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15q13.1-q13.3CNV Type: Deletion


Largest CNV size: 3670000 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Deletion
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
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-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment.
Deletion
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Deletion
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Deletion
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ben-shacher_09_ASD_discovery_cases
 Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
 N/A
 ASD
 
 
 3400000
 1
 0
 1
 ben-shacher_09_combined_discovery_cases
 Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
 8200
 Developmental delay, mental retardation, dysmorphic features, congenital anomalies, ASD, or general suspicion of a chromosomal anomaly
 
 
 3400000
 1
 0
 1
 bowling_17_DD/ID_discovery_cases
 Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
 371
 Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
 Average age of 10.56 yrs. (range: 2-54 yrs.)
 57.7% Male
 3248627
 2
 0
 2
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 3577350
 2
 0
 2
 breuss_19_ASD_discovery_cases
 ASD probands from the REACH cohort and from a cohort of ASD probands with an additional diagnosis of epilepsy (NYU Medical School)
 20
 Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
 N/A
 N/A
 3577352
 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
 3674022
 1
 0
 1
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
 18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
 18
 7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
 Average, 9.9 years
 66.67% Male
 3231000
 0
 1
 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
 4050000
 0
 1
 1
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 4050000
 0
 4
 4
 gregory_09_ASD_discovery_cases
 Probands from multiplex autism families
 119
 Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
 
 78.15% Male
 3403913
 1
 0
 1
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 1715523
 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
 4190313
 2
 1
 3
 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
 3500000
 1
 0
 1
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
 Adults with 15q13.3 deletions; one case from a cohort of 459 adults with schizophrenia (case 1); two adult probands from a collection of 11,150 clinical samples submitted for clinical microarray at the Hospital for Sick Children (cases 5 and 7); and a sample submitted to the Hospital for Sick Children for parental testing following the birth of an affected child (case 6).
 4
 All four cases present with some degree of developmental delay/intellectual disability or learning disability. Additional diagnoses/phenotypes include schizophrenia (n=1), epilepsy (n=1), ADHD (n=1), major depression (n=2), and anxiety (n=2).
 Range, 39-65 yrs.
 Female
 3490000
 1
 0
 1
 pettigrew_15_SLI_discovery_cases
 64 probands and 22 siblings selected from a sample of children participating in a longitudinal study of reading and language development
 86
 Probands recruited for preschool language impairment and/or having a family risk of dyslexia
 N/A
 N/A
 3080000
 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
 
 
 3670000
 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
 3433942
 1
 0
 1
 yap_21_ASD_discovery_cases
 ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
 723
 Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
 Range, 2-17 yrs.
 NA
 3388942
 1
 0
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 4046999
 0
 3
 3
 ziats_16_DD/ID/ADHD/ASD_discovery_cases
 Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).
 18
 Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-II; the Autism Diagnostic Interview-Revised (ADI-R); the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); the Adaptive Behavior Assessment System, Second Edition (ABAS-II); and the Behavioral Assessment for Children, Second Edition (BASC-2).
 Mean age, 14.0 yrs.
 77.78% Male
 N/A
 3
 0
 3

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 gregory_09_ASD_discovery_controls
 Samples from 27 sex-mismatched hybridizations
 54
 Controls
 
 50% Male
 3403913
 0
 0
 0
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 1715523
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ben-shacher_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH, Agilent 44K
 ADM-2
 Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
 FISH
 ben-shacher_09_combined_discovery_cases
 
 aCGH
  BACs aCGH, Agilent 44K
 ADM-2
 Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
 FISH
 bowling_17_DD/ID_discovery_cases
  N/A
 CMA, WGS
  Microarray platform N/A, WGS platform Illumina HiSeq Xs
 
 
 None
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 breuss_19_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 ForestSV, Lumpy, Mobster
 SAMtools v.1.2, GATK v.3.3, Picard Tools v.1.129
 PCR, ddPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
  N/A
 CMA
  Platform N/A
 
 
 MLPA
 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
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 gregory_09_ASD_discovery_cases
 
 aCGH
  BACs aCGH
 BioDiscovery RSA
 Bluefuse, Nexus
 aCGH
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 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
 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
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
  Caucasian
 Array SNP, N/A
  Affymetrix 6.0
 
