15q13.1-q13.3CNV Type: Deletion
Largest CNV size: 3670000 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
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
chilakamarri_22_ASD/DD_discovery_cases
First-born child of healthy non-consanguineous parents of Hispanic ethnicity with family history notable for a 4-year-old brother with ASD presenting with a 15q11.2-q13.1 triplication and a 15q13.1-q13.3 duplication.
1
Case was diagnosed with autism spectrum disorder and also presented with developmental delay.
6 yrs. 4 mos.
Female
3433401
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
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
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
3005624
0
1
1
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
3114575
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
chilakamarri_22_ASD/DD_discovery_cases
United States
Array SNP
Reveal SNP Microarray Pediatric Kit
NA
NA
None
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
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
chilakamarri_22_ASD/DD_discovery_cases-case1
6 yrs. 4 mos.
F
ASD and developmental delay
Birth/neonatal history: pregnancy complicated by unspecified maternal arrhythmias during the third trimester; uncomplicated vaginal delivery at 40 weeks gestation; birth weight 3062 g (35th %ile), birth length approximately 48 cm (32nd %ile); history of neonatal feeding difficulties and hypotonia. Developmental milestones: developmental delay (sat unaided at 1 years, walked at 3 years with several episodes of falling). Language and communication evaluation: verbal function at a 2-year-old level at age of 6 years. Motor and musculoskeletal evaluation: proximal hypotonia; hyperlordosis; scoliosis; bilateral toe syndactyly; ataxic gait. Behavioral/psychiatric evaluation: development of behavioral issues around 2 years of age (self-injury to the head, dermatophagia of the fingers, trichotillomania, trichophagia, repetitive language, motor stereotypies, preference for isolated play, significant auditory defensiveness), establishing a diagnosis of autism spectrum disorder (ASD); sleep disturbance. Epilepsy/seizures: two episodes of seizure-like activity at 1 and 4 years of age. Dysmorphic features: bitemporal narrowing, arched eyebrows, epicanthus folds inversus, telecanthus, left strabismus, depressed nasal bridge, short nose, long and broad smooth philtrum, thin upper lip vermillion, everted vermillion of the lower lip, high and narrow palate, large and protruding ears with prominent antihelix and everted antitragus, one cafe-au-lait macule on the left pectoral region. Growth parameters: weight 18.14 kg (13th %ile), height 116.21 cm (42nd %ile), BMI 13.4 (5th %ile). Family history: first-born child of healthy non-consanguineous parents of Hispanic ethnicity; family history notable for a 4-year-old brother with ASD.
Intellectual delay
28713632
32147032
3433401
GRCh38
Duplication
No
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
han_22_ASD/DD/ID_discovery_cases-case19D1034
15 mos. 16 days
M
Developmental delay
28713633
31719256
3005624
GRCh38
Duplication
No
hu_23_ASD_discovery_cases-case1
NA
F
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
29053884
32168458
3114575
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
chilakamarri_22_ASD/DD_discovery_cases-case1
De novo
Multiplex
APBA2,CHRNA7,KLF13,MTMR10,NSMCE3,CHRFAM7A,ULK4P3,ARHGAP11B,OTUD7A,SYNGR2P1,UBE2CP4,HERC2P10,WHAMMP2,MIR211,PDCD6IPP2,GOLGA8Q,GOLGA8J,GOLGA6L7,HMGN2P5,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,DEPDC1P1,TRPM1,DNM1P28,ULK4P2,NCAPGP2,GOLGA8UP,TUBBP8,DNM1P50,GOLGA8R,LINC02352,ARHGAP11B-DT,RN7SL196P,TJP1,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL673P,RN7SL82P,RNU6-466P,RN7SL796P,LINC02249,FAN1,FAM189A1
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
han_22_ASD/DD/ID_discovery_cases-case19D1034
Unknown
APBA2,KLF13,MTMR10,NSMCE3,CHRFAM7A,ULK4P3,ARHGAP11B,OTUD7A,SYNGR2P1,UBE2CP4,HERC2P10,WHAMMP2,MIR211,PDCD6IPP2,GOLGA8Q,GOLGA8J,GOLGA6L7,HMGN2P5,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,TRPM1,DNM1P28,ULK4P2,NCAPGP2,GOLGA8UP,TUBBP8,DNM1P50,GOLGA8R,LINC02352,ARHGAP11B-DT,RN7SL196P,TJP1,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL673P,RN7SL82P,RNU6-466P,RN7SL796P,LINC02249,FAN1,FAM189A1
hu_23_ASD_discovery_cases-case1
qPCR/MLPA
Unknown
APBA2,CHRNA7,KLF13,MTMR10,NSMCE3,CHRFAM7A,ULK4P3,ARHGAP11B,OTUD7A,SYNGR2P1,UBE2CP4,HERC2P10,MIR211,GOLGA8Q,GOLGA8J,HMGN2P5,GOLGA8H,GOLGA8T,DNM1P30,DEPDC1P1,TRPM1,DNM1P28,ULK4P2,NCAPGP2,GOLGA8UP,TUBBP8,DNM1P50,GOLGA8R,LINC02352,ARHGAP11B-DT,RN7SL196P,TJP1,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL673P,RN7SL82P,RNU6-466P,RN7SL796P,LINC02249,FAN1,FAM189A1
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