7q35CNV Type: Deletion-Duplication
Largest CNV size: 524762 bp
Statistics Box:
Number of Reports: 49
Number of Reports: 49
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment.
Deletion
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and...
Deletion-Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs 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
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.
Deletion
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahmad_23_ASD/ADHD/DD_discovery_cases
Affected individuals with 6q26 CNVs affecting the PRKN gene assessed by the University of Rochester Medical Center (Rochester, NY, USA) between 2008 and 2011.
8
Five of the eight affected individuals presented with developmental delay; additional phenotypes observed in this cohort were seizures (n=2), autism spectrum disorder (n=1), and ADHD (n=1).
Range, 1 day-28 yrs.
37.5% Male
191395
1
0
1
al-murrani_12_DD_discovery_cases
Second child born to non-consanguineous European couple with normal langauge development
1
Speech delay, mild motor delay, and behavioral problems resulting from communication difficulties
3 yrs.
Male
450000
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
65889
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
25000
1
0
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
128038
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
231000
2
0
2
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
270000
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
886000
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
109976
0
1
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
75152
1
0
1
d'onofrio_23_ASD/DD/ID_discovery_cases
Female patient born to non-consanguineous Italian parents with a compound heterozygous mutation in the CNTNAP2 gene consisting of two inherited microdeletions from an initial cohort of 22 individuals with monoalleleic or biallelic CNTNAP2 variants.
1
Case was formally diagnosed with autism spectrum disorder (ASD) and also presented with developmental delay (DD), intellectual disability (ID), and epilepsy.
5 yrs.
Female
31950
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
177559
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
19727
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
524761
7
10
17
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
1431000
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
156003
4
0
4
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
33369
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
829637
0
2
2
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
111756
1
1
2
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
291055
4
0
4
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
43749
0
1
1
kousoulidou_13_ASD_discovery_cases
Cypriot patients with ASD or autistic features
50
Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
Range, 3-18 yrs.
90% Male
25450
1
0
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
140957
1
0
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
870717
1
1
2
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
35598
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
5539
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
29000
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
74124
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
530000
2
1
3
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
246000
1
0
1
newbury_12_ASD/CAS_discovery_cases
Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation
1
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)
14 yrs.
Male
69443
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
86631
1
1
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
524762
0
6
6
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
2194
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
536079
2
4
6
ranieri_22_ASD_discovery_cases
Second child of healthy unrelated parents with a family history negative for neuropsychiatric diseases carrying a paternally-inherited 7q35 duplication affecting the CNTNAP2 gene.
1
Case was diagnosed with autism spectrum disorder at 3 years of age (ADOS-2).
3 yrs. 7 mos.
Male
833542
0
1
1
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases
Two affected female siblings from a consanguineous family carrying a CNTNAP2 deletion
2
Both cases diagnosed with severe intellectual disability (according to Wechsler adult intelligence scale) and ASD (DSM-5)
N/A
Female
203000
2
0
2
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
227489
4
2
6
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
152326
7
1
8
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
119000
1
0
1
servetti_21_ASD/ID/EP_discovery_cases
Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
12
All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
NA
83.33% Male
68156
1
0
1
smogavec_16_ID/EP_discovery_cases
Individuals from 4 families presenting with biallelic CNTNAP2 aberrations in which at least one is a deletion or duplication targeting the gene
5
Intellectual disability (ID) and epilepsy/seizures (EP) present in all five cases
Range, 2-47 years
80% Male
1420000
5
1
6
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
231000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
102354
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
179024
1
0
1
watson_14_ID/EP_discovery_cases
Affected family members from a consanguienous UK family of Pakistani ancestry with a complex family history with multiple autosomal recessive disorders
3
Intellectual disability, epilepsy, and ataxic cerebral palsy in two cases; undiagnosed severe neurodevelopmental disorder with seizures in one case
Range, 14 yrs-N/A
33.3% Male
76800
6
0
6
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
885713
0
5
5
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
135215
1
0
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
726000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
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
478735
6
9
15
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
0
0
0
0
kousoulidou_13_ASD_discovery_controls
Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
130
Controls
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
269784
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
44343
1
0
1
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
44344
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
19794
0
1
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)
148148
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)
536079
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.
