2p25.3CNV Type: Deletion-Duplication
Largest CNV size: 1200000 bp
Statistics Box:
Number of Reports: 45
Number of Reports: 45
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
De novo rates and selection of large copy number variation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism.
Duplication
Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.
Deletion-Duplication
High rate of disease-related copy number variations in childhood onset schizophrenia.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_cases
Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
126
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
N/A
N/A
245000
0
2
2
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
849652
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
92657
0
1
1
bouassida_23_ASD/DD/ID_discovery_cases
Previously unreported individuals with 2p25.3 microduplications involving the MYT1L gene recruited through a French national collaboration (n=15) and the DECIPHER database (n=1).
16
Six patients were referred for developmental delay (DD) and/or intellectual disability (ID), with four patients found to have autism spectrum disorder (ASD).
Range, 6 mos.-13 yrs. (mean, 7 yrs.).
43.75% Male
843340
0
16
16
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
4074
3
0
3
brand_15_ASD_discovery_cases
ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
259
Diagnosis of ASD
N/A
N/A
35355
0
2
2
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
1200000
1
0
1
coursimault_21_ASD/DD/ID_discovery_cases
Individual carrying a de novo 2p25.3 deletion included in a cohort of 40 newly published inidividuals with MYT1L variants gathered through data sharing resources including Genematcher, the French national AnDDi-Rares network and the GeneDx laboratory from France, Belgium, Luxembourg and the United States of America.
1
Case diagnosed with autism spectrum disorder (ASD) and presenting with developmental delay (ID) and moderate intellectual disability (ID).
30 yrs.
Female
354
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
634484
0
1
1
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases
Cohort consisting of 20 patients (13 sporadic patients and 7 familial cases from two families) with 2p25.3 CNVs
20
All cases with developmental delay/intellectual disability and speech delay; additional diagnoses of ASD and ADHD in a subset of these cases
Range, 3-57 yrs.
55.0% Male
3910000
10
6
16
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
443000
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
389056
3
4
7
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
304706
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
72516
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
677154
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
1127626
2
0
2
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
NA
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
474034
0
1
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
219852
0
1
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
53425
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3235952
6
6
12
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
149363
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
149363
0
1
1
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
82299
0
1
1
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
162365
0
1
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
1210247
0
2
2
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
109034
0
1
1
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
700000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
233358
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
188027
1
1
2
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1507904
0
1
1
meyer_11_ASD_discovery_cases
Autistic male half-siblings born to a common mother; this family was originally included in the Autism Genome Project CNV study (Szatmari et al., 2007).
2
Autism (diagnosis based on meeting criteria on both ADI-R and ADOS)
NA
100% Male
281000
0
2
2
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
106000
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
216000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
169000
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
540944
0
2
2
rio_12_DD_discovery_cases
Case is one of two monozygotic twin sisters referred for evaluation at age of 4 years for global developmental delay
1
Global developmental delay, obesity, and hyperactivity (monozygotic twin sister with ASD)
4 years
Female
2080000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
159847
1
0
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
0
0
0
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
38462
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
169720
8
4
12
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
4147306
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
185000
0
1
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
18550
0
2
2
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
8565
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
991000
0
0
0
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
111014
0
1
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
198261
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
2085999
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
264
1
0
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
1200000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
187848
1
6
7
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
itsara_10_ASD_discovery_controls_1
Unaffected siblings of ASD probands from multiplex (n=368) and simplex (n=59) families from AGRE collection
427
Controls: Unaffected or Not Met
53425
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
84994
1
3
4
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
93938
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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
0
0
0
0
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
1210247
0
1
1
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
700000
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
171333
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
59837
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
540944
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.
164501
6
3
9
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
991000
0
1
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
111014
0
0
0
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
Validation based on familial presence of CNV
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
bouassida_23_ASD/DD/ID_discovery_cases
France, United Kingdom
aCGH, solid phase hybridization
Agilent CGH 180K, Agilent 60K, Illumina OmniExpress, 180K oligoarray
NA
NA
FISH or qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
brand_15_ASD_discovery_cases
N/A
Long-insert WGS
Long-insert whole genome sequencing
LUMPY, cn.MOPS, SV classifier
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
coursimault_21_ASD/DD/ID_discovery_cases
NA
WES, WGS
NA
NA
NA
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases
N/A
aCGH, array SNP, MLPA
Agilent 180K, P070 MRC Holland, 250K SNP array
arrayCGHbase
qPCR, FISH, aCGH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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_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
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
meyer_11_ASD_discovery_cases
NA
Array SNP
Affymetrix 10K SNP microarray
dCHIP 2006
FISH, array SNP (Affymetrix 6.0)
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rio_12_DD_discovery_cases
France
aCGH
BlueGnome CytoChips and Agilent 244K
ADM-2
BlueFuse; Agilent Feature Extraction 9.1.3, CGH Analytics 3.3.1
FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
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)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
itsara_10_ASD_discovery_controls_1
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
larson_17_ASD_discovery_controls
N/A
N/A
N/A
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_16_ASD_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahn_13_SCZ_discovery_cases-NSB_ID1358
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
1608285
1853596
245312
GRCh38
Duplication
Yes
ahn_13_SCZ_discovery_cases-NSB_ID534
N/A
N/A
Schizophrenia
Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
IQ 70
1737354
1844538
107185
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case177
5.08 yrs.
M
ASD and developmental delay
Autism, impaired language development, poor social communication skills, temper tantrums, aggressive behaviour, sleeping problems. Family history: cousin has autism. Growth parameters: height 1.05 m, weight 15 kg, head circumference 49 cm. Family history: no data on familial consanguinity.
543548
1393199
849652
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_cases-caseAB86
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
886378
979034
92657
GRCh38
Duplication
No
bouassida_23_ASD/DD/ID_discovery_cases-caseD1
1 yrs.
M
MCA
Case deposited in DECIPHER (DECIPHER ID 371078). Motor and musculoskeletal evaluation: bilateral 2-3 toe syndactyly. Brain imaging: agenesis of the corpus callosum. Dysmorphic features: turricephaly. Family history: duplication inherited from an asymptomatic father.
2246711
2325314
78604
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN1
7 yrs.
F
Developmental delay and intellectual disability
Case deposited in ClinVar (ClinVar ID SCV002818537). Developmental milestones: developmental delay. Family history: duplication inherited from an asymptomatic father.
Intellectual disability
1901270
2212703
311434
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN10
13 yrs.
F
Case deposited in DECIPHER (DECIPHER ID 504028). Growth parameters: growth delay. Family history: twin with similar phenotype.
