9q33.1CNV Type: Deletion-Duplication
Largest CNV size: 99387 bp
Statistics Box:
Number of Reports: 31
Number of Reports: 31
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variation characteristics in subpopulations of patients with 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
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
Deletion-Duplication
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
101247
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
277443
0
1
1
bauleo_21_ASD/ADHD/DD/ID_discovery_cases
Five patients (three from the same family) with 9q33.1 CNVs affecting the ASTN2 gene that were referred from child neuropsychiatry service ASP Cosenza.
5
Two cases were diagnosed with autism spectrum disorder (diagnosis established according to the Statistical Manual of Mental Disorders, Fifth Edition (APA 2013) criteria), while two another cases presented with ADHD; developmental delay and intellectual disability was observed in 3/5 cases.
Range, 6-12 yrs.
60% Male
205347
4
1
5
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
223398
3
0
3
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
118868
3
0
3
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
50000
1
0
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
103800
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
797131
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
1121199
0
1
1
digregorio_17_DD/ID_discovery_cases
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
222000
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
2117217
7
3
10
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
38286
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
20478
1
0
1
granata_25_ASD_discovery_cases
"Patients recruited from the Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit of ""ASST Sette Laghi"", Varese, Italy."
122
Cases diagnosed with ASD based on DSM-5 criteria and presented without epilepsy, dysmorphic features, intellectual disability, microcephaly, six or more minor anomalies, or systemic congenital malformations.
Range, 3-12 yrs.
85.25% Male
140201
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
122761
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
157100
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
2233647
1
3
4
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
71564
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
192679
3
0
3
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
71565
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
197741
4
1
5
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
192680
3
0
3
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
2993330
46
12
58
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
124000
1
0
1
martucci_23_ASD_discovery_cases
Children with ASD recruited between February 2016 and August 2021 at the Child Neuropsychiatry Unit of Umberto I Hospital, Sapienza University
130
Cases clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS
Mean age, 3.4 yrs. (range, 2-6 yrs)
83.85% Male
425853
0
1
1
mitani_21_DD/ID_discovery_cases
Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
299
Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
NA
NA
14180
1
0
1
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
687000
0
1
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
99387
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
416360
2
0
2
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
118661
3
0
3
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
71902
4
3
7
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
99387
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
120299
2
0
2
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
96682
4
0
4
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
522698
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
159800
1
1
2
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
299171
2
1
3
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
1
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
4
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1828
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
29739
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_controls
Individuals from population-based control cohorts and non-neurodevelopmental disorder studies from Ontario ARCTIC, POPGEN, Ottawa Heart Institute, HapMap Phase 3, Starr County Diabetes study, Geneva NHS/HPFS Diabetes study, ISC, OPGP, Population Diagnostics, EDIC Diabetes study, WTCCC, SAGE, Health ABC, KORA, COGEND, Shaikh et al., Cooper et al., Fernandez et al., and Vrijenhoek et al
44085
Control (individuals without neurodevelopmental disorders)
N/A
N/A
2265991
19
5
24
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
2241062
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)
118661
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.
71902
2
2
4
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
120299
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bauleo_21_ASD/ADHD/DD/ID_discovery_cases
Italy
CMA
Agilent Human Genome 4x180K, Oxford CytoSure ISCA v3 4x180K
ADM-2, Circular Binary Segmentation
Agilent CytoGenomics v.3.0, CytoSure Interpret Software (v.4.8.32 or v.4.10.44)
qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
NGS (XHMM)
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
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
granata_25_ASD_discovery_cases
Italy
aCGH
CytoSure ISCA V3 4x180K
CytoSure Interpret (OGT)
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
FISH, MLPA, microarray, qPCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
martucci_23_ASD_discovery_cases
Italy
Array SNP
Affymetrix Genome-Wide Human 6.0
Affymetrix ChAS v.4.0
RT-PCR
mitani_21_DD/ID_discovery_cases
Turkey
WES, WGS
Illumina HiSeq2000, Illumina NovaSeq6000
NA
XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
ddPCR
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lionel_13_ASD/ADHD/DD/ID_discovery_controls
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case47
2 yrs.
M
Developmental delay and autistic features
Lack of response, lack of socialization, hyperactivity, delayed speech, poor eye contact, self-injurious behaviours. Growth parameters: height 0.84 m, weight 10.5 kg, head circumference 48 cm. Family history: no data on familial consanguinity.
116645502
116746748
101247
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB405
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
117409216
117686658
277443
GRCh38
Duplication
Yes
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case1
12 yrs.
M
ADHD
Language and communication evalution: no speech disorder reported. Behavioral/psychiatric evaluation: ADHD, impulsivity, emotional lability, mood disorder. Family history: two affected siblings who also carry the 9q33.1 microdeletion, which was inherited from a healthy parent.
Normal cognition
116500905
116570815
69911
GRCh38
Deletion
No
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case2
6 yrs.
F
Developmental delay and intellectual disability
Developmental milestones: speech delay. Language and communication evaluation: expressive language disorder. Behavioral/psychiatric evaluation: emotional lability. Family history: two affected siblings who also carry the 9q33.1 microdeletion, which was inherited from a healthy parent.
Mild intellectual disability
116500905
116570815
69911
GRCh38
Deletion
No
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case3
6 yrs.
M
ASD
Language and communication evaluation: no speech disorder reported. Behavioral/psychiatric evaluation: autism spectrum disorder (diagnosis established according to the Statistical Manual of Mental Disorders, Fifth Edition (APA 2013) criteria), deficits in nonverbal communcative behaviors used for social interaction. Family history: two affected siblings who also carry the 9q33.1 microdeletion, which was inherited from a healthy parent.
Normal cognition
116500905
116570815
69911
GRCh38
Deletion
No
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case4
11 yrs.
M
ADHD, developmental delay, and intellectual disability
Developmental milestones: speech delay. Behavioral/psychiatric evaluation: ADHD. Family history: CNV inherited from a healthy parent.
Intellectual disability
117292833
117479257
186425
GRCh38
Duplication
Yes
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case5
8 yrs.
F
ASD, developmental delay, and intellectual disability
Developmental milestones: delayed speech and language. Behavioral/psychiatric evaluation: autism spectrum disorder (diagnosis established according to the Statistical Manual of Mental Disorders, Fifth Edition (APA 2013) criteria). EEG: paroxymsal epileptic abnormalities over the left frontotemporal region enhanced by hyperventilation, drowsiness, and sleep. Family history: CNV inherited from a healthy parent.