167987
4
2
6
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
885713
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahmad_23_ASD/ADHD/DD_discovery_cases
United States
aCGH
Agilent 4x44K v2.0
NA
BlueFuse Multi v.2.5
FISH
al-murrani_12_DD_discovery_cases
European
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.0.1
None
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
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
d'onofrio_23_ASD/DD/ID_discovery_cases
Italy
aCGH
NA
NA
NA
MLPA
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_cases
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
qPCR
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
newbury_12_ASD/CAS_discovery_cases
European (Caucasian)
aCGH
Agilent 244K
Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
ranieri_22_ASD_discovery_cases
Italy
aCGH
Agilent 4x180 K SurePrint G3
NA
Agilent Cytogenomics v.4.0.3.12
None
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases
European
aCGH
BlueGnome ISCA 4x44k Cytochip
BlueGnome BlueFuse multi v2.3
qPCR, Sanger sequencing
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
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
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
None
smogavec_16_ID/EP_discovery_cases
N/A
aCGH, array SNP
MLPA, FISH
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
watson_14_ID/EP_discovery_cases
Pakistani
aCGH, WGS, breakpoint PCR
BlueGnome ISCA 8x60K v2.0
BlueFuse Multi v3.1, R module DNA copy v1.32.0
Breakpoint PCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kousoulidou_13_ASD_discovery_controls
Cyprus
aCGH
Agilent 400K custom array-CGH
Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahmad_23_ASD/ADHD/DD_discovery_cases-case7
2 yrs.
M
Developmental delay
Developmental delay
146670286
146861680
191395
GRCh38
Deletion
Yes
al-murrani_12_DD_discovery_cases-case1
3 yrs.
M
Speech delay
Case referred to genetic service for opinion regarding an abnormal molecular karyotpye result. Birth/neonatal history: uneventful perinatal history, born at term. Developmental milestones: mild motor delay (walking at around 18-20 months), speech late to develop; able to pronounce six words at age of 2.5 years. Language and communication evaluation: uses up to 3 words in sentences; speech difficult to understand. Motor and musculoskeletal evaluation: speech therapist notd presence of reduced tone of orofacial musculature with associated tendency to dribble. Behavioral/psychiatric evaluation: behavioral problems resulting from communication difficulties. Auditory evaluation: normal hearing. Dysmorphic features: none. Growth parameters: normal growth. Family history: second child born to non-consanguineous European couple with normal language development; mother not affected by any learning or speech difficulties; 5-year-old brother with normal language development for his age, but reported to have difficulties in comprehension and following instructions. Mother and brother both carry 7q35/CNTNAP2 deletion.
NA
146616443
147067586
451144
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB266
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 7, ADOS social affect domain score 1.6, ADOS restricted and repetitive behaviors domain score 1). Birth/neonatal history: maternal disease relapse at 32 weeks gestation (treated with steroid therapy); born at term by caesarean section. EEG: unusual rapid activity in the temporal regions, but no epileptiform discharges. Brain imaging: normal. Growth parameters: tall stature (height >97th %ile); weight 75th-97th %ile, head circumference 10th-25th %ile. Family history: positive for neurological disease (mother with multiple sclerosis).
Total IQ/GQ 61
146237485
146303373
65889
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case68738
5 yrs.
M
Developmental delay
Global developmental delay. Deletion absent in mother and healthy sister, but is present in similarly affected sister. Paternal DNA not available.
144812387
144837818
25432
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB87
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
146619982
146748019
128038
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case57
10 yrs. 7 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
146801828
147033410
231583
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case60
12 yrs. 4 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
146778636
147098040
319405
GRCh38
Deletion
Yes
bremer_11_ASD_discovery_cases-case29
8
M
ASD
Non-syndromic ASD, broad neuropsychiatric pehnotype familial case
MR (IQ<70)
146459066
146727164
268099
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-1638
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score n/a (past score n/a); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score n/a (past score n/a); Restricted, repetitive, and stereotyped patterns of behaviour, current score n/a (past score n/a); Abnormality of development evident at or before 36 months, past score n/a. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score n/a; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score n/a. Epilepsy: n/a.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
145367649
146253362
885714
GRCh38
Duplication
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
144220496
144330471
109976
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case422
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
146692099
146767250
75152
GRCh38
Deletion
No
d'onofrio_23_ASD/DD/ID_discovery_cases-caseFam13-17
5 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Developmental milestones: developmental delay, developmental regression. Language and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia, hyporeflexia, ataxia. Behavioral/psychiatric evaluation: formal diagnosis of autism spectrum disorder, sleep disorder. Epilepsy/seizures: epilepsy with seizure onset at 17 months; seizure types included febrile seizures, focal aware seizures, focal impaired awareness seizures, and focal to bilateral tonic-clonic seizures. EEG: alternating side ictal pattern involving the fronto-temporal regions. Brain imaging: inferior vermis hypoplasia, superior cerebellar vermis atrophy. Additional medical history: breathing disturbances, gastroesophageal reflux. Family history: born to non-consanguineous Italian parents; there was no family history of neurological disorders.