1838298
2305268
466971
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN11
Fetus
F
Case deposited in DECIPHER (DECIPHER ID 504031). Prenatal history: 1st trimester maternal serum markers.
1155467
1998806
843340
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN12
2 yrs.
M
ASD, SPD, and developmental delay
Case deposited in DECIPHER (DECIPHER ID 503985). Developmental milestones: sitting up at 10 months, walking at 16 months, language delay. Behavioral/psychiatric evaluation: autism spectrum disorder, sensory processing disorder (SPD).
1947085
2280311
333227
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN13
7 yrs.
F
ASD and developmental delay
Case deposited in DECIPHER (DECIPHER ID 503986). Developmental milestones: speech delay. Behavioral/psychiatric evaluation: autism spectrum disorder. Brain imaging: cystic dilatation of the Virchow-Robin spaces. Family history: duplication inherited from a father with no clinical details.
1615348
1851945
236598
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN14
3 yrs.
M
ASD
Case deposited in DECIPHER (DECIPHER ID 503987). Prenatal history: intrauterine growth retardation, fetal alcohol exposure. Behavioral/psychiatric evaluation: autism spectrum disorder. Brain imaging: T2/FLAIR subcortical white matter hyperintensities.
1738270
1839002
100733
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN15
Fetus
F
Case deposited in DECIPHER (DECIPHER ID 504029). Prenatal history: increased nuchal translucency (3.5 mm).
1315154
2088938
773785
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN2
3 yrs.
F
Developmental delay and intellectual disability
Case deposited in ClinVar (ClinVar ID SCV002818538). Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: hypotonia. Brain imaging: agenesis of the corpus callosum. Additional medical history: congenital heart defect (CHD), asplenia.
Intellectual disability
2194905
2334561
139657
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN3
6 mos.
F
Developmental delay
Case deposited in ClinVar (ClinVar ID SCV002818539). Developmental milestones: developmental delay. Brain imaging: cerebral lesion caused by fetal viral infection. Growth parameters: microcephaly.
1738468
1844354
105887
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN4
5 yrs.
M
ASD and intellectual disability
Case deposited in ClinVar (ClinVar ID SCV002818540). Behavioral/psychiatric evaluation: autism spectrum disorder.
Intellectual disability
1614808
1852777
237970
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN5
6 yrs.
M
Intellectual disability
Case deposited in ClinVar (ClinVar ID SCV002818541). Brain imaging: septum pellucidum cyst. Dysmorphic features: yes. Growth parameters: macrocephaly.
Intellectual disability
1738468
1844354
105887
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN6
7 yrs.
M
Developmental delay
Case deposited in DECIPHER (DECIPHER ID 394720). Developmental milestones: speech delay. Behavioral/psychiatric evaluation: anxiety disorder. Dysmorphic features: long face, relatively short forehead, arched eyebrows, synophrys, epicanthus, downslanting palpebral fissures, anteverted nostrils, long philtrum, thick lips, ogival palate, bifid uvula, long fingers, low posterior hairline. Growth parameters: obesity. Family history: duplication inherited from an asymptomatic father.
1614100
1853455
239356
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN7
13 yrs.
M
MCA
Case deposited in DECIPHER (DECIPHER ID 503996). Dysmorphic features: congenital malformations of the feet and hands.
1496543
2321842
825300
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN8
5 yrs.
F
Developmental delay and intellectual disability
Case deposited in DECIPHER (DECIPHER ID 384336). Developmental milestones: sitting up at 10 months, walking at 19 months, language delay. Behavioral/psychiatric evaluation: attention deficit. Dysmorphic features: long face, high frontal hairline, telecanthus, broad base and flattened tip of the nose, anteverted nostrils, short philtrum, thick upper lip, dysplastic ears, downslanting palpebral fissures, small and square hands, marked fetal pads. Growth parameters: macrocephaly, obesity. Family history: duplication inherited from an asymptomatic mother.
Intellectual disability
2040855
2378531
337677
GRCh38
Duplication
Yes
bouassida_23_ASD/DD/ID_discovery_cases-caseN9
13 yrs.
F
Case deposited in DECIPHER (DECIPHER ID 504026). Growth parameters: growth delay. Family history: twin with similar phenotype.
1838298
2305267
466970
GRCh38
Duplication
Yes
brandler_18_ASD_replication_cases-caseAU4015301
N/A
F
ASD
Case from MSSNG cohort
1865724
1869797
4074
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4015302
N/A
M
ASD
Case from MSSNG cohort
1865724
1869797
4074
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC06132
N/A
F
ASD
Case from SSC_phase2 cohort
2327628
2327891
264
GRCh38
Deletion
No
brand_15_ASD_discovery_cases-case18
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 2 in this case. Duplication previously identified by aCGH (chr2:147910-174272; hg19).
138821
174176
35356
GRCh38
Duplication
No
brand_15_ASD_discovery_cases-case18
N/A
N/A
ASD
Long-insert WGS identified a dupINVdup involving chromosome 2 in this case. Duplication not previously identified by aCGH.
187806
192271
4466
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU038503
NA
F
ASD
NA
NA
54074
1203224
1149151
GRCh38
Deletion
Yes
coursimault_21_ASD/DD/ID_discovery_cases-case38
30 yrs.
F
ASD, developmental delay, and intellectual disability
Developmental milestones: motor delay, language delay. Motor and musculoskeletal evaluation: brachydactyly, short thumbs. Behavioral/psychiatric evaluation: behavioral disorders (a formal or informal diagnosis of ASD, self- or hetero-aggressive behavior, psychoses), eating behavior disorder (hyperphagia). Dysmorphic features: long face, large forehead, upslanted palpebral fissures, mild facial asymmetry, malar hypoplasia, full lips, slightly downturned corners of the mouth, single palmar crease. Growth parameters: obesity.
Moderate intellectual disability
1942981
1943334
354
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case212
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
1626542
2261025
634484
GRCh38
Duplication
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient1
13 yrs.
F
Intellectual disability
Birth/neonatal history: born as second child of a twin after pregnancy duration of 32 weeks; birth otherwise uncomplicated; possible asphyxia; birth weight of 1650 g; respiratory syncytial virus infection complicated by septic shock at age of 3 months. Developmental milestones: walking at 2 years, first words ar 3 years. Language and communication evaluation: able to speak, unable to read or write. Behavioral/psychiatric evaluation: normal behavior. Dysmorphic features: full round face, low insertion of the columella, broad nasal tip, short philtrum, small hands. Growth parameters: height of 159.5 cm (50th %ile), weight of 89.6 kg (>97th %ile), BMI of 35.2 kg/m2, head circumference of 57 cm (>97th %ile). Family history: healthy twin brother.
