary, age equivalence of <4 yrs. 5 mos. Clinical Evaluation of Language Fundamentals, receptive language subtests: concepts and following directions, age equivalence of 4 yrs. 3 mos.; basic concepts, age equivalence of <4 yrs.; sentence structure, age equivalence of < 4yrs. Vineland Adaptive Behavior Scales: communication, 1st %ile; daily living, 2nd %ile; socialization, <1st %ile; adaptive behavior composite, 1st %ile; clinically significant findings for internalizing & externalizing behavioral abnormalities, as well as for maladaptive behavior index. Aberrant Behavior Checklist: irritability subscale, 26 (+2.3 SD); lethary subscale, 19 (+1.7 SD); stereotypy subscale, 7 (+1.6 SD); hyperactivity subscale, 24 (+1.6 SD); inappropriate speech subscale, 6 (+1.6 SD). Repetitive Behavior Scale-Revised: stereotyped behavior, score of 3; self-injurious behavior, score of 1; compulsive behavior, socre of 3; ritualistic behavior, score of 6; sameness behavior, score of 6; restricted behavior, score of 4. Family history: born to non-consanguineous French Canadian parents.
 Intellectual disability (ID). Leiter International Performance Scale-R BRIEF IQ store of 58 (0.3 %ile).
 70983034
 71372799
  389766
 GRCh38
 Deletion
 Yes
  itsara_10_ASD_discovery_cases-HI4074
 NA
 NA
 Autism
 NA
 NA
 65713730
 65764977
  51248
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 70418081
 71438421
  1020341
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001679
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 65790274
 66728325
  938052
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11464.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 65356377
 65401470
  45094
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12025.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 66362844
 66370617
  7774
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12101.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 69023176
 69035115
  11940
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13864.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 69104463
 69122386
  17924
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU003404
 N/A
 F
 ASD
 
 
 67568576
 68976849
  1408274
 GRCh38
 Deletion
 No
  leppa_16_ASD_discovery_cases-AU003406
 N/A
 M
 ASD
 
 
 67568576
 68976849
  1408274
 GRCh38
 Deletion
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 65203560
 65224777
  21218
 GRCh38
 Deletion
 No
  palumbo_13_ASD_discovery_cases-case1
 20 yrs.
 M
 Autism
 Diagnosis of autism according to DSM-IV criteria. Developmental milestones: psychomotor developmental delay, particular concerning language, detected as a child; walking after 24 months of age. Language and communication evaluation: severe speech delay; qualitive alterations in communication with absence of verbal language that is not compensated by gestures or facial expressions. Motor and musculoskeletal evaluation: deficits of motor coordination. Behavioral/psychiatric evaluation: strong emotional and affective liability, self-injurious and aggressive behavior, hyperactivity, attention-deficit disorder, dyspraxia, pica; qualititative alterations of social interactions, inability to form peer relationships, lack of spontaneous seeking of sharing, social or emotional reciprocity; stereotyped/repetitive-restricted behaviors, interests, and activities. EEG: unspecified anomlies. Brain imaging: normal brain MRI. Dysmorphic features: hypotonic and long face, broad and prominent forehead, palpebral ptosis, down-slanting palpebral fissures, open mouth, thick lips, abnormal tooth position, malocclusion, open bite, pointed chin. Growth parameters: height, weight, and head circumference within normal range. Family history: first of two children of healthy non-consanguineous Caucasian parents; younger sister has no learning or behavioral problems; no family history of learning difficulties, seizures, autism, or mental health problems.
 Intellectual disability (formal testing NA); assessment of adaptive behavior revealed significant impairment in motor skills, skills of daily living, socialization and communication skills.
 70380155
 71388526
  1008372
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case107433
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 63735794
 63765930
  30137
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_230
 10 yrs.
 M
 ASD and intellectual disability
 ASD, hyperactivity, dysmorphic facial features
 
 65517096
 66322479
  805384
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 69352097
 69517760
  165664
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 69133853
 69357705
  223853
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11464.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
 65131002
 65413223
  282222
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11549.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
 65243923
 65248470
  4548
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11700.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
 65745126
 65748166
  3041
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12063.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
 68851671
 68873498
  21828
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12101.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 38
 69015640
 69033722
  18083
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12228.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 117; verbal IQ, 90
 67198309
 67204462
  6154
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12582.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 73; verbal IQ, 45
 65575896
 65596462
  20567
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13013.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
 69867486
 69898650
  31165
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR007-B2-8159-101
 NA
 
 ASD
 NA
 NA
 67640186
 68836059
  1195874
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR007-B4-AU32503
 NA
 
 ASD
 NA
 NA
 67640186
 68836059
  1195874
 GRCh38
 Deletion
 Yes
  szatmari_07_ASD_discovery_cases-NAAR007-B6-8159-203
 NA
 