Severe intellectual disability
147954725
147986674
31950
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU038303
NA
NA
Non-syndromic ASD
Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
145643535
145821094
177559
Unknown
Deletion
Yes
egger_14_ASD_discovery_cases-caseA103
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
146359328
146379054
19727
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13119_1364
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146513853
146567475
53623
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13133_1503
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146522277
146600558
78282
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14112_2010
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143735908
143878890
142983
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14386_3110
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146513853
146608231
94379
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16038_1571018001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146963832
147005062
41231
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18093_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146294039
146395353
101315
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18188_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143735908
143878890
142983
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3009_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146525773
146557568
31796
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3018_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146731123
146922983
191861
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3045_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143558678
143859238
300561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5006_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146522277
146560229
37953
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5056_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143574496
144178446
603951
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5368_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146525773
146670701
144929
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6239_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143563439
143807126
243688
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6266_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146525773
146557568
31796
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6320_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
146525773
146557568
31796
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8643_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
143736630
143875193
138564
GRCh38
Duplication
No
fan_19_ASD_discovery_cases-caseASD406
2 yrs.
M
ASD
CARS score 40 (severe severity)
144822648
146253362
1430715
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1298301
Autism
145511830
145667832
156003
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1298302
Autism
145511830
145667832
156003
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1412301
Autism
145629044
145723378
94335
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1412303
Autism
145629044
145723378
94335
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case578-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
146632044
146665413
33370
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12604.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
143512785
144151974
639190
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13568.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
145450574
146280212
829639
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case19D1111
4 mos. 25 days
M
Developmental delay
147692766
147804521
111756
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D1220
5 mos. 15 days
F
Developmental delay
146858965
146923215
64251
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002143
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146652508
146770440
117933
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002289
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146972827
147058018
85192
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004446
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146702866
146993921
291056
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004829
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
146754255
146966208
211954
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2982
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
145024376
145068124
43749
Unknown
Duplication
No
kousoulidou_13_ASD_discovery_cases-patient10
N/A
M
DD and autistic features
Psychomotor delay, autistic features. Received a preliminary diagnosis of ASD at age of 2 years. Suffers from social communication disorder, speech impairment, learning difficulties, global developmental delay, stereotyped behavior, and hyperactivity. Family history: none reported.
Global developmental delay, learning difficulties
146739122
146764573
25452
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0627
15 yrs.
F
ASD
Family history: negative.
IQ > 70
146655407
146796363
140957
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0592
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
146452132
147322848
870717
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0627
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
146655406
146796363
140958
GRCh38
Deletion
Yes
laffin_12_CAS_discovery_cases-case6
7-9 yrs.
NA
CAS
Years of apraxia treatment: 6. Familial status: negative. Language impairment: impairments in language onset and expression. Motor impairment: impairment in gross motor assessment tasks.
Cognitive impairment
147663560
147699158
35599
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case29
7 yrs.
F
Developmental delay
History of developmental delay, polydactyly
146496899
146502438
5540
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case12-522
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Absences, PS with dysarthria. Autistic features: No. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 112, performance IQ 107 (at 12 years of age).
146529166
146557745
28580
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case18.2
N/A
N/A
PDD-NOS
No additional clinical information available
146338646
146412770
74125
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case221
3 yrs.
M
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: absent speech. Musculoskeletal evaluation: skeletal anomalies. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: kidney malformations, genital malformations, cerebral malformations, neurological anomalies, ocular anomalies. Dysmorphic features: small nose, thick lips, downturned corners of the mouth, diastema, protruding tongue, posteriorly rotated ears. Growth parameters: microcephaly, short stature. Family history: positive for consanguineity, positive for familiarity, family history negative for NDDs.
Severe intellectual disability
146195975
146318975
123001
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case46
8 yrs.
M
Language delay and language disorder
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: behavioral anomalies. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: flat helix of the ear. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
146539138
146670316
131179
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown196
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
143728325
144255342
527018
GRCh38
Duplication
No
mikhail_11_DD/ID_discovery_cases-patient5
16 yrs.