Severe intellectual disability (IQ score of 40-45 at age of 13 years)
10001
3010332
3000332
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient10
32 yrs.
F
Developmental delay and autistic behavior
Birth/neonatal history: born after normal pregnancy and delivery; exact birth figures N/A. Developmental milestones: developmental delay noted from age of 6 months (poor eye contact and hypertonia); delayed language and motor development; could walk independently at age of 3 years. Behavioral/psychiatric evaluation: behavioral problems categorized as "limitations in adaptation of emotions and behavior" fitting autism spectrum disorders, for which she received psychiatric medication (pipamperon) from age of 10 years; sleep disturbances (received sleep medication). Growth parameters: normal weight until age of 12 months, followed by gradual increase; height of 160.5 cm (50th %ile) and weight of 80 kg (97th %ile) at age of 14 years; weight increased to 98 kg in her twenties; disciplinary diet decreased weight to 87 kg at time of last examination (age of 32 years).
1872363
1993901
121539
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient11
7 yrs.
M
Intellectual disability
Birth/neonatal history: born at 40 weeks + 5; birth weight of 3400 g, length of 53 cm, OFC of 34/32 cm. Developmental milestones: crawled at 8 months of age, sat with support at age of 1 year, walked alone at 22 months. Language and communication evaluation: language delay. Motor and musculoskeletal evaluation: hypermobility; likely to have slight foot clonus. Behavioral/psychiatric evaluation: case diagnosed with infantile autism, but has some attitudes that do not fit into classical diagnosis of autism (very empathic, good at reading faces and sounds); unable to cope with angry people, very sensitive to sound; tendency to squeeze right eye or close with his hand while reading. Brain imaging: normal brain MRI at age of 4 years 7 months. Dysmorphic features: slight strabismus. Growth parameters: height of 120 cm (25th %ile) and weight of 25 kg (75th %ile) at age of 7 years 6 months.
Possible intellectual disability (difficult to evaluate due to language delay(
1892659
2059082
166424
GRCh38
Duplication
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient12
26 yrs.
F
Developmental delay/intellectual disability
Birth/neonatal history: uncomplicated pregnancy; proband born at term with normal birth weight; no early feeding difficulties, although parents reported an absent sense of satiation; operation at age of 9 months for inguinal hernia. Developmental milestones: walking achieved at age of 2 years; delayed speech with first words appearing at about 2 years of age. Language and communication evaluation: speech limited to single words and rare simple phrases. Behavioral/psychiatric evaluation: formal evaluation at age of 1.5 years revealed autistic features; excessive appetite resulted in marked central obesity; significant behavioral regression at age of 15 years with development of aggressive and self-injurious behaviors, resistant to neuroleptics; sleep problems that significantly improved after introduction of melatonin treatment. Epilepsy/seizures: tonic-clonic seizures at age of 33 years. Brain imaging: cerebral MRI revealed lesion compatible with diagnosis of glioma (low-grade astrocytoma). Dysmorphic features: strabismus, thick lips with everted lower lip, high arched palate, relatively small hands, genu valgum deformity at lower limbs. Growth parameters: weight of 110 kg (>90th %ile), height of 153 cm (3rd-10th %ile), and OFC of 56 cm (75th %ile) at age of 26 years.
1941221
2282221
341001
GRCh38
Duplication
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient13
3 yrs.
M
Developmental delay and ADHD
Birth/neonatal history: normal pregnancy; delivery provoked after 38 weeks of gestation; birth weight of 2750 g (3rd-10th %ile), birth length of 46.5 cm (3rd %ile), and OFC of 32 cm (3rd %ile); Apgar of 10/10; neonatal perioud without concern; progressive microcephaly noticed. Developmental milestones: delayed psychomotor acquisitions (walking acquired at age of 21 months); delayed speech (only 3 words at age of 3 years 9 months); not toilet trained. Language and communication evaluation: only 3 words at current age; unable to repeat simple words. Motor and musculoskeletal evaluation: instable walk, frequent swallowing. Behavioral/psychiatric evaluation: behavioral troubles with attention deficit, impulsivity further diangosed as ADHD; aggressiveness; sleep disorders. Brain imaging: normal brain MRI. Vision and hearing: normal ophtalmological and auditory examination. Dysmorphic features: microcephaly, epicanthus, projected philtrum, thick and everted lower lip, full cheeks, laterally rare eyebrows, micrognathia, 5th finger clinodactyly. Growth parameters: height of 96 cm (10th %ile), weight of 12.5 kg (3rd %ile), and OFC of 45.5 cm (<3rd %ile) at age of 3 years 9 months. Family history: first child of healthy non-consanguineous parents; healthy brother.
Scholarship not started due to behavioral difficulties
2163871
2534368
370498
GRCh38
Duplication
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient2
50 yrs.
F
Developmental delay/intellectual disability
Birth/neonatal history: born after uncomplicated pregnancy at 40 weeks of gestation; birth weight of 3500 ; no history of hypotonia or feeding problems. Developmental milestones: slow development; normal education not possible. Langauge and communication evaluation: able to only speak a few words. Behavioral/psychiatric evaluation: showed aggressive and destructive behavior during childhood; repeated handwringing. Dysmorphic features: upslanting palpebral fissures, low frontal hairline, high nasal bridge, broad mouth, full lips. Growth parameters: childhood obesity; height of 160 cm (10th-25th %ile), weight of 81 kg (>90th %ile), and head circumference of 61 cm (>97th %ile) at adulthood.
Developmental delay/intellectual disability
17019
2688802
2671784
GRCh38
Deletion
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient20
Adult
M
Intellectual disability
Language and communication evaluation: speech impairment. Behavioral/psychiatric evaluation: hyperactivity; mood disorder with aggressive behavior. Dysmorphic features: coarse facial features. Growth parameters: central obesity; height of 173 cm (10th-25th %ile), weight of 90kg (90th-97th %ile), head circumference of 57.5 cm (50th-75th %ile). Family history: two similarly affected offspring that also carry 2p25.3 duplication.
Moderate intellectual disability
284551
2165481
1880931
GRCh38
Duplication
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient21
10 yrs.
M
Intellectual disability
Language and communication evaluation: speech impairment. Motor and musculoskeletal evaluation: pectus excavatum. Behavioral/psychiatric evaluation: hyperactivity; mood disorder with aggressive behavior. Dysmorphic features: macroglossia. Growth parameters: overweight; height of 145 cm (50th-75th %ile), weight of 45 kg (>90th %ile), head circumference of 54 cm (50th %ile). Family history: similarly affected sibling and father that also carry 2p25.3 duplication.