 
 None
 pettigrew_15_SLI_discovery_cases
  United Kingdom
 Solid phase hybridization
  Illumina Human OmniExpress-24
 PennCNV, QuantiSNP
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v1.9.0
 qPCR
 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)
 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
 yap_21_ASD_discovery_cases
  Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
 Solid phase hybridization
  Illumina Global Screening Array v1 and v2
 PennCNV, iPattern
 GenomeStudio v.2.0.4
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
 ziats_16_DD/ID/ADHD/ASD_discovery_cases
  N/A
 CMA
 
 
 
 MLPA

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  gregory_09_ASD_discovery_controls
 
  aCGH
  BACs aCGH
  BioDiscovery RSA
  Bluefuse, Nexus
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ben-shacher_09_ASD_discovery_cases-caseF1-1
 NA
 
 ASD
 Moderate language delay, no seizures, mild stereotypic behavior, benign hydrocephalus, mild Chiari I; weight 50%, height 30%, FOC >>97%
 DQ 58
 
 
  3400000
 Unknown
 Deletion
 Yes
  bowling_17_DD/ID_discovery_cases-case00140-C
 N/A
 N/A
 Intellectual disability, epilepsy, ADHD, and ODD
 Intellectual disability (moderate); Speech delay; Seizures; Short stature; ADHD; oppositional defiant disorder (ODD); CT Brain: normal
 Moderate intellectual disability
 28693028
 31894597
  3201570
 GRCh38
 Deletion
 No
  bowling_17_DD/ID_discovery_cases-case00140-S
 N/A
 N/A
 Intellectual disability, epilepsy, and ADHD
 Intellectual disability (moderate); Seizures; ADHD; Conduct disorder
 Moderate intellectual disability
 28693028
 31894597
  3201570
 GRCh38
 Deletion
 No
  brandler_18_ASD_discovery_cases-caseMT_26.3
 N/A
 M
 PDD-NOS
 Case from REACH cohort
 
 28919298
 32496649
  3577352
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSJD_63.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 28919298
 32496649
  3577352
 GRCh38
 Deletion
 Yes
  breuss_19_ASD_discovery_cases-caseF19_II-1
 N/A
 N/A
 ASD
 Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).
 
 28919298
 32496649
  3577352
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case1950_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28717954
 32356670
  3638717
 GRCh38
 Deletion
 No
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient4
 9 yrs.
 M
 ADHD
 Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: None. Developmental milestones: normal. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height <5th %ile, weight <5th %ile, OFC <3rd %ile. Ethnicity: Caucasian/Native American. Family history: carrier parental phenotype, mother has a history of intellectual disability and speech delay; noncarrier parental phenotype, father committed suicide at age 23; CHRNA7 duplication is present in 1/2 siblings with unspecified neuropsychiatric conditions.
 Full scale ratio IQ (DAS-II): 77.
 28921584
 32153051
  3231468
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11928.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
 28580813
 32595507
  4014695
 GRCh38
 Duplication
 Yes
  girirajan_13a_DD_discovery_cases-DDcase158
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28580813
 32595507
  4014695
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase159
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28580813
 32595507
  4014695
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase160
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28580813
 32595507
  4014695
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase161
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 28580813
 32595507
  4014695
 GRCh38
 Duplication
 No
  gregory_09_ASD_discovery_cases-200511146
 NA
 
 ASD
 NA
 NA
 28754095
 32122702
  3368608
 GRCh38
 Deletion
 Yes
  griswold_12_ASD_discovery_cases-case17630
 NA
 NA
 ASD/autism
 NA
 NA
 30626045
 32341570
  1715526
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000102
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28314197
 32343758
  4029562
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28918473
 32149250
  3230778
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002402
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 28918473
 32606466
  3687994
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU1024301
 N/A
 M
 ASD
 