F
Intellectual disability + developmental delay
Speech problems. Velopharyngeal insufficiency (VPI). Dysmorphic features: long narrow face, upslanted palpebral fissures, small ears, broad nasal bridge, high palate, pointed chin, low posterior hairline. Growth parameters: height, 153 cm (5-10th %ile); weight, 52.5 kg (25-50th %ile); head circumference, 54.5 (50th %ile).
Intellectual disability, developmental delay
146748699
147004918
256220
GRCh38
Deletion
Yes
newbury_12_ASD/CAS_discovery_cases-case1
14 yrs.
M
PDD-NOS and CAS
Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS). Developmental milestones: normal early development until age of 1.5 years (evidence of social withdrawal). Language and communication evaluation: assessment with Vineland Adaptive Behavior Scale (VABS) showed remarkable impairment in langauge and communication; at age of 14 years, case scored at an age equivalent of 3 years and 3 months in the communication domain, with major impairment in expressive subdomain. Behavioral/psychiatric evaluation: displayed stereotypic movements and behavioral disturbances with self-aggressive episodes. Vision and hearing evaluation: normal. Dysmorphic features: heavy eyebrows with mild synophris, down-slanting palpebral fissures, hypertelorism, short philtrum, carp shaped mouth, full lips. Growth parameters: normal height & weight, macrocephaly. Family history: second-born child of unrelated and healthy parents; parents were clinically normal with no family history of speech delay, autistic disorders or mental retardation.
144186936
144256379
69444
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-255-1
ASD
146206854
146293484
86631
Unknown
Duplication
No
nord_11_ASD_discovery_cases-315-1
ASD
145136907
145199587
62681
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case3018_003
NA
M
Autism
Highfunctioning autism, delayed language; abnormal EEG without seizures, treated with carbamazepine; born at 38 wks, oxygen deprivation due to cord around neck, 48 h in ICU; eczema, hydronephrosis of right kidney, weight problem, gross motor difficulties, polydactyly on right hand and left foot, head circumference P98
NA
146731123
146922983
191861
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5006_3
NA
M
ASD
NA
NA
146522277
146560229
37953
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5056_4
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features, normal neurological exam
Severe MR
143574496
144178446
603951
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5368_3
NA
M
ASD
NA
NA
146525773
146670701
144929
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6266_3
NA
F
Autism
ADHD, sleep disorder, language delay, normal physical exam, no epilepsy
Mild MR
146525773
146557568
31796
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6320_4
NA
M
ASD
NA
NA
146525773
146557568
31796
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2994A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0062301; NDAR ID NDAR_INVXN637AN1)
144399757
144401950
2194
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case103019L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
144789649
144800433
10785
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case132199L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
144943821
144956222
12402
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case142068L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
144843429
144851239
7811
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case162729
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
144634455
144649038
14584
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47371
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
142967439
143503517
536079
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case90278
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
145855688
145998482
142795
Unknown
Duplication
No
ranieri_22_ASD_discovery_cases-case1
3 yrs. 7 mos.
M
ASD
Case diagnosed with autism spectrum disorder at 3 years of age (ADOS-2). Developmental milestones: speech delay (first words around 2.5 years). Language and communication evaluation: pronouncation of about ten words currently. Motor and musculoskeletal evaluation: psychomotor instability, motor stereotypies. Behavioral/psychiatric evaluation: significant difficulties in social interaction noted at 2 years, poor eye contact, repetitive play, tendency towards isolation and lack of interest in other children. Additional medical history: selective diet conditioned by gastrointestinal problems. Family history: second child of healthy unrelated parents; family history negative for neuropsychiatric diseases.
Normal IQ (Leiter).
146754255
147587796
833542
GRCh38
Duplication
No
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases-case1
N/A
F
ID, ASD, and epilepsy
Case classified with ASD (DSM-5). Birth/neonatal history: born at full term with normal height, weight, and head circumference with no reported prenatal problems. Developmental milestones: psychomotor development normal up to 36 months of age. Langauge and communication evaluation: language regression occurred simultaneously with seizure onset; only syllables were initially lost followed by disappearance of verbal production; current language skills limited to a few isolated words, rarely spoken with communicative intent; vocal tics. Motor and musculoskeletal evaluation: no focal motor deficits of the limbs, clumsiness. Behavioral/psychiatric evaluation: trunk swinging motor stereotypies at 36 months of age, increased stereotypies over time. Epilepsy/seizures: complex partial seizures (age of onset, 36 months) characterized by loss of contact, expressions of fright and redness of the face with perioral cyanosis; seizures became more frequent over time, additional features including stertorous breathing, loss of consciousness and sometimes generalized tonic-clonic movement of falling to the ground; seizures controlled by carbamazepine (1000 mg/day). EEG: poorly organized background activity without slow and epileptiform abnormalities. Brain imaging: no gross structural abnormalities reported. Dysmorphic features: low forehead, low hairline, bushy eyebrows, high arched palate, dental malocclusion. Growth parameters: weight >97th %ile since 2 years of age. Family history: unaffected parents (first degree cousins) were heterozygous for the 7q35/CNTNAP2 deletion; an unaffected male sibling did not carry the 7q35/CNTNAP2 deletion.