Intellectual disability, deficits in working memory
116841560
117046906
205347
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseMT_195.3
N/A
M
ASD
Case from REACH cohort
116763455
116986853
223399
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseMT_195.4
N/A
M
ASD
Case from REACH cohort
116763455
116986853
223399
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseMT_89.3
N/A
M
ASD
Case from REACH cohort
116760963
116874835
113873
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case2-1317-003
N/A
M
ASD
Case from MSSNG cohort
116603777
116722644
118868
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0066-001
N/A
M
ASD
Case from MSSNG cohort
116666956
116770433
103478
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU1894303
N/A
M
ASD
Case from MSSNG cohort
116678241
116692758
14518
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case11
7
F
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
116748516
116799973
51458
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0066-001
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: born at 38 weeks following delivery notable for shoulder dystocia, large for gestational age (birth weight 10 lbs.). Developmental milestones: first words with meaning at 12 months. Additional medical history: diffuse patchy hyperpigmentation on both legs. Dysmorphic features: wide mouth, deep-set finger and toe nails. Family history: deletion was also present in a brother with ASD and their mother, who had no neurodevelopmental phenotype.
Cognitive evaluation at 12 years 5 months demonstrated a full scale IQ score of 108, a listening comprehension standard score of 77 (6th centile), and an oral expression standard score of 75 (5th centile).
116666722
116770521
103800
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case354
N/A
M
Developmental delay
Consanguineous parents, quadriparesis, developmental delay, facial dysmorphism and ostium secundum
115647664
116444794
797131
GRCh38
Duplication
No
costa_21_ASD_discovery_cases-caseP43
NA
M
ASD and ADHD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: scruff scarf, macrocrania, ADHD.
115366324
116487522
1121199
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299884
23 yrs.
F
Intellectual disability and speech delay
Delayed speech and language development, a history of developmental delay, microcephaly, lower limb dysmetria. CNV present in affected mother (special education in school) and a younger sister with moderate ID, langauge delay, strabismus and nystagmus on the right eye, mild thoracic scoliosis, hypertrichosis, and ventricular enlargement and increased thickness of the corpus callosum on MRI.
Mild intellectual disability
116328021
116550123
222103
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14328_4420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116766199
116798805
32607
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14417_5260
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
115509305
115925664
416360
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case20115_1548001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117114675
117165231
50557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2158_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116750644
116787772
37129
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3055_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117452398
117572697
120300
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4177_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117160277
119277495
2117219
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4324_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116442681
116529539
86859
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5316_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116669184
116768570
99387
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8597_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
118439424
118491944
52521
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8658_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116506682
116545905
39224
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU0943302
Autism
118511702
118549987
38286
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case686-3
6 yrs.
M
ASD
ASD; no other clinical information provided
N/A
116785032
116805510
20479
GRCh38
Deletion
No
granata_25_ASD_discovery_cases-caseA065
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
116624725
116764925
140201
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case365
19 yrs.
F
ASD
Diagnosis of Asperger syndrome. Family history: a sibling with Asperger syndrome also carries the 9q33.1 deletion.
116610857
116733617
122761
GRCh38
Deletion
Yes
kalsner_17_ASD_discovery_cases-case11
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
116657193
116814307
157115
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002185
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
116588311
117510401
922091
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002619
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
116716155
117646662
930508
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004157
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
117189877
119261350
2071474
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004525
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
117830627
120064274
2233648
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0113
18 yrs.
M
ASD
Family history: negative.
IQ > 70
116611967
116683530
71564
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0107
36 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 33 years of age (core symptoms include auditory hallucinations, passivity experiences). Congenital and developmental phenotypes: birth asphyxia. Family history: negative.
IQ > 70
116683530
116876208
192679
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0844
69 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include auditory hallucinations, persecutory delusions, psychomotor agitation, avolition, severe cognitive decline). Brain imaging: lateral ventricular enlargement and sylvian fissure widening on brain CT. Physical comorbidities: osteoporosis, lumbar compression fracture. Family history: positive for schizophrenia (SCZ).
IQ > 70
116634744
116742416
107673
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1258
64 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 25 years of age (core symptoms include persecutory delusions, aggressive behavior, negative symptoms, cognitive decline), OCD-like symptoms (compulsive checking). Brain imaging: frontal atrophy and basal ganglia calcification on brain CT. Physical comorbidities: lower extremity weakness. Family history: positive.
IQ > 70
116683530
116733612
50083
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0113
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
116611966
116683530
71565
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0821
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
116708220
116905960
197741
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1316
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
116767969
116807722
39754
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1427
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
117289164
117339824
50661
GRCh38
Duplication
Yes
kushima_22_BPD_discovery_cases-caseBD1858
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
116807721
116843180
35460
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1983
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
116664168
116688353
24186
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0107
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
116683529
116876208
192680
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0844
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
116634743
116742416
107674
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1258
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
116683529
116733612
50084
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case1
N/A
M
ADHD and anxiety disorder
Bilateral hydronephrosis (resolved). Speech/language delay, mild hyperactivity/ADHD, mild anxiety disorder, mild ODD. Family history: no neuropsychiatric phenotype in parents and siblings, maternal uncle has reports of depression and psychosis.
Learning difficulties
116152328
116554143
401816
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case10
2 yrs 10 months
M
ASD
Speech/language delay, autism/autistic behavior (PDD-NOS). Family history: mother with deletion is neurotypical.
116556737
116926170
369434
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case11
8 yrs 6 months
M
Intellectual disability
Gross motor delay, fine motor delay, mild speech/language delay, sleep disturbance. Dysmorphic features and congenital anomalies: strabismus (wears corrective lenses), mild myopia, born with natal teeth. Family history: mother with deletion has anxiety, depression, and learning disability.
Moderate intellectual disability, learning difficulties
116588336
116722332
133997
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case12
6 yrs
M
ADHD
Speech/language delay, hyperactivity/ADHD, CNS disorder. Karyotyping: arr Xp22.33q28(216,519-154,881,514)x1~2.ish Xcen(DXZ1x1-2), Ycen(DYZ3x1) - UCS.