 ASD
 NA
 NA
 67640186
 68836059
  1195874
 GRCh38
 Deletion
 Yes
  van_daalen_11_ASD_discovery_cases-S2
 6 yrs. 8 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autistic disorder. SRS score: 90. No family history of ASD and/or intellectual disability. Facial dysmorphic features, minor malformations & congenital anomalies. Family phenotypes: father's SRS score, 21; mother's SRS score, 42.
 Mullen Scales of Early Learning (MSEL) cognitive score: 69
 63880271
 63918083
  37813
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB253338_1007841376
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65199224
  65230129
  30906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB276411_1007854167
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65192321
  65229010
  36690
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB356202_1007844561
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65199224
  65230129
  30906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB466917_1007874508
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65199224
  65230129
  30906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB582098_1007870332
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65199224
  65230129
  30906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB596934_1007874627
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65131002
  65185404
  54403
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB653212_1007874323
  N/A
  N/A
  Control
  No previous psychiatric history
 
  68113023
  68155789
  42767
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB772514_1007874267
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65199224
  65230129
  30906
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
  N/A
  N/A
  Control
  No previous psychiatric history
 
  69120315
  69214706
  94392
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902480_902480
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65741483
  65900844
  159362
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
  N/A
  N/A
  Control
  No previous psychiatric history
 
  65493393
  65695917
  202525
  GRCh38
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1247
  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
 
  65206583
  65212596
  6014
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1274
  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
 
  65854178
  65861502
  7325
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1402
  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
 
  65206583
  65211507
  4925
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split968
  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
 
  65206583
  65212596
  6014
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control12101.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  69023176
  69035115
  11940
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13864.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  69104463
  69122386
  17924
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11002.s1
  10.4
  M
  Control (matched sibling)
  NA
  NA
  68580493
  68594525
  14033
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  67239115
  67289601
  50487
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11391.s1
  18.1
  M
  Control (matched sibling)
  NA
  NA
  66874549
  66876268
  1720
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11505.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  65725110
  65894932
  169823
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11549.s1
  21.9
  F
  Control (matched sibling)
  NA
  NA
  65243923
  65248470
  4548
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11685.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  65132272
  65133087
  816
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11700.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  65745126
  65748166
  3041
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12063.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  68856493
  68873498
  17006
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12101.s1
  5.1
  M
  Control (matched sibling)
  NA
  NA
  69015640
  69033722
  18083
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case55113
 MLPA
 
 Maternal
 Unknown
 Unknown
 NDUFB4P1,SUCLG2
 
 brand_15_ASD_discovery_cases-case6
 
 
 Maternal
 Simplex
 Unknown
 
 
 brand_15_ASD_discovery_cases-case6
 
 
 Maternal
 Simplex
 Unknown
 LINC02040,MAGI1
 
 brand_15_ASD_discovery_cases-case6
 
 
 Maternal
 Simplex
 Unknown
 
 
 christian_08_ASD_discovery_cases-AU003404
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 COPS8P2,PSMC1P1,RNA5SP135,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300768
 
 
 Unknown
 
 
 RNA5SP135,MIR3136,RBM43P1,EOGT,TMF1,ARL6IP5,LMOD3,FAM19A4,UBA3,FRMD4B
 
 engchuan_15_ASD_discovery_cases-case13118_1353
 
 
 Unknown
 
 
 LINC02040
 
 engchuan_15_ASD_discovery_cases-case14188_3120
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3218_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3492_3
 
 
 Unknown
 
 
 MAGI1
 
 engchuan_15_ASD_discovery_cases-case4233_1
 
 
 Unknown
 
 
 SAMMSON
 
 engchuan_15_ASD_discovery_cases-case5364_3
 
 
 Unknown
 
 
 
 
 fan_19_ASD_discovery_cases-caseASD343
 
 
 Unknown
 Unknown
 Unknown
 RNU6-787P,RN7SL482P,RPL21P41,MIR4272,NDUFB4P1,COPS8P2,PSMC1P1,RNA5SP135,MIR3136,KBTBD8,EOGT,TMF1,ARL6IP5,LMOD3,SLC25A26,LRIG1,SUCLG2,SUCLG2-AS1,UBA3,FRMD4B
 
 gai_11_ASD_replication_cases-AU003404
 
 
 Inherited
 
 
 SUCLG2, FAM19A1, FAM19A4, FAM19A4
 
 girirajan_13a_ASD_discovery_cases-11464.p1
 
 
 Unknown
 Simplex
 Unknown
 LINC02040,MAGI1
 
 girirajan_13a_ASD_discovery_cases-AU1718301
 
 
 Unknown
 Multiplex
 Unknown
 FOXP1,FOXP1-AS1
 
 hamdan_10_ID_discovery_cases-patientA
 MLPA
 
 De novo
 Simplex
 Possibly segregated
 FOXP1,FOXP1-AS1
 
 itsara_10_ASD_discovery_cases-HI4074
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 MAGI1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 COX6CP6,HMGB1P36,RNU6-281P,SAMMSON,FOXP1,FOXP1-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001679
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPL17P17,RNU6-787P,RN7SL482P,RPL21P41,MAGI1-AS1,MAGI1,MAGI1-IT1,SLC25A26,LRIG1
 