Severe intellectual disability (according to Wechsler adult intelligence scale)
146711006
146914175
203170
GRCh38
Deletion
Yes
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases-case2
N/A
F
ID, ASD, and epilepsy
Case classified with ASD (DSM-5). Birth/neonatal history: born at full term with normal height, weight, and head circumference with no reported prenatal problems. Developmental milestones: psychomotor development normal up to 18 months of age. Langauge and communication evaluation: language regression occurred simultaneously with seizure onset; slowing in language acquisition, poor verbal communication. Motor and musculoskeletal evaluation: limited movement due to obesity (awkward gait), but no focal motor deficits of the limbs. Behavioral/psychiatric evaluation: trunk swinging motor stereotypies at 20 months of age; progressive behavioral changes; poor interpersonal skills; inertia; apathy; aggression. Epilepsy/seizures: complex partial seizures (age of onset, 20 months) characterized by loss of contact, expressions of fright and redness of the face with perioral cyanosis; seizures became more frequent over time, additional features including stertorous breathing, loss of consciousness and sometimes generalized tonic-clonic movement of falling to the ground; seizures were refractive (unresponsive to carbamazepine and other anticonvulsants); currently has daily seizures of variable frequency (up to 4-5 episodes per day). EEG: short theta widespread outbursts with pseudo-periodic trend at 20 months of age (outbursts were prevalent in left hemisphere of medial temporal region during sleep); well organized background activity with outbursts of slow waves (4/5 Hz) sometimes preceded by small amplitude spikes in right temporal region and spreading to temporal regions of contralateral hemisphere at 4 years 2 months of age (anomalies assumed character of slow waves and slow spike-waves that spread from right hemisphere to contralateral side); recorded seizures showed theta-delta waves and spikes in right temporal hemisphere and vertex, followed by 3 Hz slow activity spread throughout right hemisphere; EEG exams during sleep at age of 14 years showed diffuse epileptiform abnormalities (spikes) in anterior bilateral regions. Brain imaging: hypoplasia of cerebellar vermis and hemispheres. Dysmorphic features: low forehead, low hairline, bushy eyebrows, high arched palate, dental malocclusion. Growth parameters: weight >97th %ile since 2 years of age; classified as severely obese. Family history: unaffected parents (first degree cousins) were heterozygous for the 7q35/CNTNAP2 deletion; an unaffected male sibling did not carry the 7q35/CNTNAP2 deletion.
Severe intellectual disability (according to Wechsler adult intelligence scale)
146711006
146914175
203170
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1124-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
144280907
144363467
82561
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
143558678
143865355
306678
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1546-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
143558678
143865355
306678
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-105
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
144190183
144363467
173285
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-245
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
144190183
144363467
173285
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-072
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
143748383
143844692
96310
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
147170247
147174821
4575
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
146556961
146709287
152327
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12053.p1
4.1
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 90; verbal IQ, 71
145665307
145670452
5146
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
146096986
146099665
2680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12575.p1
17
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
146525773
146557568
31796
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
146705449
146723479
18031
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
146019852
146036429
16578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
146298320
146401007
102688
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case71
11 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
146118395
146237516
119122
GRCh38
Deletion
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC13
NA
M
ASD, intellectual disability, and epilepsy
ASD, epilepsy
Intellectual disability
146767190
146835345
68156
GRCh38
Deletion
No
smogavec_16_ID/EP_discovery_cases-case2
2 yrs.
F
ID and epilepsy
Birth/neonatal history: gestational age and birth parameters unknown. Developmental milestones: walking at 3 years; age at first words unknown; loss of verbal skills at 14 months. Language and communication evaluation: absent speech (no words at 3 years), babbling. Motor and musculoskeletal evaluation: hyporeflexia. Behavioral/psychiatric evaluation: hand wringing. Epilepsy/seizures: seizures (age of onset 14 months). EEG: focal seizure disorder. Additional medical history: episodic hyperventilation. Dysmorphic features: none. Growth parameters: height and weight unknown, OFC 9th %ile. Family history: healthy parents, unaffected maternal half-brother. Note: case also carries a maternally-inherited nonsense variant in the CNTNAP gene (c.3046C>T;p.Arg1016Ter).