Moderate intellectual disability
284549
2165481
1880933
GRCh38
Duplication
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient22
6 yrs.
F
Intellectual disability
Language and communication evaluation: speech impairment. Motor and musculoskeletal evaluation: hyperlaxity. Behavioral/psychiatric evaluation: hyperactivity; mood disorder with aggressive behavior. Additional medical history: inguinal hernia. Growth parameters: overweight; height of 120 cm (50th-75th %ile), weight of 22 kg (75th %ile), head circumference of 49.5 cm (3rd %ile). Family history: similarly affected sibling and father that also carry 2p25.3 duplication.
Moderate intellectual disability
284550
2165481
1880932
GRCh38
Duplication
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient3
13 yrs.
F
ASD and learning disabilities
Case diagnosed with autism (diagnostic tools N/A). Birth/neonatal history: born at 40 + 10 days gestation; birth weight of 3860 g (90th %ile). Developmental milestones: walked at 17 months; delayed speech development. Langauge and communication evaluation: reading and writing at pre-school level. Beahvioral/psychiatric evaluation: case originally referred for assessment at age of 7 years due to deterioration of behavior and aggression; hand stereotypies. Epilepsy/seizures: none. Dysmorphic features: none. Growth parameters: obesisty apparent at age of 7 years (weight 10 kg above 99.6th %ile; OFC +3 SD at this age); at age of 13 years, case is still obese (BMI of 35.3 kg/m2); height of 161.9 cm (75th %ile) and weight of 92.6 kg (17 kg > 99.6th %ile) at age of 13 years.
Investigated for moderate-to-severe learning disability; attends special school.
17049
2656110
2639062
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient4
11 yrs.
F
ASD and ADHD
Case diagnosed with autism and ADHD (diagnostic tools N/A). Birth/neonatal history: born at 40 + 7 weeks; birth weight of 3970 g (93rd %ile). Developmental milestones: did not sit unsupported until 9 months; did not walk until 18 months; delayed speech development. Language and communication evaluation: receives speech and langauge therapy; able to hold a conservation; language and communication abilities equivalent to those of an average 6-year-old. Behavioral/psychiatric evaluation: prescribed melatonin due to sleep disturbances (difficulty getting to sleep, waking after 4-5 hours). Epilepsy/seizures: developed absence seizures at age of 5 years; treated with ethosuxemide and sodium valproate; recently case started refusing medication and her seizures have not recurred. Dysmorphic features: none. Growth parameters: height in 25th %ile and weight in 50th %ile at age of 11 years.
20807
2305238
2284432
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient5
16 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: started walking at age of 2 years. Language and communication evaluation: does not really speak. Motor and musculoskeletal evaluation: psychomotoric impairment; extension of elbows limited to 170 degrees. Behavioal/psychiatric evaluation: laughs a lot, generally a happy boy; otherwise normal behavior. Additional medical history: developing cataract detected in right eye at age of 8 years; hiatal hernia; mild gastroesophageal reflux; systolic hear murmurs; takes antipsychotic and antiepileptic drugs. Dysmorphic features: small palpebral fissures, microorchidism. Growth parameters: short stature; height of 156 cm (<3rd %ile), weight of 70 kg (75th %ile), head circumference of 57 cm (90th %ile). Family history: three healthy siblings (one sister, two brothers).
Developmental delay/intellectual disability
234263
4101483
3867221
GRCh38
Deletion
Yes
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient6
4 yrs.
F
Developmental delay and autistic behavior
Birth/neonatal history: born after uneventful pregnancy. Developmental milestones: delayed neuromotor development; sitting at 13 months, independent gait at 3 years of age. Langauge and communication evaluation: no active speech at 4 years of age; minimal understanding of simple words. Motor and musculoskeletal evaluation: intermittent but sometimes pronounced toe-walking. Beahvioral/psychiatric evaluation: some autistic behavior. Brain imaging: brain MRI at 15 months showed mild bilateral T2 hyperintensities in parietooccipital white matter, which could be due to delayed myelination. Dysmorphic features: mild strabismus. Growth parameters: height of 101 cm (25th %ile), weight of 16.2 kg (30th %ile), and head circumference of 48.7 cm (25th %ile). Family history: born to healthy, non-consanguineous parents.
1592725
2616780
1024056
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient7
4 yrs.
M
Intellectual disability and ADHD
Diagnosis of ADHD (diagnostic tools N/A). Birth/neonatal history: pregnancy characterized by threat of abortion during 1st quarter; continued without particular problems; normal ultrasound monitoring; born by natural delivery at 40 weeks of gestation; birth weight of 3300 g, length of 52 cm (OFC N/A); hypotonia detected at birth. Developmental milestones: delayed psychomotor development; sitting at 11 months of age, walked independently at 30 months of age; speech delay. Language and communication evaluation: says only a few words. Behavioral/psychiatric evaluation: stereotypic hand movements from age of 6-7 months. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: sloping forehead, mild deep-set eyes, hyperplastic ear lobes, large ears, broad nasal bridge, short philtrum. Growth paramters: weight of 22.1 kg (95th %ile), height of 108.8 cm (90th %ile), and OFC of 51.5 cm (75th %ile). Family history: first of two siblings born to unrelated and healthy parents.
Intellectual disability; IQ of 53, verbal IQ 65, performance IQ 50
1738221
3391222
1653002
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient8
13 yrs.
M
Intellectual disability
Birth/neonatal history: born at term after normal pregnancy; birth weight of 2870 g. Developmental milestones: delayed development, especially in speech and language; mildly delayed motor development (independent walking at 20 months). Behavioral/psychiatric evaluation: severe mood disturbances (treated with psychiatric medication (aripiprazol) from age of 7 years. Brain imaging: normal brain MRI at age of 7 years. Dysmorphic features: broad nasal bridge, anteverted nares, simple ear helices, short fingers. Growth parameters: height of 162 cm (50th %ile), weight of 59 kg (>75th %ile), and OFC of 53.5 cm (25th %ile) at age of 13 years.
Intellectual disability; discrepancy in IQ measurements (verbal IQ 70 and performance IQ 58 at age of 7 years)
1739180
2491960
752781
GRCh38
Deletion
No
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient9
4 yrs.