116593667
116718401
124735
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case13
22 months
M
Hydrocephalus
Hydrocephalus
116593667
116793333
199667
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
22 months
M
Anxiety disorder
Speech/language delay, autism/autistic behavior, anxiety disorder. Dysmorphic features and congenital anomalies: no dysmorphic features by Dev Peds, generalized hypotonia, tonsils/adenoids removed, heart murmur, 3 holes in heart (healed without intervention). Family history: mother with deletion is neurotypical.
116605029
116721410
116382
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case15
16 yrs
M
Behavioral problems
Behavioral problems
116619070
116880992
261923
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case16
2 yrs 8 months
M
Developmental delay and epilepsy
Feeding difficulties (velopharyngeal insufficiency with nasal reflux), mild gross motor delay, speech/language delay (no speech), developmental delay, seizures. Dysmorphic features and congenital anomalies: bitemporal narrowing, broad nasal root, mild telecanthus, laryngobronchio malacia.
116628485
116767456
138972
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case17
14 yrs
M
Developmental delay
Developmental delay, gross motor delay, fine motor delay, speech/language delay. Dysmorphic features and congenital anomalies: small joint hypermobility.
116628485
116808807
180323
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case18
N/A
M
Intellectual disability
Macrocephaly. Dysmorphic features and congenital anomalies: epicanthic folds, strabismus, small hypoplastic deep-set nails. Family history: brother with deletion has ID, one parent has learning disability (not tested).
Intellectual disability
116638835
116782315
143481
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case19
7 yrs
M
Chronic static encephalopathy
Chronic static encephalopathy. Short stature. Dysmorphic features and congenital anomalies: facial dysmorphism not otherwise specified.
116657194
116814307
157114
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case2
4 yrs
M
Intellectual disability
Head circumference -1.5 SD while length -3 SD, growth restriction, short stature, feeding difficulties, born at GA 42 weeks, W 2820g, L 49 cm. Suspected Silver Russel, not confirmed. Frequent infections. Teeth problems (remaining primary teeth necrotic). Dysmorphic features and congenital anomalies: asthmatic bronchitis. Family history: mother with dyslexia, learning disability, and psychomotor delay.
Mild intellectual disability
116253233
116844804
591572
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case20
N/A
M
Developmental delay
Developmental delay, tic disorder
Learning difficulties
116667613
116722212
54600
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case21
N/A
M
ADHD, anxiety disorder, and OCD
Hyperactivity/ADHD, mild OCD, mild anxiety disorder, sleep disturbance, mild tics, mild oppositional behavior. Deletion present in unaffected brother, paternal DNA not available, but deletion is likely paternal (no neuropsychiatric phenotype except for possible attention deficits in childhood).
116677793
116825537
147745
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case22
12 yrs 6 months
M
ASD, ADHD, and OCD
Macrocephaly, feeding difficulties. Speech/language delay, autism/autistic behavior, short attention span (no formal diagnosis of hyperactivity/ADHD), OCD (obsessional thoughts and difficulty distinguishing fantasy from reality at 10 years of age), 2 seizures and abnormal EEG at 12 years of age, normal brain MRI at 13 years of age, aggressive behavior, oppositional behavior. Dysmorphic features and congenital anomalies: long midface, malar hypoplasia, long palpebral fissures, deep-set finger & toe nails; overfolded superior helices, scoliosis (8 degree centered at T11 at 12y), left bifid renal collecting system, congenitally everted eyelids. Family history: mother with depression and anxiety (carries deletion), brother with deletion has ASD, speech/language delay, deep set finger & toe nails, diffuse hyperpigmentation of legs; sister with deletion has macrocephaly, long upslanting palpebral fissures, right sectorial iris heterochromia, deepset fingernails, hyper extensible elbows and hand joints.
116677942
116768347
90406
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case23
16 yrs
M
Anxiety disorder and OCD
OCD, anxiety disorder
116679208
116851931
172724
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case24
N/A
M
ASD and epilepsy
Autism/autistic behavior, seizures, epilepsy
116686104
116756174
70071
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
N/A
M
Non-NDD
Karyotyping: 46,XY,t(5;11)(p12;p15.4).arr Xq28(153,473,411-153,620,513)x3-UCS, 9q33.1(118,814,591-118,867,559)x3-UCS-LB.
116686104
116898557
212454
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
N/A
M
Non-NDD
Karyotyping: 46,XY,t(5;11)(p12;p15.4).arr Xq28(153,473,411-153,620,513)x3-UCS, 9q33.1(118,814,591-118,867,559)x3-UCS-LB.
117012491
117065459
52969
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case26
N/A
M
ADHD and anxiety disorder
Hyperactivity/ADHD, anxiety disorder, sleep disturbance. Family history: father has anxiety; deletion absent in brother with no reported phenotypes
Learning difficulties
116691176
116868508
177333
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case27
N/A
M
Non-NDD
Dysmorphic features and congenital anomalies: abnormal hairline, facial assymetry, cleft lip/palate, cutis aplasia, malar hypoplasia, micro/retrognathia, Pierre-Robin sequence, hypodontia, slender tapering fingers, deep set eyes, minor skin syndactyly. Family history: neuropsychiatric phenotype in carrier mother is unknown.
116695659
116859573
163915
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case28
6 yrs
M
ASD and anxiety disorder
Macrocephaly, speech/language delay, autism/autistic behavior (Asperger), anxiety disorder, poor social development, poor eye contact, impulsive, behaviour issues, physical behaviours rather than using vocabulary, personal space issues, spinning, easily frustrated/overwhelmed, constipation (possibly behavioural). Family history: father with deletion has social issues by self-report; mother has learning disability, ADHD, and bipolar disorder.
Above-average IQ
116700194
116814307
114114
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case29
12 months
M
Microcephaly
Microcephaly. Dysmorphic features and congenital anomalies: multiple congenital abnormalities, bilateral iris coloboma, bicuspid aortic valve, aortic stenosis.
116728043
116767456
39414
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
N/A
M
Chiari I malformation
Growth restriction, low birth weight. Chiari I malformation. Dysmorphic features and congenital anomalies: transverse palmar crease, cleft lip/palate.
116267549
117877571
1610023
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case30
13 yrs
M
NDD
Neurodevelopmental/neurological phenotypes: dysgraphia, migraines, dizziness.