Severe intellectual disability
144823540
146252879
1429340
GRCh38
Deletion
Yes
smogavec_16_ID/EP_discovery_cases-case3
4 yrs. 7 mos.
M
ID and epilepsy
Birth/neonatal history: gestational age of 4 weeks; birth weight of 3075 g (-1.24 SD), birth length of 48 cm (-1.96 SD), birht OFC of 36 cm (0.31 SD). Developmental milestones: walking at 18 months; first words at 2 years, no loss of verbal skills, no loss of motor skills. Language and communication evaluation: 10 words and a few 2-word sentences at last investigation. Motor and musculoskeletal evaluation: purposeful hand use; driving trainer bike at 4 years. Behavioral/psychiatric evalaution: temper tantrums. Epilepsy/seizures: focal tonic seizures and complex focal seizures (onset at 17 months); seizure free since age of 2 years 5 months. EEG: occasional spikes and slowing left temporal. Brain imaging: suspected focal cortical dysplasia left temporal, patchy T2-hyperintensities in white matter right frontal. Dysmorphic features: none. Growth parameters: height of 108.6 cm (+0.02 SD), weight of 19.9 kg (+1.25 SD), OFC of 50.0 cm (-0.95 SD). Family history: parents are healthy and nonconsanguineous.
Severe intellectual disability (no formal test)
146098702
146127651
28950
GRCh38
Deletion
No
smogavec_16_ID/EP_discovery_cases-case4
47 yrs.
M
ID and epilepsy
Birth/neonatal history: gestational age of 40 weeks; birth weight of 4500 g (+1.99 SD), birth length and OFC unknown. Developmental milestones: walking at 18 months-2 years; first words at 12-15 months, loss of verbal skills at 18 months. Language and communication evaluation: absent speech, communicates via gestures. Motor and musculoskeletal evaluation: purposeful hand use (can use fork and spoon); capable of running and climbing but not riding a bike; walks with bent knees; no loss of motor skills; episodic ataxia; spina bifida occulta; kyphosis; osteoporesis. Behavioral/psychiatric evaluation: tactile defensiveness, reduced eye contact, skin picking, aggression, self-mutilation. Epilepsy/seizures: temporal and generalized seizures (onset at 18 months). EEG: diffuse cerebral dysfunction. Additional medical history: constipation, subclinical hypothyroidism. Dysmorphic features: none. Growth parameters: height of 164 cm (-2.16 SD), weight of 62.5 kg (BMI 23.2), and OFC of 57 cm (+0.09 SD). Family history: parents are healthy and non-consanguineous; similarly affected brother.. Note: case also carries a maternally-inherited frameshift variant in the CNTNAP gene (c,2963delC;p.Cys989AlafsTer45).
Severe intellectual disability (no formal test)
147291897
147404613
112717
GRCh38
Deletion
No
smogavec_16_ID/EP_discovery_cases-case5
40 yrs.
M
ID and epilepsy
Birth/neonatal history: gestational age of 38 weeks (dizygotic twin pregnancy); birth weight of 3700 g (+0.89 SD), birth length and OFC unknown. Developmental milestones: walking at 2-3 years; first words at 2-3 years. Language and communication evaluation: no loss of verbal skills; sentences with articulation difficulties at last investigation. Motor and musculoskeletal evaluation: purposeful hand use (can write simple sentences); capable of riding a bike with training wheels in childhood; no loss of motor skills; nystagmus; pes cavus; hyporeflexia of the lower limbs. Behavioral/psychiatric evaluation: no behavioral abnormalities (very sociable). Epilepsy/seizures: daily complex partial seizures (onset at 15 months). EEG: frequent left frontotemporal epileptiform discharges on EEG. Brain imaging: deep white matter intensities of uncertain clinical significance. Dysmorphic features: none. Growth parameters: height of 167 cm (-1.74 SD), weight of 80.5 kg (BMI 28.9), and OFC of 59 cm (+1.32 SD). Family history: parents are healthy and non-consanguineous; similarly affected brother. Note: case also carries a maternally-inherited frameshift variant in the CNTNAP gene (c,2963delC;p.Cys989AlafsTer45).