 
 28717854
 32222799
  3504946
 GRCh38
 Deletion
 No
  lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case7
 51 yrs.
 F
 Intellectual disability and ADHD
 Language and communication evaluation: delayed speech. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ADHD. Other featuresL acquired hearing loss, type 2 diabetes mellitus, hypercholesterolemia, cholecystectomy, strabismus. Growht parameters: OFC 50th %ile, height of 150 cm (short stature), BMI of 37.5 kg/m2. Family history: two siblings with seizures (15q13.3 deletion status unknown)
 Mild-moderate intellectual disability
 28917417
 32414682
  3497266
 GRCh38
 Deletion
 No
  pettigrew_15_SLI_discovery_cases-proband62
 7 yrs. 8 mos.
 N/A
 Language impairment
 Birth/neonatal history: born prematurely after induced birth; birth weight just below 2500 g. Developmental milestones: first words at 21 months (>1 SD of cohort mean age at first word); first steps at 16 months (1 SD above cohort mean age of first walking). Language and communication evaluation: proband fulfilled criteria for language impairment and speech sound disorder (presented at 3 years 7 months with difficulty producing speech-sounds coupled with problems of expressive and receptive language development at first evaluation timepoint); some immature speech processes (e.g. fronting) still present at 6 years. Motor and musculoskeletal evaluation: poor performance on Movement-ABC test for fine motor skills. Family history: both parents and sibling score above average on cognitive tests, no family histoty of dyslexia or language impairment; family history of motor problems was reported.
 Non-verbal IQ >70 throughout (no evidence of ID, but notably lower at age of 7.8 years than earlier in development); slow start in learning to read; weak phonological awareness, but reading and spelling skills within normal range.
 N/A
 N/A
  3080000
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1950_301
 NA
 M
 Autism
 Non verbal, poor suck at birth, no epilepsy
 No IQ available (untestable by Raven)
 28717954
 32356670
  3638717
 GRCh38
 Deletion
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_180
 10 yrs.
 F
 ASD and intellectual disability
 ASD, macrocephaly
 Intellectual disability
 28765109
 32151995
  3386887
 GRCh38
 Deletion
 No
  yap_21_ASD_discovery_cases-case3305166
 NA
 M
 ASD, developmental delay, and epilepsy/seizures
 Global developmental delay (MSEL 6th %ile (composite score 77), speech delay), bilateral clinodactylyl, born with two-vessel umbilical cord, chronic constipation, history of seizures, macrocephaly (>98th %ile). Already diagnosed with 15q13.1-13.3 deletion and XYY Chromosome. Multiple siblings (not in AAB) and second-degree relatives with autism
 