116739080
116883365
144286
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case31
N/A
M
Developmental delay
Developmental delay. Gross motor delay, fine motor delay, speech/language delay. Communication disorder, developmental coordination disorder, hypotonia. Dysmorphic features and congenital anomalies: dysmorphic features not otherwise specified.
116770837
116835150
64314
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
23 yrs
M
ASD
Autism/autistic behavior (Asperger), structural brain anomaly. Family history: apparently normal mother (has deletion)
116778217
117012491
234275
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case33
3 yrs
M
Developmental delay
Developmental delay
116778791
116828418
49628
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case34
12 yrs
M
ASD and anxiety disorder
Macrocephaly (98th %ile). Mild gross motor delay, fine motor delay, autism/autistic behavior (PDD-NOS), generalized anxiety disorder, under-rotated hippocampi, 6 mm pineal cyst, aggressive behaviour, oppositional behaviour, hydrocephalus (as infant). Dysmorphic features and congenital anomalies: myopia, upslanting/short (-2 S.D.) palpebral fissures, thin body habitus, long slender tapering fingers, thin arms/legs, prominent costal bones, long face, bitemporal narrowing, malar hypoplasia, high arched palate, prominent nose, hydrocephalus, weak grip strength, discoordinated rapid alternating movements, high blood pressure (130/78 mmHg). Family history: father has behavioral issues (DNA N/A for testing).
Average/above-average IQ, learning difficulties
116814247
117104958
290712
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case35
5 yrs
M
ASD
Autism/autistic behavior
116817963
116979001
161039
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
N/A
M
ASD and developmental delay
Autism/autistic behavior, developmental delay
116941166
117189877
248712
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case37
7 yrs
M
Intellectual disability and OCD
Feeding difficulties, speech/language delay, OCD, aggressive behavior. Dysmorphic features and congenital anomalies: broad fore head, flat philtrum, thin vermilion border, achromic striae in mammalian region, fifth finger hypoplasia, strabismus, hyperopia, dolicocephaly, flat foot. Family history: neuropsychiatric phenotype in carrier parent (father) is unknown.
Mild intellectual disability
117037927
117132927
95001
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case38
N/A
M
Non-NDD
Multiple congenital anomalies.
117072847
117307518
234672
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case39
5 yrs 5 months
F
Developmental delay and ADHD
Microcephaly, neonatal feeding difficulties. Speech/language delay, hyperactivity/ADHD, sleep disturbance, socialization problems. Dysmorphic features and congenital anomalies: thin body habitus, sleer arms/legs, repeated facial grimmacing to right, mildly advanced bone age at 18 months. Family history: mother with deletion has dyslexia and learning disability.
116397143
116446850
49708
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case4
0 days
M
MCA
Macrocephaly, oligohydramnios, hydrocephalus. Dysmorphic features and congenital anomalies: undescended testis, hemivertebrae, contractures, club foot, echogenic bowel, ventricular septal defect, patent ductus arteriosus.
116328021
117227757
899737
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case40
7 yrs 17 months
F
Developmental delay
Feeding difficulties, fetal alcohol syndrome, fetal amphetamine exposure. Gross motor delay, fine motor delay, speech/language delay. Autistic features (repetitive rotation of wrists, repetitive neck extension, makes guttural noises associated with hyperventilation, limited social engagement). Dysmorphic features and congenital anomalies: mild epicanthic folds, plagiocephaly, broad nasal bridge, left divergent squint, single hockeystick palmar crease, short, wide palms, short 5th fingers, hypotonia, hypermobile joints (knee, ankle). Family history: neuropsychiatric phenotype in carrier parent (father) is unknown; maternal family history of psychotic episodes and addiction).
116400705
116425259
24555
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case41
N/A
F
MCA
Macrocephaly. Dysmorphic features and congenital anomalies: multiple congenital anomalies overgrowth, Wilm's tumor diagnosed at 18 months, minor dysmorphic features.
116400711
116657463
256753
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case42
11 yrs
F
Intellectual disability
Gross motor delay, fine motor delay, speech/language delay, significant early hypotonia, severe seizures at 3 months, mild assymetry in temporal horns. Dysmorphic features and congenital anomalies: epicanthic folds, synophyris, short nose with small upturned tip. Family history: Mother with deletion is neurotypical.
Intellectual disability
116588336
116722332
133997
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case44
7 yrs
F
Non-NDD
Short stature, non-dysmorphic, mild cubitus valgus.
116695659
116859573
163915
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case45
12 yrs
F
Intellectual disability and ADHD
Gross motor delay, speech/language delay, hyperactivity/ADHD, disturbed sensory integration, difficulties in social interaction. Dysmorphic features and congenital anomalies: Severe constipation (biopsy excluded Hirschsprung), recurrent middle ear infections. Hypertrofic tonsils (tonsillectomy performed). Asthmatic bronchitis. Family history: father with deletion had learning support in 7/8 grade for language subjects; healthy sister also has deletion.
Intellectual disability, learning difficulties.
116806098
116867789
61692
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case46
6 yrs
F
Non-NDD
Short stature. Family history: neuropsychiatric phenotype of carrier parent (mother) is unknown.
116926140
117189936
263797
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
14 months
F
Septo-optic dysplasia
Septo-optic dysplasia, overgrowth hormone abnormality.
117027718
117088515
60798
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case48
6 yrs 7months
M
ASD, anxiety disorder, and epilepsy
Feeding difficulties (GER, resolved), gross motor delay, fine motor delay, autism/autistic behavior, anxiety disorder, sleep disturbances, physically awkward, very verbal, benign familial neonatal seizure disorder (resolved at 2 yrs.), slightly decreased tone, normal reflexes, slender arms/legs, wears corrective lenses. Family history: mother with deletion has ASD (adult diagnosis) with high-average IQ. Brother with deletion has ASD, ADHD, OCD, reading difficulty, sleep disturbance, difficulty with change, sensory issues, tics, aggressive behaviour and recurrent ear infections. Absent in unaffected brother (benign neontal seizure disorder present in all three sibs). Maternal fhx of attentional difficulty, social difficulty, dyslexia
Above-average IQ, learning difficulties (reading)
116461509
116506541
45033
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case49
N/A
M
ASD and ADHD
PDD-NOS, hyperactivity/ADHD
Learning difficulties
117097740
120091070
2993331
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case5
16 yrs
M
ASD, ADHD, and OCD
Microcephaly (OFC 2nd-5th %ile), height 2nd-5th %ile, weight 2nd-5th %ile, growth restriction, short stature, low birth weight (2353 g). Gross motor delay, fine motor delay, speech/language delay, autism/autistic behavior (Asperger), hyperactivity/ADHD, OCD. Dysmorphic features and congenital anomalies: thin body habitus, sleer tapering fingers, upslanting palpebral fissures, hyperopia, mild micro/retrognathia, wide-spaced teeth, 3 caf au lait spots, darker skin than family members, kyphosis/scoliosis. Family history: mother has mental health issues (maternal DNA not available for testing).