Moderate intellectual disability (basic literacy skills)
147291897
147404613
112717
GRCh38
Deletion
No
smogavec_16_ID/EP_discovery_cases-case6
13 yrs.
M
ID and epilepsy
Birth/neonatal history: born at term; birth weight of 3850 g (+0.51 SD), birth length and OFC unknown. Developmental milestones: walking at 2 years; first words at 1 year, language delay. Language and communication evaluation: verbal with simple sentences at last investigation. Motor and musculoskeletal evaluation: purposeful hand use, constant evolution of motor skills. Behavioral/psychiatric evaluation: low frustration tolerance, temper tantrums. Epilepsy/seizures: status epilepticus (onset at 3 years 3 months, 3-4/year until age of 11 years). EEG: slow, no inter ictal epileptic activity. Brain imaging: normal MRI at 7 years. Dysmorphic features: mild hypertelorism, downslanting palpebral fissures. Growth parameters: height of 163 cm (+0.06 SD), weight of 72.9 kg (+1.64 SD), and OFC of 55.5 cm (+0.31 SD). Family history: parents are non-consanguineous; mother presented with lability and anxiety.
Moderate intellectual disability (IQ of 56 on Leiter non-verbal at age of 11 years)
146692100
146890216
198117
GRCh38
Deletion
No
smogavec_16_ID/EP_discovery_cases-case6
13 yrs.
M
ID and epilepsy
Birth/neonatal history: born at term; birth weight of 3850 g (+0.51 SD), birth length and OFC unknown. Developmental milestones: walking at 2 years; first words at 1 year, language delay. Language and communication evaluation: verbal with simple sentences at last investigation. Motor and musculoskeletal evaluation: purposeful hand use, constant evolution of motor skills. Behavioral/psychiatric evaluation: low frustration tolerance, temper tantrums. Epilepsy/seizures: status epilepticus (onset at 3 years 3 months, 3-4/year until age of 11 years). EEG: slow, no inter ictal epileptic activity. Brain imaging: normal MRI at 7 years. Dysmorphic features: mild hypertelorism, downslanting palpebral fissures. Growth parameters: height of 163 cm (+0.06 SD), weight of 72.9 kg (+1.64 SD), and OFC of 55.5 cm (+0.31 SD). Family history: parents are non-consanguineous; mother presented with lability and anxiety.
Moderate intellectual disability (IQ of 56 on Leiter non-verbal at age of 11 years)
146631783
147559533
927751
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseCLIN19
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
146402556
146633494
230939
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case194
NA
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
146171633
146273986
102354
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
144187278
144366301
179024
GRCh38
Deletion
No
watson_14_ID/EP_discovery_cases-patient_II:5
N/A
F
Epilepsy
Undiagnosed severe neurodevelopmental disorder including early-onset seizures, reported to be unable to walk or talk. Family history: two other family members with similar clinical profile and homozygous CNTNAP2 deletion; case from a consanguineous family with complex family history with at least two other autosomal recessive disorders known to affect individuals in other sibships.
146837612
146914451
76840
GRCh38
Homozygous deletion
No
watson_14_ID/EP_discovery_cases-patient_III:4
19 yrs.
F
ID and epilepsy
Birth/neonatal history: born by C-section for breech presentation and cephalopelvic disproportion after uneventful pregnancy; described as "awkward" baby. Developmental milestones: delayed motor milestones (sitting at 10 months, standing at 18 months, walking at 4 years). Language and communication evalaution: used speech with a vocabulary estimated by parents to be that of a 5-year-old. Motor and musculoskeletal evaluation: diagnosed with ataxic cerebral palsy at age of 2.5 years; broad-based gait, minimal ataxia, no spasticity, hyporeflexic. Behavioral/psychiatric evaluation: displayed obsessive-compulsive behavior. Epilepsy/seizures: seizures began at age of 2 years and were managed with carbamazepine; after puberty, seizures were catamenial. Dysmorphic features: thin habitus, deep-set eyes. Growth parameters: head circumference of 45 cm (-1.6 SD, WHO charts) at age of 2 years. Family history: healthy parents; sibling and maternal aunt with similar clinical profile and homozygous CNTNAP2 deletion; case from a consanguineous family with complex family history with at least two other autosomal recessive disorders known to affect individuals in other sibships.
Severe cognitive impairment
146837612
146914451
76840
GRCh38
Homozygous deletion
Yes
watson_14_ID/EP_discovery_cases-patient_III:5
14 yrs.