M
Developmental delay
Birth/neonatal history: normal uncomplicated pregnancy (no exposure to medications, drugs, ethanol, or cigarettes; no infections); delivered by spontaneous vaginal vertex delivery at 38 weeks of gestation; no newborn complications. Developmental milestones: delayed gross motor milestones (sitting at 10 months, walking at 18 months); no words until 2.5 years of age. Language and communication evaluation: currently has several words, but is only understood by his family. Behavioral/psychiatric evaluation: normal behavior. Dysmorphic features: very round face, horizontal palpebral fissures, strabismus, thin upper and lower vermillion borders, flatish philtrum, large and fleshy lobules, single palmar crease on left, bridge palmar crease on right. Growth parameters: weight of 27 kg (>97th %ile), height of 111.4 cm (97th %ile), and head circumference of 53.5 cm (>98th %ile). Family history: born to non-consanguineous parents; had a normal healthy male fraternal twin and healthy older brother; non-contributory 3-generation family history.
Developmental delay
1773513
2656110
882598
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300118
N/A
F
Developmental delay/intellectual disability
708239
1155527
447289
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14103_1780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
416815
805863
389049
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3085_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18856
193991
175136
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3430_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99525
181748
82224
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3492_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1156748
1326991
170244
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104979
212106
107128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130357
266895
136539
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8437_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
238975
301784
62810
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0036541
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
1237888
1542593
304706
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000025
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S31
N/A
1601264
1673780
72517
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1307302
Autism
333588
1010741
677154
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU038503
Autism
19443
1147068
1127626
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU038504
Autism
19443
1147068
1127626
Unknown
Deletion
No
gannon_11_ASD/DD_discovery_cases-patientC
ASD and/or DD
Dysmorphic features: unknown
IQ unknown
NA
NA
NA
Unknown
Duplication
No
girirajan_13b_ASD_discovery_cases-28506106267
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
1665007
2139041
474035
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case263
7 yrs.
F
ASD
Diagnosis of ASD
1631887
1851738
219852
GRCh38
Duplication
Yes
itsara_10_ASD_discovery_cases-HI4500
NA
NA
Autism
NA
NA
153279
206704
53426
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001165
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30341
429942
399602
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30341
507042
476702
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001775
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
859250
1128993
269744
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001948
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50661
3293835
3243175
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001984
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3293776
3858635
564860
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002008
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50661
140943
90283
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002804
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1110952
1699889
588938
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003766
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1159921
1491401
331481
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004342
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2542162
3678127
1135966
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004923
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
694400
1433587
739188
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005019
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30341
943088
912748
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005391
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30341
206274
175934
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12837.p1
N/A
M
ASD
ASD proband from SSC quad family 12837. SRS score of 86.
Full-scale IQ (FSIQ) score of 89.
1393111
1542474
149364
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12837.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1393111
1542474
149364
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0882
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
1990304
2072602
82299
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1067
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
2136692
2299056
162365
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case43
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
1738090
1851585
113496
GRCh38
Duplication
No
larson_17_ASD_discovery_cases-case5
N/A
M
ASD and psychosis
Male, normal range IQ, psychosis onset early teens, diagnosis of psychosis NOS, no family history of mental health problems. CNV not reported in DGV.
IQ with normal range
394200
1600675
1206476
GRCh38
Duplication
No
leite_22_DD/ID_discovery_cases-case078
8 mos.
M
Developmental delay
Global developmental delay, multiple congenital anomalies
1738054
1847087
109034
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1307302
N/A
M
ASD
344000
1032314
688315
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11335.p1
NA
F
ASD
NA
NA
622647
860318
237672
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
4166274
4176429
10156
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
9 yrs.
M
ASD
Diagnosis of ASD at 6 years of age by child psychologist (assessment tools N/A). Birth/neonatal history: born vaginally at 35 weeks gestation; treated for respiratory distress in hospital for nine days following delivery; coarctation of aorta and bicuspid aortic valve noted on echocardiography at 18 days of life (end-to-end anastomosis procedure at 1 month followed by coarctation repair with patch annulopasty at four months, post-treatment echocardiograms normal). Developmental milestones: mild global developmental delay (walking at 16 months, speech emergence at 15-16 months); speaking in two-word sentences by age of three years. Behavioral/psychiatric evaluation: difficulties with socialization and repetitive behaviors (throat clearing and tics). Dysmorphic features: none reported. Family history: case is third of four children of non-consanguineous parents; one sister with anxiety, another sister with speech delay and hyperactivity, and a third sister with head-banging behaviors (none of these siblings carry the paternally-inherited 14q23.3/GPHN deletion); maternal half-brother with bipolar disorder; mother diagnosed with depression and anxiety, noted to have speech difficulties in school; individuals with additional psychological concerns in maternal extended family; father is apparently healthy with normal intelligence but has some challenges with socialization; significant psychiatric illness in paternal extended family.
Academic difficulties requiring modified program in preschool and kindergarten (graduated from program by 9 years of age, received no additional special education).
888150
1076176
188027
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case233
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
282735
1790638
1507904
GRCh38
Duplication
No
meyer_11_ASD_discovery_cases-patientR1812
NA
M
Autism
ADI-R and ADOS scores well above the cut-off criteria for autism. Nonverbal. Vineland test of adaptive functioning (age 16 yrs.): severe delays with age equivalent scores in both daily living and communication domains of ~2.5 years. Family history: half-brother with autism; mother (who is somatic mosaic for 2p25.3 duplication) with performance IQ of 109 and self-reported problems with spelling, but normal language & reading abilities as a child.
1570221
1855221
285001
GRCh38
Duplication
Yes
meyer_11_ASD_discovery_cases-patientR1813
NA
M
Autism
ADI-R: well above the cut-off criteria for autism. ADOS: met criteria in all domains for autism with the exception of the communication domain. Verbal with no clinically significant language delay. Exhibits stereotypic autistic language (echolalia, neologisms, & pragmatic language problems). Family history: half-brother with autism; mother (who is somatic mosaic for 2p25.3 duplication) with performance IQ of 109 and self-reported problems with spelling, but normal language & reading abilities as a child.
IQ of 118 (Ravens Matrices)
1570221
1855221
285001
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case5
N/A
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: none reported.
Intellectual disability
1738469
1844354
105886
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case2901
NA
ASD
NA
NA
412000
628000
216000
Unknown
Duplication
No
nava_13_ASD_discovery_cases-Fam1178Proband10801
N/A
M
ASD
Additional clinical profile info N/A
No ID
3169253
3338238
168986
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
305022
845965
540944
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseMM1110-003S
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1126705
1425831
299127
Unknown
Duplication
No
rio_12_DD_discovery_cases-case1
4 yrs.