Low average IQ, learning difficulties.
116362172
116556605
194434
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case50
14 yrs
M
ASD and intellectual disability
Microcephaly, gross motor delay, fine motor delay, speech/language delay, autism/autistic behavior, inappropriate behavior. Dysmorphic features and congenital anomalies: frontal bossing, long face, high-arched palate, thin body habitus, deep set eyes, scoliosis, patent foramen ovale. Family history: father has mild neuropsychiatric phenotype.
Intellectual disability, learning disabilities
117113918
118073556
959639
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case51
26 yrs
M
Intellectual disability
Oligohydramnios, gross motor delay, fine motor delay, speech/language delay, anxiety disorder, sleep disturbance (sleep apnea), inappropriate language, aggressive behaviour, oppositional behaviour, bilateral caudate stroke, arterial hypertension. Dysmorphic features and congenital anomalies: weight at 26:136 kg, height 177 cm, high-arched palate, mild developmental delay of the carpal ossification centers, ventricular hypertrophy, acute myopericarditis at 24 years, gynecomastia. Family history: neurotypical mother.
Intellectual disability, learning difficulties.
117132868
118101205
968338
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case52
1 day
M
Non-NDD
Macrocephaly. Dysmorphic features and congenital anomalies: dysmorphic facies, prominent forehead, hypoplastic jaw, large protruding occiput, hypothyroidism. Karyotyping: mos arr 5p13.2q12.1 (35,237,418-61,234,725)x3, dn-UCS (mosaic supernumerary ring). Family history: mother has polydactyly but no other known features.
117132868
119269252
2136385
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case53
2 yrs
M
Encephalocele
Encephalocele.
116280045
119252823
2972779
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case54
8 yrs
M
Learning difficulties
Family history: mother has Chr13 abnormality.
Learning difficulties
116280045
119252823
2972779
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case55
16 yrs
M
Non-NDD
Dysmorphic features and congenital anomalies: multiple congenital anomalies.
117189876
117479051
289176
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case56
7 yrs
M
Intellectual disability and ADHD
Gross motor delay, fine motor delay, speech/language delay (no language). Hyperactivity/ADHD. Oppositional behavior. Microcephaly (head circumference of 33 cm), feeding difficulties. Dysmorphic features and congenital anomalies: abnormal hairline, facial assymetry, prominent nose, high-arched palate, thin body habitus, unilateral epicanthic folds, downslanting palpebral fissures, high arched eyebrow, scoliosis, club foot, atrial septal defect. Family history: father is neurotypical.
Intellectual disability, learning difficulties.
117240441
117495193
254753
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case57
2 months
M
Non-NDD
Dysmorphic features and congenital anomalies: dysmorphic features not otherwise specified, unilateral hand ectrodactyly.
117313594
117698626
385033
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
N/A
F
Intellectual disability
Dysmorphic features and congenital anomalies: frontal bossing, craniosynostosis.
Intellectual disability
117097770
118480524
1382755
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case6
18 and 21.5 yrs
M
ASD, anxiety disorder, and OCD
Macrocephaly. Mild gross motor delay, mild fine motor delay (poor hand condition), speech/language delay, autism/autistic behavior, decreased attention span (no formal diagnosis of hyperactivity/ADHD), severe OCD, severe anxiety disorder, sleep disturbance (difficulty falling asleep but then stays asleep, fatigue in a.m.), depression, suicidal ideation, panic attacks. Dysmorphic features and congenital anomalies: abnormal anterior and posterior hairline, mild facial assymetry (mandible and nasal bridge slightly deviated to left), broad nose with narrow nasal bridge, long face, bitemporal narrowing, short stature, stocky build, brachydactyly, deep set eyes with prominent supraorbital ridges, downslanting palpebral fissures, mild astigmatism (no correction), prognathic, crowded teeth, significant underbite (class III malocclusion), progressive coarse features with age, synophrys, lumbar lordosis, mild contractures of elbows (joint normal), rhizomelic shortening of arms/legs, bowed legs, atrial tachycardia (ablated as a child).
Learning difficulties
116488960
116859574
370615
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case7
13 months
M
Developmental delay and autistic features
Growth restriction, short stature. Gross motor delay, speech/language delay, autism/autistic behavior, hyperactivity/ADHD, developmental delay, hypersensitivty to touch and sound. Dysmorphic features and congenital anomalies: excessive hair growth.
116525295
116793333
268039
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case8
N/A
M
Developmental delay and epilepsy
Developmental delay, seizures
116540836
116883336
342501
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case9
N/A
M
Developmental delay and anxiety disorder
Developmental delay, anxiety disorder, macrocephaly.
116556546
116657463
100918
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown217
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
116690544
116814307
123764
GRCh38
Deletion
No
martucci_23_ASD_discovery_cases-case9
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: moderate. Language and communication evaluation: verbal. EEG: negative. Family history: two sisters with speech delay.
DQ/IQ score 50-70.
116243426
116669278
425853
GRCh38
Duplication
Yes
mitani_21_DD/ID_discovery_cases-caseBAB10738
11 mos.
M
Developmental delay
Birth/neonatal history: born at term by C-section due to prenatally detected brain abnormalities. Developmental milestones: severe developmental delay (unable to hold his head up, no tracking). Brain imaging: hydrocephalus, cerebellar hypoplasia, diffuse lissencephaly, colpocephaly, agenesis of the corpus callosum. Additional medical history: mildly increased liver enzymes. Dysmorphic features: abnormally shaped skull, sunset eyes, dysplastic and low-set ears.Family history: first child of consanguineous (second cousins) Turkish parents.