 28833958
 32222899
  3388942
 GRCh38
 Deletion
 No
  yuen_17_ASD_discovery_cases-caseAU3124302
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 28455855
 32455799
  3999945
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3124304
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 28703855
 32451799
  3747945
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-caseAU3124311
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 28703855
 32451799
  3747945
 GRCh38
 Duplication
 No
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case12
 17 yrs.
 M
 Developmental delay
 Original reason for referral: global developmental delay, hyperactivity. Developmental milestones: sitting at 13 months, crawling at 16 months, walking at 16 months; first word at 16 months, 2 word sentences at 24 months. ADOS Summary: not autism or ASD. ADI-R summary: autism/ASD; Total A score of 14 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 2 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 81 (10th %ile, average qualitative range); Conceptual Composite Score of 78 (7th %ile, borderline qualitative range); Social Composite Score of 80 (9th %ile, below average qualitative range); Practical Composite Score of 88 (21st %ile, below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 69 (%ile rank 95); Internalizing T score of 63 (%ile rank 90); Behavioral T score of 61 (%ile rank 88); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 62 (%ile rank 88); Aggression T score of 77 (%ile rank 98); Conduct problems T score of 62 (%ile rank 89); Anxiety T score of 72 (%ile rank 97); Depression T score of 66 (%ile rank 93); Somatization T score of 43 (%ile rank 22); Atypicality T score of 42 (%ile rank 18); Withdrawal T score of 47 (%ile rank 46); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 37 (%ile rank 12); Social skills T score of 31 (%ile rank 3); Leadership T score of 34 (%ile rank 6); Activities of daily living T score of 37 (%ile rank 10); Functional communication T score of 47 (%ile rank 36). History of seizures: no. History of hypotonia: no. Growth parameters: height 44th %ile (Z score -0.14), weight 18th %ile (Z score -0.92), OFC 81st %ile (Z score 0.87). Family history: affected brother also carries 15q13.1-q13.3 deletion (case 16 in this report). 15q13.3 microdeletion breakpoints: BP3-BP5.
 Differential Ability Scales-II results: VRIQ, 60.5; NVRIQ, 44.3; FSRIQ, 49.8.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case16
 14 yrs.
 M
 ASD, ID, and seizures
 Original reason for referral: mild developmental delay, mild intellectual disability, ASD, oppositional defiance. Developmental milestones: sitting at 9 months, walking at 15 months; first word at 60 months, 2 word sentences at 72 months; age of crawling unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 23 (cutoff 10), Total B verbal scoreof 19 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 49 (<0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 61 (<0.5th %ile, extremely low qualitative range); Social Composite Score of 55 (<0.1st %ile, extremely low qualitative range); Practical Composite Score of 46 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 57 (%ile rank 80); Internalizing T score of 37 (%ile rank 5); Behavioral T score of 59 (%ile rank 84); Adaptive skills T score of 26 (%ile rank 1); Hyperactivity T score of 58 (%ile rank 82); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 59 (%ile rank 85); Anxiety T score of 33 (%ile rank 2); Depression T score of 48 (%ile rank 52); Somatization T score of 38 (%ile rank 5); Atypicality T score of 66 (%ile rank 92); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 26 (%ile rank 1); Social skills T score of 27 (%ile rank 1); Leadership T score of 30 (%ile rank 2); Activities of daily living T score of 29 (%ile rank 2); Functional communication T score of 34 (%ile rank 7). History of seizures: frontal-lobe epilepsy. History of hypotonia: no. Growth parameters: height 39th %ile (Z score -0.28), weight >99th %ile (Z score 2.76), OFC >99th %ile (Z score 3.64). Family history: affected brother also carries 15q13.1-q13.3 deletion (case 12 in this report). 15q13.3 microdeletion breakpoints: BP3-BP5.
 Differential Ability Scales-II results: VRIQ, 60.8; NVRIQ, 52; FSRIQ, 54.9.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes
  ziats_16_DD/ID/ADHD/ASD_discovery_cases-case4
 12 yrs.
 M
 ADHD and behavioral problems
 Original reason for referral: ADHD, multiple behavioral problems, mild learning problem. Developmental milestones: sitting at 6 months, crawling at 8 months, walking at 9 months; first word at 13 months, 2 word sentences at 18 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 6 (cutoff 10), Total B verbal score of 4 (cutoff 8), Total C scoreof 4 (cutoff 3), Total D score of 2 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 55 (0.1th %ile); Conceptual Composite Score of 67 (1st %ile); Social Composite Score of 58 (0.3rd %ile); Practical Composite Score of 50 (<0.1st %ile). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 84 (%ile rank 99); Internalizing T score of 86 (%ile rank 99); Behavioral T score of 86 (%ile rank 99); Adaptive skills T score of 31 (%ile rank 4); Hyperactivity T score of 78 (%ile rank 98); Aggression T score of 72 (%ile rank 96); Conduct problems T score of 92 (%ile rank 99); Anxiety T score of 83 (%ile rank 99); Depression T score of 97 (%ile rank 99); Somatization T score of 57 (%ile rank 81); Atypicality T score of 76 (%ile rank 97); Withdrawal T score of 76 (%ile rank 98); Attention Problems T score of 68 (%ile rank 95); Adaptibility T score of 35 (%ile rank 9); Social skills T score of 41 (%ile rank 21); Leadership T score of 34 (%ile rank 6); Activities of daily living T score of 31 (%ile rank 4); Functional communication T score of 30 (%ile rank 4). History of seizures: no. History of hypotonia: no. Growth parameters: height 12th %ile (Z score -1.17), weight 17th %ile (Z score -0.94), OFC 93rd %ile (Z score 1.45). 15q13.3 microdeletion breakpoints: BP3-BP5.
 Differential Ability Scales-II results: VRIQ, 71; NVRIQ, 95; FSRIQ, 87.
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ben-shacher_09_ASD_discovery_cases-caseF1-1
 FISH
 