F
Developmental delay
Patient referred at 4 years of age for evaluation for global developmental delay. Birth/neonatal history: birth weight <5th %ile, birth length 10th %ile, birth head circumference 50th %ile; history of neonatal strabismus and hypotonia without feeding problems. Developmental milestones: walking at 35 months; delays in fine motor and language skill; cognitive delay. Language and communication evaluation: no speech, but has receptive language skills and can communicate non-verbally. Behavioral/psychiatric evaluation: hyperactivity, hand flapping, happy disposition with frequent smiling and outbursts of laughter. Brain imaging: normal brain MRI. Other features: drooling, pyramidal syndrome of the lower limbs. Dysmorphic features: minor dysmorphisms (short palpebral fissures, long columella, relatively wide mouth, pointed chin). Growth parameters: height, 94 cm (-1.5 SD); weight, 17 kg (+1 SD); head circumference, 48 cm (-2 SD). Family history: monozygotic twin sister with ASD shows mosiacism with 1/3 of cells with a 2p25.3 deletion, 1/3 of cells with a 2p25.3 duplication, and 1/3 or normal cells; healthy non-consanguineous parents.
Developmental delay/cognitive delay
517774
2602442
2084669
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case26164
NA
NA
ASD
NA
NA
74468
234315
159847
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1407-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
884386
922847
38462
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11264.p1
10.7
F
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 88; verbal IQ 80
3831980
3881147
49168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
4267449
4271386
3938
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
1422574
1516904
94331
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
3226034
3234904
8871
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
4267449
4271386
3938
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
1453056
1458350
5295
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
3226034
3234904
8871
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
4267449
4271386
3938
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
137962
174272
36311
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12645.p1
4.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
4269043
4271386
2344
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
1371618
1541338
169721
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
88276
190245
101970
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD. Case also presented with developmental delay, hypotonia, and hearing loss.
39192
4186497
4147306
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case30
13 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
1784717
1969402
184686
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR043-F6-01C06146
NA
ASD
NA
NA
1751161
1769711
18551
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR043-F7-01C06147
NA
ASD
NA
NA
1751161
1769711
18551
GRCh38
Duplication
Yes
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
4165788
4174353
8566
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case52
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
263073
374086
111014
GRCh38
Duplication
No
yuen_16_ASD_discovery_cases-sample2-1343-003
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
1161402
1351577
190176
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1343-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: born prematurely at 33 weeks gestation; had epilepsy as a child, but seizure-free for 5-6 years; anxiety disorder; ADHD; developmental delay; skin trouble - adult acne, allergic to lotions, soaps
10001
2082228
2072228
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
brandler_18_ASD_replication_controls-controlSSC06145
N/A
M
control
Control from SSC_phase2 cohort
2327628
2327891
264
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326195_1007874649
N/A
N/A
Control
No previous psychiatric history
301784
348470
46687
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB559623_1007853786
N/A
N/A
Control
No previous psychiatric history
24445
88276
63832
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB881400_1007872288
N/A
N/A
Control
No previous psychiatric history
24445
107140
82696
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
N/A
N/A
Control
No previous psychiatric history
18856
206704
187849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
N/A
N/A
Control
No previous psychiatric history
24445
88276
63832
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902620_902620
N/A
N/A
Control
No previous psychiatric history
100190
147910
47721
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
N/A
N/A
Control
No previous psychiatric history
89910
200354
110445
GRCh38
Duplication
No
itsara_10_ASD_discovery_controls_1-HI4476
NA
NA
Not Met
NA
NA
153279
206704
53426
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split1501
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
104979
189972
84994
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1800
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
4191699
4222144
30446
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split425
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
104979
189972
84994
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split715
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
104979
189972
84994
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12733.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12733. SRS score of 45.
1423044
1516982
93939
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13296.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13296. SRS score of 40.
1433437
1476071
42635
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU1307301
N/A
F
Control
Unaffected sibling
344000
1032314
688315
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11447.s1
NA
F
Control
NA
NA
74252
245584
171333
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44168
N/A
F
Control
NIMH Control (NIMH ID 64500)
1791867
1851703
59837
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
1067818
1088309
20492
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11167.s1
7.3
M
Control (matched sibling)
NA
NA
4267449
4271386
3938
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
79003
243504
164502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
3226034
3234904
8871
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
3226034
3239467
13434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
3226034
3239467
13434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
1023263
1025055
1793
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
88276
188873
100598
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
1422574
1516904
94331
GRCh38
Duplication
No
wang_10_ASD_discovery_controls-Aut26
28
M
Control
NA
NA
850461
1844538
994078