116643291
116657470
14180
GRCh38
Deletion
Yes
peycheva_18_ID/EP_discovery_cases-case223
13 yrs.
M
ID and epilepsy
Language and communication evaluation: absent speech. Behavioral/psychiatric evaluation: normal. Epilepsy/seizures: generalized tonic-clonic seizures, absence seizures. Dysmorphic features: large and low-set ears, soft tissue formation on the left hip, backside hyperpigmentation. Growth parameters: obesity.
Mild intellectual disability
116540806
117227757
686952
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5316_3
NA
M
ASD
NA
NA
116669184
116768570
99387
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case14417_5260
N/A
M
ASD
Autism on ADI-R, ASD on ADOS, language delay (first words 42 mo, first phrases 48 mo), verbal. Family history: N/A.
Griffiths at 3 y 7 mo: language DQ 55, performance DQ 102, global DQ 74
115509305
115925664
416360
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20115_1548001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
117114675
117165231
50557
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case128963
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118405793
118524453
118661
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154271L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118469513
118571248
101736
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case84657
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
118570848
118604812
33965
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11113.p1
15
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 91
116747887
116787772
39886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
117157752
117170279
12528
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
116763369
116771458
8090
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12492.p1
15.4
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 30; verbal IQ, 19
115492709
115564611
71903
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
115420879
115427241
6363
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
115492709
115564611
71903
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
116763369
116771458
8090
GRCh38
Duplication
No
tammimies_15_ASD_discovery_cases-case3-0066-000
N/A
M
ASD
Medicated for aggression and obessive thoughts, hyperactive with a short attention span. Dysmorphic features: macrocephaly, malar hypoplasia, long midface, overfolded superior helices, deep-set nails.
Normal intelligence (IQ of 108)
116669184
116768570
99387
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case3-0115-000
N/A
M
ASD
N/A
N/A
117512868
117517460
4593
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-3055-004
N/A
M
ASD
N/A
N/A
117452398
117572697
120300
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0697-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
116610220
116617790
7571
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0811-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
116675722
116768887
93166
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-caseAU1894303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
116678222
116692758
14537
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU4259307
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
116742539
116839221
96683
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0811-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
116677929
116770863
92935
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1055-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
116289997
116812694
522698
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1755-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
116633979
116659081
25103
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
bacchelli_20_ASD_discovery_controls-control20020
N/A
M
Control
Control
116933653
116973601
39949
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control20152
N/A
M
Control
Control
116676632
116836431
159800
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB383984_1007874900
N/A
N/A
Control
No previous psychiatric history
116816965
117057762
240798
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
N/A
N/A
Control
No previous psychiatric history
117626891
117926062
299172
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902519_902519
N/A
N/A
Control
No previous psychiatric history
115492709
115564611
71903
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control12301.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
115400345
115402173
1829
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1696
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
117279658
117309396
29739
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF11
N/A
F
Control
Control from KORA dataset
116576304
116647264
70961
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF12
N/A
F
Control
Control from WTCCC dataset
116669184
116708680
39497
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF13
N/A
F
Control
Control from WTCCC dataset
116676632
116741463
64832
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF14
N/A
F
Control
Control from KORA dataset
116698996
116705717
6722
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF15
N/A
F
Control
Control from HapMap dataset
116712421
116729133
16713
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF16
N/A
F
Control
Control from EDIC dataset
116741463
116819859
78397
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF17
N/A
F
Control
Control from KORA dataset
117015565
117219330
203766
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF23
N/A
F
Control
Control from NHGRI dataset
116677793
116706256
28464
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM1
N/A
M
Control
Control from OPGP dataset
116559083
116722034
162952
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM10
N/A
M
Control
Control from Shaikh dataset
117026851
117125298
98448
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM2
N/A
M
Control
Control from Cooper (Chianti) dataset
116695698
116728293
32596
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM20
N/A
M
Control
Control from SAGE dataset
116816965
117057762
240798
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM21
N/A
M
Control
Control from EDIC dataset
116849551
117243145
393595
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM22
N/A
M
Control
Control from Shaikh dataset
116851586
117525430
673845
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM3
N/A
M
Control
Control from NHGRI dataset
116710821
116782326
71506
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM4
N/A
M
Control
Control from NHGRI dataset
116721410
116787263
65854
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM5
N/A
M
Control
Control from Population Diagnostics dataset
116730261
116737707
7447
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM6
N/A
M
Control
Control from Population Diagnostics dataset
116753726
116855425
101700
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM7
N/A
M
Control
Control from NHGRI dataset
116756291
116816965
60675
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM8
N/A
M
Control
Control from WTCCC dataset
116849551
117077049
227499
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM9
N/A
M
Control
Control from WTCCC dataset
116964695
117180370
215676
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU18
N/A
N/A
Control
Control from ISC dataset
116525276
116708095
182820
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU19
N/A
N/A
Control
Control from Cooper (ParcPrince) dataset
116963446
117037305
73860
GRCh38
Deletion
No
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU24