 Unknown
 NA
 NA
 
 
 bowling_17_DD/ID_discovery_cases-case00140-C
 
 
 Unknown
 Multiplex
 Possibly segregated
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,FAM189A1,GOLGA8R
 
 bowling_17_DD/ID_discovery_cases-case00140-S
 
 
 Unknown
 Multiplex
 Possibly segregated
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,FAM189A1,GOLGA8R
 
 brandler_18_ASD_discovery_cases-caseMT_26.3
 PCR or SNP data validation
 
 Maternal
 
 
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 brandler_18_ASD_discovery_cases-caseSJD_63.3
 PCR or SNP data validation (SNP VCF)
 
 De novo
 
 
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 breuss_19_ASD_discovery_cases-caseF19_II-1
 PCR, ddPCR
 
 De novo
 
 
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,HERC2P10,MTMR10,KLF13,ULK4P1,APBA2,TJP1,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 engchuan_15_ASD_discovery_cases-case1950_301
 
 
 Unknown
 
 
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient4
 MLPA
 
 Maternal
 Multi-generational
 Not segregated or incomplete segregation
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 girirajan_13a_ASD_discovery_cases-11928.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 girirajan_13a_DD_discovery_cases-DDcase158
 
 
 Unknown
 
 
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 girirajan_13a_DD_discovery_cases-DDcase159
 
 
 Unknown
 
 
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 girirajan_13a_DD_discovery_cases-DDcase160
 
 
 Unknown
 
 
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 girirajan_13a_DD_discovery_cases-DDcase161
 
 
 Unknown
 
 
 RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 gregory_09_ASD_discovery_cases-200511146
 aCGH dye swap
 
 Unknown
 NA
 NA
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 griswold_12_ASD_discovery_cases-case17630
 qPCR
 
 Maternal
 Multiplex
 Segregated
 GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000102
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,HERC2,FAM189A1,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002187
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002402
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 leppa_16_ASD_discovery_cases-AU1024301
 
 
 Maternal
 Multiplex
 Not segregated (CNV not present in affected siblings)
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case7
 
 
 Unknown
 Multiplex
 Unknown
 NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 pettigrew_15_SLI_discovery_cases-proband62
 qPCR
 
 De novo
 Simplex
 Segregated
 Gene content N/A (start and end points of CNV not reported)
 
 pinto_10_ASD_discovery_cases-case1950_301
 Illumina550-Maternal
 
 maternal
 NA
 NA
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 quintela_17_DD/ID_discovery_cases-caseID_180
 
 
 Unknown
 
 Unknown
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 yap_21_ASD_discovery_cases-case3305166
 
 
 Unknown
 Extended multiplex
 
 APBA2,CHRNA7,KLF13,MTMR10,NSMCE3,ULK4P3,ARHGAP11B,CHRFAM7A,OTUD7A,SYNGR2P1,UBE2CP4,HERC2P10,MIR211,PDCD6IPP2,GOLGA8Q,GOLGA8H,GOLGA6L7,HMGN2P5,DNM1P30,GOLGA8J,GOLGA8T,DEPDC1P1,TRPM1,DNM1P28,ULK4P2,NCAPGP2,GOLGA8UP,GOLGA8R,DNM1P50,TUBBP8,LINC02352,RN7SL196P,TJP1,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL82P,RN7SL673P,RNU6-466P,RN7SL796P,FAM189A1,FAN1,LINC02249
 
 yuen_17_ASD_discovery_cases-caseAU3124302
 Not available
 
 Paternal
 Multiplex
 Possibly segregated
 MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 yuen_17_ASD_discovery_cases-caseAU3124304
 Not available
 
 Paternal
 Multiplex
 Possibly segregated
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 yuen_17_ASD_discovery_cases-caseAU3124311
 Not available
 
 Paternal
 Simplex
 Unknown
 GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,FAM189A1,GOLGA8R
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case12
 MLPA
 
 Maternal
 Multiplex
 Possibly segregated
 GOLGA6L7P,APBA2,FAM189A1,NDNL2,TJP1,FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case16
 MLPA
 
 Maternal
 Multiplex
 Possibly segregated
 GOLGA6L7P,APBA2,FAM189A1,NDNL2,TJP1,FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 
 ziats_16_DD/ID/ADHD/ASD_discovery_cases-case4
 MLPA
 
 Unknown (not maternal)
 
 
 GOLGA6L7P,APBA2,FAM189A1,NDNL2,TJP1,FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
 

Controls

No Control Data Available
No Animal Model Data Available
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