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID1358
Validation based on familial presence of CNV
Maternal
Unknown
Unknown
PXDN,MYT1L
ahn_13_SCZ_discovery_cases-NSB_ID534
Unknown
Unknown
Unknown
PXDN,MYT1L
akter_23_ASD/ADHD/DD/ID_discovery_cases-case177
Unknown
SNTG2,TMEM18,LINC01115,SNTG2-AS1,LINC01875,LINC01939,TMEM18-DT,TPO
bacchelli_20_ASD_discovery_cases-caseAB86
Paternal
Simplex
LINC01939,SNTG2-AS1,SNTG2
bouassida_23_ASD/DD/ID_discovery_cases-caseD1
FISH or qPCR
Paternal
MYT1L-AS1,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN1
FISH or qPCR
Paternal
MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN10
FISH or qPCR
Unknown
Multiplex
MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN11
FISH or qPCR
Unknown
SNTG2,TPO,PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN12
FISH or qPCR
De novo
MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN13
FISH or qPCR
Paternal
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN14
FISH or qPCR
Unknown
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN15
FISH or qPCR
Unknown
SNTG2,TPO,PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN2
FISH or qPCR
Unknown
MYT1L-AS1,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN3
FISH or qPCR
Unknown
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN4
FISH or qPCR
Unknown
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN5
FISH or qPCR
Unknown
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN6
FISH or qPCR
Paternal
PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN7
FISH or qPCR
Unknown
MYT1L-AS1,TPO,PXDN,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN8
FISH or qPCR
Maternal
MYT1L-AS1,MYT1L
bouassida_23_ASD/DD/ID_discovery_cases-caseN9
FISH or qPCR
Unknown
Multiplex
MYT1L
brandler_18_ASD_replication_cases-caseAU4015301
No validation step reported
Paternal
MYT1L
brandler_18_ASD_replication_cases-caseAU4015302
No validation step reported
Paternal
MYT1L
brandler_18_ASD_replication_cases-caseSSC06132
No validation step reported
Paternal
MYT1L
brand_15_ASD_discovery_cases-case18
Maternal
Simplex
Unknown
brand_15_ASD_discovery_cases-case18
Maternal
Simplex
Unknown
christian_08_ASD_discovery_cases-AU038503
FISH
inherited
Multiplex
NA
ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,SH3YL1,SNTG2
coursimault_21_ASD/DD/ID_discovery_cases-case38
De novo
MYT1L
cucinotta_23_ASD_discovery_cases-case212
Paternal
PXDN,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient1
De novo
Simplex
Segregated
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,MYT1L-AS1,SH3YL1,TPO,PXDN,LINC01250,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient10
Unknown
Simplex
Unknown
MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient11
De novo
Simplex
Segregated
MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient12
De novo
Simplex
Segregated
MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient13
qPCR
De novo
Simplex
Segregated
MYT1L-AS1,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient2
aCGH
De novo
Simplex
Segregated
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,MYT1L-AS1,SH3YL1,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient20
qPCR
De novo
Multi-generational
Segregated
ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient21
qPCR
Paternal
Multi-generational
Segregated
ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient22
qPCR
Paternal
Multi-generational
Segregated
ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient3
De novo
Simplex
Segregated
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,MYT1L-AS1,SH3YL1,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient4
Unknown (not maternal)
Simplex
Unknown
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,SH3YL1,TPO,PXDN,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient5
FISH
Unknown
Simplex
Unknown
ACP1,ALKAL2,LINC01875,LINC01115,EIPR1-IT1,TRAPPC12-AS1,RNASEH1-AS1,RPS7,TMSB4XP2,GAPDHP48,LINC01865,LINC01874,TMEM18,LINC01939,MYT1L-AS1,ADI1,RNASEH1,COLEC11,LINC01304,SH3YL1,TPO,PXDN,LINC01250,EIPR1,TRAPPC12,ALLC,DCDC2C,SNTG2,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient6
De novo
Simplex
Segregated
MYT1L-AS1,PXDN,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient7
De novo
Simplex
Segregated
EIPR1-IT1,MYT1L-AS1,PXDN,LINC01250,EIPR1,TRAPPC12,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient8
De novo
Simplex
Segregated
MYT1L-AS1,PXDN,MYT1L
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient9
FISH
De novo
Simplex
Segregated
MYT1L-AS1,MYT1L
digregorio_17_DD/ID_discovery_cases-DECIPHER_300118
Paternal
LINC01115,LINC01939,SNTG2
engchuan_15_ASD_discovery_cases-case14103_1780
Unknown
LINC01875,LINC01115,LINC01874,TMEM18
engchuan_15_ASD_discovery_cases-case3085_3
Unknown
FAM110C
engchuan_15_ASD_discovery_cases-case3430_3
Unknown
engchuan_15_ASD_discovery_cases-case3492_3
Unknown
SNTG2
engchuan_15_ASD_discovery_cases-case4291_1
Unknown
engchuan_15_ASD_discovery_cases-case6340_3
Unknown
ACP1,SH3YL1
engchuan_15_ASD_discovery_cases-case8437_202
Unknown
ACP1,ALKAL2,SH3YL1
feliciano_19_ASD_discovery_cases-caseSP0036541
Paternal
Simplex
TPO,SNTG2
null
fitzgerald_14_ASD/DD/ID_discovery_cases-case000025
De novo
Unknown
Unknown
PXDN
gai_11_ASD_discovery_cases-AU1307302
Inherited
TMEM18, LOC391343, SNTG2
gai_11_ASD_replication_cases-AU038503
Inherited
FAM110C, SH3YL1, SH3YL1, ACP1, FAM150B, TMEM18, LOC391343, SNTG2
gai_11_ASD_replication_cases-AU038504
Inherited
FAM110C, SH3YL1, SH3YL1, ACP1, FAM150B, TMEM18, LOC391343, SNTG2
gannon_11_ASD/DD_discovery_cases-patientC
Unknown
Unknown
NA
girirajan_13b_ASD_discovery_cases-28506106267
Unknown
Unknown
Unknown
PXDN,MYT1L
husson_20_ASD_discovery_cases-case263
ddPCR, QMPSF, or aCGH
Paternal
Familial
Unknown
PXDN,MYT1L
itsara_10_ASD_discovery_cases-HI4500
aCGH (custom NimbleGen 12 X 135)
De novo
Simplex
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001165
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM110C,ACP1,ALKAL2,LINC01865,SH3YL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001217
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FAM110C,ACP1,ALKAL2,LINC01865,LINC01874,SH3YL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001775
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01939,SNTG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001948
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,MYT1L-AS1,SH3YL1,TPO,PXDN,LINC01250,EIPR1,SNTG2,MYT1L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001984
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EIPR1-IT1,TRAPPC12-AS1,RNASEH1-AS1,RPS7,TMSB4XP2,GAPDHP48,ADI1,RNASEH1,COLEC11,EIPR1,TRAPPC12,ALLC,DCDC2C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002008
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002804
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TPO,PXDN,SNTG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003766
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TPO,SNTG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004342