N/A
N/A
Control
Control from ISC dataset
116990875
119256866
2265992
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29728A
N/A
F
Control
NIMH Control (NIMH ID 24227)
117008090
119249152
2241063
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
116211637
116863735
652099
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12301.s1
16.8
F
Control (matched sibling)
NA
NA
115399318
115402295
2978
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12492.s1
13.1
M
Control (matched sibling)
NA
NA
115492709
115564611
71903
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
116763369
116771458
8090
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
119478125
119517143
39019
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case47
Unknown
ASTN2,TRIM32
annunziata_21_ASD_discovery_cases-caseIB405
qPCR, FISH
Unknown
RPL35AP22,ASTN2
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case1
Maternal
Multiplex
Segregated
ASTN2-AS1,ASTN2
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case2
Maternal
Multiplex
Segregated
ASTN2-AS1,ASTN2
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case3
Maternal
Multiplex
Segregated
ASTN2-AS1,ASTN2
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case4
qPCR
Maternal
ASTN2
bauleo_21_ASD/ADHD/DD/ID_discovery_cases-case5
qPCR
Paternal
ASTN2
brandler_18_ASD_discovery_cases-caseMT_195.3
PCR or SNP data validation
Paternal
ASTN2
brandler_18_ASD_discovery_cases-caseMT_195.4
PCR or SNP data validation
Paternal
ASTN2
brandler_18_ASD_discovery_cases-caseMT_89.3
PCR or SNP data validation
Maternal
ASTN2
brandler_18_ASD_replication_cases-case2-1317-003
No validation step reported
Maternal
TRIM32,ASTN2
brandler_18_ASD_replication_cases-case3-0066-001
No validation step reported
Maternal
TRIM32,ASTN2
brandler_18_ASD_replication_cases-caseAU1894303
No validation step reported
Paternal
TRIM32,ASTN2
bremer_11_ASD_discovery_cases-case11
MLPA, FISH
Paternal
NA
NA
ASTN2
chan_22_ASD_discovery_cases-case3-0066-001
Maternal
Multiplex
Segregated
ASTN2,TRIM32
chaves_19_ASD/DD/ID_discovery_cases-case354
Unknown
PAPPA-AS2,PAPPA-AS1,LINC00474,ASTN2,PAPPA
costa_21_ASD_discovery_cases-caseP43
NGS (XHMM)
Maternal
DELEC1,LINC00474,PAPPA-AS1,PAPPA,PAPPA-AS2,ASTN2
digregorio_17_DD/ID_discovery_cases-DECIPHER_299884
qPCR
Maternal
Maternal
Multi-generational
Segregated
PAPPA-AS1,ASTN2,ASTN2-AS1,PAPPA
engchuan_15_ASD_discovery_cases-case14328_4420
Unknown
ASTN2
engchuan_15_ASD_discovery_cases-case14417_5260
De novo
LINC00474
engchuan_15_ASD_discovery_cases-case20115_1548001
Unknown
ASTN2
engchuan_15_ASD_discovery_cases-case2158_1
Unknown
ASTN2
engchuan_15_ASD_discovery_cases-case3055_4
Unknown
engchuan_15_ASD_discovery_cases-case4177_1
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,BRINP1
engchuan_15_ASD_discovery_cases-case4324_1
Unknown
ASTN2,ASTN2-AS1
engchuan_15_ASD_discovery_cases-case5316_3
Unknown
TRIM32,ASTN2
engchuan_15_ASD_discovery_cases-case8597_201
Unknown
engchuan_15_ASD_discovery_cases-case8658_201
Unknown
ASTN2,ASTN2-AS1
gai_11_ASD_replication_cases-AU0943302
Inherited
ASTN2
gazzellone_14_ASD_discovery_cases-case686-3
Unknown
Unknown
Unknown
ASTN2
granata_25_ASD_discovery_cases-caseA065
Maternal
ASTN2,TRIM32
husson_20_ASD_discovery_cases-case365
ddPCR, QMPSF, or aCGH
Maternal
Multiplex
Segregated
TRIM32,ASTN2
kalsner_17_ASD_discovery_cases-case11
Maternal
Unknown
Unknown
TRIM32,ASTN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002185
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TRIM32,RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,ASTN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002619
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,ASTN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004157
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,BRINP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004525
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TPT1P9,LINC02578,TUBB4BP6,LINC01613,BRINP1
kushima_18_ASD_discovery_cases-caseASD0113
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Simplex
Unknown
ASTN2
kushima_18_SCZ_discovery_cases-caseSCZ0107
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
TRIM32,ASTN2
kushima_18_SCZ_discovery_cases-caseSCZ0844
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
TRIM32,ASTN2
kushima_18_SCZ_discovery_cases-caseSCZ1258
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
TRIM32,ASTN2
kushima_22_ASD_discovery_cases-caseASD0113
qRT-PCR
Paternal
ASTN2
kushima_22_BPD_discovery_cases-caseBD0821
qRT-PCR
Unknown
ASTN2
kushima_22_BPD_discovery_cases-caseBD1316
qRT-PCR
Unknown
ASTN2
kushima_22_BPD_discovery_cases-caseBD1427
qRT-PCR
Unknown
ASTN2
kushima_22_BPD_discovery_cases-caseBD1858
qRT-PCR
Unknown
ASTN2
kushima_22_BPD_discovery_cases-caseBD1983
qRT-PCR
Unknown
ASTN2,TRIM32
kushima_22_SCZ_discovery_cases-caseSCZ0107
qRT-PCR
Unknown
ASTN2,TRIM32
kushima_22_SCZ_discovery_cases-caseSCZ0844
qRT-PCR
Unknown
ASTN2,TRIM32
kushima_22_SCZ_discovery_cases-caseSCZ1258
qRT-PCR
Unknown
ASTN2,TRIM32
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case1
qPCR
Paternal
PAPPA-AS2,PAPPA-AS1,ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case10
Microarray
Maternal
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case11
Microarray
Maternal
Maternal
Multi-generational
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case12
qPCR
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case13
FISH
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case14
qPCR
Maternal
TRIM32,ASTN2
Reduced ASTN2 expression
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case15
FISH
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case16
FISH
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case17
FISH
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case18
Unknown
Multiplex
Segregated
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case19
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case2
MLPA
Maternal
PAPPA-AS2,PAPPA-AS1,TRIM32,ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case20
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case21
qPCR
Unknown (not maternal, likely paternal)
Simplex
Not segregated (deletion present in unaffected brother)
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case22
qPCR
Maternal
Maternal
Multi-generational
Segregated
TRIM32,ASTN2
Reduced ASTN2 expression
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case23
qPCR
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case24
Paternal
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case25
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case26
qPCR
Paternal
Paternal
Multi-generational
Likely segregated
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case27
Microarray
Maternal
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case28
Paternal
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case29
qPCR
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
FISH
Paternal
PAPPA-AS2,PAPPA-AS1,TRIM32,RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TLR4,ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case30
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case31
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case32
qPCR
Maternal
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case33
qPCR
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case34
Microarray
Unknown (not maternal)
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case35
FISH
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
De novo
RPL10P3,SNORA70C,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case37
MLPA
Paternal