 krumm_15_ASD_discovery_cases-case11464.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 MAGI1
 
 krumm_15_ASD_discovery_cases-case12025.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SLC25A26
 
 krumm_15_ASD_discovery_cases-case12101.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TMF1
 
 krumm_15_ASD_discovery_cases-case13864.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ARL6IP5,LMOD3
 
 leppa_16_ASD_discovery_cases-AU003404
 
 
 Paternal
 Multiplex
 Segregated (CNV present in affected siblings, not present in unaffected siblings)
 COPS8P2,PSMC1P1,RNA5SP135,EOGT,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 leppa_16_ASD_discovery_cases-AU003406
 
 
 Paternal
 Multiplex
 Segregated (CNV present in affected siblings, not present in unaffected siblings)
 COPS8P2,PSMC1P1,RNA5SP135,EOGT,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 
 
 palumbo_13_ASD_discovery_cases-case1
 Array SNP (Affymetrix CytoScan HD array)
 
 De novo, paternal chromosome
 Simplex
 Likely segregated
 COX6CP6,HMGB1P36,RNU6-281P,SAMMSON,FOXP1,FOXP1-AS1
 
 prasad_12_ASD_discovery_cases-case107433
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_230
 
 
 Unknown
 
 Unknown
 ILF2P1,RPL17P17,RNU6-787P,MAGI1-AS1,MAGI1,MAGI1-IT1,SLC25A26
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-095
 qPCR
 
 Paternal
 Unknown
 Unknown
 RBM43P1,FRMD4B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-127
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 FRMD4B
 
 sanders_11_ASD_discovery_cases-11464.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC02040,MAGI1
 
 sanders_11_ASD_discovery_cases-11549.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11700.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 MAGI1
 
 sanders_11_ASD_discovery_cases-12063.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FAM19A4
 
 sanders_11_ASD_discovery_cases-12101.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TMF1
 
 sanders_11_ASD_discovery_cases-12228.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12582.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 MAGI1
 
 sanders_11_ASD_discovery_cases-13013.p1
 
 
 Unknown
 Simplex (trio)
 NA
 MITF
 
 szatmari_07_ASD_discovery_cases-NAAR007-B2-8159-101
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 szatmari_07_ASD_discovery_cases-NAAR007-B4-AU32503
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 szatmari_07_ASD_discovery_cases-NAAR007-B6-8159-203
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 COPS8P2,PSMC1P1,SUCLG2,SUCLG2-AS1,FAM19A4,FAM19A1
 
 van_daalen_11_ASD_discovery_cases-S2
 FISH
 
 De novo
 Simplex
 NA
 SCAANT1,ATXN7
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253338_1007841376
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB276411_1007854167
 
 
  Unknown
 
 
  LINC02040
 
engchuan_15_ASD_discovery_controls-controlB356202_1007844561
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB466917_1007874508
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB582098_1007870332
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB596934_1007874627
 
 
  Unknown
 
 
  LINC02040
 
engchuan_15_ASD_discovery_controls-controlB653212_1007874323
 
 
  Unknown
 
 
  COPS8P2,FAM19A1
 
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
 
 
  Unknown
 
 
  LMOD3,FRMD4B
 
engchuan_15_ASD_discovery_controls-controlHABC_902480_902480
 
 
  Unknown
 
 
  RPL17P17,MAGI1-AS1,MAGI1,MAGI1-IT1
 
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
 
 
  Unknown
 
 
  ILF2P1,MAGI1
 
kanduri_15_ASD_discovery_controls-control_split1247
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=127310)
 
kanduri_15_ASD_discovery_controls-control_split1274
 
 
  Unknown
 
 
  MAGI1 (intronic)
 
kanduri_15_ASD_discovery_controls-control_split1402
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=128399)
 
kanduri_15_ASD_discovery_controls-control_split968
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ADAMTS9-AS2(dist=209440),MAGI1(dist=127310)
 
krumm_15_ASD_discovery_controls-control12101.s1
  Illumina 1MDuo
 
  Maternal
 
 
  TMF1
 
krumm_15_ASD_discovery_controls-control13864.s1
  Omni2.5-4v1
 
  Paternal
 
 
  ARL6IP5,LMOD3
 
sanders_11_ASD_discovery_controls-11002.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11391.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11505.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL17P17,MAGI1-AS1,MAGI1,MAGI1-IT1
 
sanders_11_ASD_discovery_controls-11549.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11685.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11700.s1
 
 
  Maternal
  Simplex (quad)
  NA
  MAGI1
 
sanders_11_ASD_discovery_controls-12063.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FAM19A4
 
sanders_11_ASD_discovery_controls-12101.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TMF1
 

No Animal Model Data Available
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