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EIPR1-IT1,TRAPPC12-AS1,RNASEH1-AS1,RPS7,TMSB4XP2,ADI1,RNASEH1,COLEC11,LINC01250,EIPR1,TRAPPC12,ALLC
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004923
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01115,LINC01939,TPO,SNTG2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005019
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,SH3YL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005391
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
FAM110C
krumm_13_ASD_discovery_cases-case12837.p1
Maternal
Simplex
Segregated
TPO
krumm_15_ASD_discovery_cases-case12837.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TPO
kushima_22_ASD_discovery_cases-caseASD0882
qRT-PCR
Unknown
MYT1L
kushima_22_SCZ_discovery_cases-caseSCZ1067
qRT-PCR
Unknown
MYT1L
larson_17_ASD_discovery_cases-case43
Unknown
Unknown
PXDN,MYT1L
larson_17_ASD_discovery_cases-case5
Unknown
Simplex
Unknown
LINC01875,LINC01115,LINC01874,TMEM18,LINC01939,TPO,SNTG2
leite_22_DD/ID_discovery_cases-case078
Unknown
PXDN,MYT1L
leppa_16_ASD_discovery_cases-AU1307302
Maternal
Multiplex
Not segregated (CNV not present in affected sibling and present in unaffected sibling AU1307301)
LINC01875,LINC01115,LINC01874,TMEM18,LINC01939,SNTG2
levy_11_ASD_discovery_cases-11335.p1
Paternal
Simplex
Segregated
LINC01115,TMEM18
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband2
Unknown
Simplex
Unknown
LINC01939,SNTG2
mahjani_21_ASD_discovery_cases-case233
Unknown
SNTG2,TMEM18,ALKAL2,LINC01115,LINC01874,SNTG2-AS1,LINC01939,LINC01875,TMEM18-DT,LINC01865,TPO,PXDN,MYT1L
meyer_11_ASD_discovery_cases-patientR1812
FISH, array SNP (Affymetrix 6.0)
Maternal
Multiplex (half-brother with autism)
Segregated
PXDN,MYT1L
meyer_11_ASD_discovery_cases-patientR1813
FISH, array SNP (Affymetrix 6.0)
Maternal
Multiplex (half-brother with autism)
Segregated
PXDN,MYT1L
monteiro_19_ASD_discovery_cases_case5
Unknown
PXDN,MYT1L
morrow_08_ASD_discovery_cases-case2901
Maternal
NA
NA
3' end of TMEM18
nava_13_ASD_discovery_cases-Fam1178Proband10801
Paternal
Simplex
Unknown
EIPR1-IT1,EIPR1
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
TMEM18,LOC339822
prasad_12_ASD_discovery_cases-caseMM1110-003S
Unknown
Unknown
Unknown
TPO,SNTG2
rio_12_DD_discovery_cases-case1
FISH
De novo
Multiplex (for neurodevelopmental disorders/NDDs)
Segregated
LINC01875,LINC01115,TMEM18,LINC01939,MYT1L-AS1,TPO,PXDN,SNTG2,MYT1L
rosenfeld_10_ASD_discovery_cases-case26164
FISH
Paternal
Unknown
Unknown
SH3YL1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1407-0
qPCR
Paternal
Unknown
Unknown
LINC01939
sanders_11_ASD_discovery_cases-11264.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
DCDC2C
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11818.p1
Maternal
Simplex (quad-proband matched)
Segregated
TPO
sanders_11_ASD_discovery_cases-11941.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EIPR1
sanders_11_ASD_discovery_cases-12008.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12070.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TPO
sanders_11_ASD_discovery_cases-12117.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EIPR1
sanders_11_ASD_discovery_cases-12596.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12607.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12645.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12837.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TPO
sanders_11_ASD_discovery_cases-13266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sandoval_talamantes_23_ASD_discovery_cases-caseAUT52
Unknown
ACP1,SH3YL1,TRAPPC12,SNTG2,ADI1,ALLC,COLEC11,TMEM18,ALKAL2,RNASEH1,LINC01115,FAM110C,DCDC2C,LINC01874,MYT1L-AS1,GAPDHP48,LINC01304,TRAPPC12-AS1,EIPR1-IT1,LINC01250,SNTG2-AS1,LINC01875,LINC01939,RPS7,LINC01865,TMEM18-DT,TPO,EIPR1,TMSB4XP2,PXDN,MYT1L
sansovic_17_DD/ID/ASD_discovery_cases-case30
Unknown
MYT1L
szatmari_07_ASD_discovery_cases-NAAR043-F6-01C06146
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
szatmari_07_ASD_discovery_cases-NAAR043-F7-01C06147
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
tabet_12_ASD_discovery_cases-patient1
Paternal
Multiplex
Unknown
yin_16_ASD_discovery_cases-case52
Unknown
Unknown
Unknown
ACP1,ALKAL2,LINC01865,SH3YL1
yuen_16_ASD_discovery_cases-sample2-1343-003
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
SNTG2
yuen_17_ASD_discovery_cases-case2-1343-003
Affymetrix 6.0
Putative De novo
Simplex
Possibly segregated
FAM110C,ACP1,ALKAL2,LINC01875,LINC01115,LINC01865,LINC01874,TMEM18,LINC01939,SH3YL1,TPO,PXDN,SNTG2,MYT1L
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC06145
No validation step reported
Paternal
MYT1L
engchuan_15_ASD_discovery_controls-controlB326195_1007874649
Unknown
LINC01865
engchuan_15_ASD_discovery_controls-controlB559623_1007853786
Unknown
FAM110C
engchuan_15_ASD_discovery_controls-controlB881400_1007872288
Unknown
FAM110C
engchuan_15_ASD_discovery_controls-controlHABC_901166_901166
Unknown
FAM110C
engchuan_15_ASD_discovery_controls-controlHABC_902599_902599
Unknown
FAM110C
engchuan_15_ASD_discovery_controls-controlHABC_902620_902620
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902795_902795
Unknown
itsara_10_ASD_discovery_controls_1-HI4476
aCGH (custom NimbleGen 12 X 135)
De novo
Simplex
kanduri_15_ASD_discovery_controls-control_split1501
Unknown
Intergenic CNV: nearest genes, FAM110C(dist=58391),SH3YL1(dist=28164)
kanduri_15_ASD_discovery_controls-control_split1800
Unknown
Intergenic CNV: nearest genes, LOC100505964(dist=170077),LOC727982(dist=453664)
kanduri_15_ASD_discovery_controls-control_split425
Unknown
Intergenic CNV: nearest genes, FAM110C(dist=58391),SH3YL1(dist=28164)
kanduri_15_ASD_discovery_controls-control_split715
Unknown
Intergenic CNV: nearest genes, FAM110C(dist=58391),SH3YL1(dist=28164)
krumm_13_ASD_discovery_controls-control12733.s1
Maternal
Simplex
TPO
krumm_13_ASD_discovery_controls-control13296.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TPO
leppa_16_ASD_discovery_controls-AU1307301
Maternal
Multiplex
LINC01875,LINC01115,LINC01874,TMEM18,LINC01939,SNTG2
levy_11_ASD_discovery_controls-11447.s1
Paternal
Simplex
NA
SH3YL1
poultney_13_ASD_discovery_controls-control05C44168
Unknown
MYT1L
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
SNTG2
sanders_11_ASD_discovery_controls-11167.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Paternal
Simplex (quad)
NA
SH3YL1
sanders_11_ASD_discovery_controls-11798.s1
Unknown
Simplex (quad)
NA
EIPR1
sanders_11_ASD_discovery_controls-11941.s1
Unknown
Simplex (quad)
NA
EIPR1
sanders_11_ASD_discovery_controls-12325.s1
Unknown
Simplex (quad)
NA
EIPR1
sanders_11_ASD_discovery_controls-12650.s1
Both parents
Simplex (quad)
NA
SNTG2
sanders_11_ASD_discovery_controls-13266.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
TPO
wang_10_ASD_discovery_controls-Aut26
Unknown
NA
NA
LINC01939,TPO,PXDN,SNTG2,MYT1L
No Animal Model Data Available