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case38
qPCR
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case39
Microarray
Maternal
Maternal
Multi-generational
PAPPA-AS1,ASTN2,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case4
FISH
Unknown
PAPPA-AS1,TRIM32,RPL10P3,SNORA70C,RN7SKP128,ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case40
Microarray
Paternal
ASTN2,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case41
Unknown
ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case42
Microarray
Maternal
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case44
Microarray
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case45
MLPA
Possibly paternal
Paternal
Possibly multi-generational
Not segregated (deletion present in unaffected sister)
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case46
FISH
Maternal
RPL10P3,SNORA70C,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case48
qPCR
Maternal
Maternal
Multi-generational (case's mother and brother have ASD; both have ASTN2 deletion)
Segregated (deletion segregates with ASD)
ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case49
Maternal
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,LINC01613,TLR4,ASTN2,BRINP1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case5
Microarray
Unknown (not paternal)
PAPPA-AS1,ASTN2,ASTN2-AS1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case50
Microarray
Paternal
Paternal
Multi-generational
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TLR4,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case51
MLPA
Maternal
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,TLR4,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case52
FISH
Maternal
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,BRINP1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case53
qPCR
Unknown
PAPPA-AS2,PAPPA-AS1,TRIM32,RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,ASTN2-AS1,BRINP1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case54
qPCR
Unknown
PAPPA-AS2,PAPPA-AS1,TRIM32,RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,ASTN2-AS1,BRINP1,PAPPA
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case55
Maternal
RN7SKP128,RN7SKP125,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case56
Microarray
Paternal
RN7SKP125,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case57
qPCR
Unknown
RPL35AP22,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,TLR4,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case6
FISH
De novo
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case7
FISH
Unknown
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case8
Unknown
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case9
Unknown
ASTN2,ASTN2-AS1
maini_18_ASD/DD/ID_discovery_cases-case_unknown217
Maternal
Unknown
Unknown
TRIM32,ASTN2
martucci_23_ASD_discovery_cases-case9
RT-PCR
Maternal
Multiplex
Unknown
PAPPA-AS1,ASTN2-AS1,PAPPA,PAPPA-AS2,ASTN2
mitani_21_DD/ID_discovery_cases-caseBAB10738
ddPCR
De novo
Simplex
Segregated
ASTN2
peycheva_18_ID/EP_discovery_cases-case223
qPCR
Unknown
TRIM32,RPL10P3,SNORA70C,RN7SKP128,ASTN2,ASTN2-AS1
pinto_10_ASD_discovery_cases-case5316_3
Agilent1M
maternal
NA
NA
TRIM32,ASTN2
pinto_14_ASD_discovery_cases2-case14417_5260
qPCR
De novo
Simplex
(not tested)
LINC00474
pinto_14_ASD_discovery_cases2-case20115_1548001
qPCR
Paternal
Multiplex
Not segregated (no CNV in affected sibling)
ASTN2
prasad_12_ASD_discovery_cases-case128963
Unknown
Unknown
Unknown
ASTN2,TRIM32
prasad_12_ASD_discovery_cases-case154271L
Unknown
Unknown
Unknown
ASTN2,TRIM32
prasad_12_ASD_discovery_cases-case84657
Unknown
Unknown
Unknown
ASTN2
sanders_11_ASD_discovery_cases-11113.p1
Maternal
Simplex (trio)
NA
ASTN2
sanders_11_ASD_discovery_cases-12220.p1
Maternal
Simplex (quad-proband matched)
Segregated
ASTN2
sanders_11_ASD_discovery_cases-12332.p1
Paternal
Simplex (trio)
NA
ASTN2
sanders_11_ASD_discovery_cases-12492.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12561.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12676.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ASTN2
tammimies_15_ASD_discovery_cases-case3-0066-000
Maternal
Unknown
Unknown
TRIM32,ASTN2
walker_13_ASD_discovery_cases-case3-0115-000
Long-range PCR or qPCR
Maternal
Simplex
Segregated
walker_13_ASD_discovery_cases-case8-3055-004
Long-range PCR or qPCR
Unknown
Simplex
Unknown
yuen_17_ASD_discovery_cases-case1-0697-003
Not detected
Unknown
Simplex
Unknown
ASTN2
yuen_17_ASD_discovery_cases-case1-0811-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
TRIM32,ASTN2
yuen_17_ASD_discovery_cases-caseAU1894303
Not available
Paternal
Multiplex
Not segregated
TRIM32,ASTN2
yuen_17_ASD_discovery_cases-caseAU4259307
Not available
Unknown
Simplex
Unknown
ASTN2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0811-003
RT-qPCR or WGS
Unknown
TRIM32,ASTN2
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-1055-003
RT-qPCR or WGS
Unknown
PAPPA-AS1,TRIM32,ASTN2,ASTN2-AS1,PAPPA
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1755-003
RT-qPCR or WGS
Unknown
ASTN2
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20020
Unknown
ASTN2
bacchelli_20_ASD_discovery_controls-control20152
Unknown
TRIM32,ASTN2
engchuan_15_ASD_discovery_controls-controlB383984_1007874900
Unknown
ASTN2
engchuan_15_ASD_discovery_controls-controlHABC_900441_900441
Unknown
RPL35AP22,RNU6-1082P,TLR4
engchuan_15_ASD_discovery_controls-controlHABC_902519_902519
Unknown
krumm_15_ASD_discovery_controls-control12301.s1
Illumina 1MDuo
Maternal
DEC1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1696
qRT-PCR
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF11
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF12
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF13
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF14
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF15
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF16
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF17
Unknown
RPL10P3,SNORA70C,RN7SKP128,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CF23
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM1
Unknown
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM10
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM2
Unknown
TRIM32,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM20
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM21
Unknown
RPL10P3,SNORA70C,RN7SKP128,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM22
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM3
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM4
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM5
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM6
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM7
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM8
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CM9
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU18
Unknown
TRIM32,ASTN2,ASTN2-AS1
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU19
Unknown
ASTN2
lionel_13_ASD/ADHD/DD/ID_discovery_controls-CU24
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,BRINP1
poultney_13_ASD_discovery_controls-control04C29728A
Unknown
RPL10P3,SNORA70C,RN7SKP128,RN7SKP125,RPL35AP22,RNU6-1082P,TPT1P9,LINC02578,TUBB4BP6,TLR4,ASTN2,BRINP1
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
PAPPA-AS2,PAPPA-AS1,TRIM32,ASTN2,ASTN2-AS1,PAPPA
sanders_11_ASD_discovery_controls-12301.s1
Maternal
Simplex (quad)
NA
DEC1
sanders_11_ASD_discovery_controls-12492.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
ASTN2
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available