M
ID and epilepsy
Developmental milestones: not walking or socializing at 18 months of age; still had no speech at age of 5 years. Motor and musculoskeletal evaluation: diagnosed with ataxic cerebral palsy; broad-based gait, mild ataxia, hyporeflexia. Behavioral/psychiatric evaluation: restless behavior, unusual posturing, stereotypical thrusting and waving movements of upper limb. Epilepsy/seizures: began to have seizures at age of 2 years; frequent generalized tonic-clonic seizures that were treated with valproate. Brain imaging: normal brain MRI at age of 2 years. Family history: healthy parents; sibling and maternal aunt with similar clinical profile and homozygous CNTNAP2 deletion; case from a consanguineous family with complex family history with at least two other autosomal recessive disorders known to affect individuals in other sibships.
Severe cognitive impairment
146837612
146914451
76840
GRCh38
Homozygous deletion
Yes
yin_16_ASD_discovery_cases-case286
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
143514550
143521303
6754
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case287
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
143514550
143521303
6754
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case288
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
143514550
143521303
6754
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case289
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
145367649
146253362
885714
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case290
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
147084888
147151489
66602
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1362-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
146041504
146176719
135216
GRCh38
Deletion
Yes
zhou_19_ASD_discovery_cases-caseAU037803
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
146114361
146839954
725594
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB495530_1007854186
N/A
N/A
Control
No previous psychiatric history
146513853
146557568
43716
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB614568_1007871710
N/A
N/A
Control
No previous psychiatric history
143728268
144207003
478736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB653074_1007854147
N/A
N/A
Control
No previous psychiatric history
143558678
143848626
289949
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB653212_1007874323
N/A
N/A
Control
No previous psychiatric history
143734790
143884414
149625
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
N/A
N/A
Control
No previous psychiatric history
145554908
145820604
265697
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
N/A
N/A
Control
No previous psychiatric history
146619982
146700247
80266
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
N/A
N/A
Control
No previous psychiatric history
146298914
146395353
96440
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
N/A
N/A
Control
No previous psychiatric history
143613312
143859238
245927
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB968884_1007842426
N/A
N/A
Control
No previous psychiatric history
146298914
146395353
96440
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB974346_1007875852
N/A
N/A
Control
No previous psychiatric history
146298914
146395353
96440
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901062_901062
N/A
N/A
Control
No previous psychiatric history
146525773
146557568
31796
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901205_901205
N/A
N/A
Control
No previous psychiatric history
145592726
145757122
164397
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
N/A
N/A
Control
No previous psychiatric history
143735908
143878890
142983
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902586_902586
N/A
N/A
Control
No previous psychiatric history
143735908
143878890
142983
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902633_902633
N/A
N/A
Control
No previous psychiatric history
146525773
146557568
31796
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13653.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
146774270
147044054
269785
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0148
62 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
146758880
146803222
44343
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0148
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
146758879
146803222
44344
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C28230
Control
145092762
145112555
19794
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C36635A
N/A
F
Control
NIMH Control (NIMH ID 50137)
144231911
144380058
148148
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
146096986
146099665
2680
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12053.s1
7.1
F
Control (matched sibling)
NA
NA
145665307
145670452
5146
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
145592726
145760713
167988
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
146542453
146557568
15116
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12575.s1
18.6
M
Control (matched sibling)
NA
NA
146525773
146557568
31796
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12859.s1
6.6
M
Control (matched sibling)
NA
NA
145452646
145452989
344
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahmad_23_ASD/ADHD/DD_discovery_cases-case7
FISH
Unknown
CNTNAP2
al-murrani_12_DD_discovery_cases-case1
Maternal
Simplex
Not segregated
CNTNAP2
annunziata_21_ASD_discovery_cases-caseIB266
qPCR, FISH
Paternal
CNTNAP2
asadollahi_14_NDD_discovery_cases-case68738
MLPA
Unknown (not maternal)
Multiplex
Possibly segregated
TPK1
bacchelli_20_ASD_discovery_cases-caseAB87
qPCR
Maternal
Simplex
CNTNAP2
battaglia_13_DD/ID/ASD_discovery_cases-case57
FISH or qPCR
Paternal
Unknown
Unknown
CNTNAP2
battaglia_13_DD/ID/ASD_discovery_cases-case60
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
CNTNAP2
bremer_11_ASD_discovery_cases-case29
MLPA, FISH
Maternal
NA
NA
CNTNAP2
chen_17_ASD_discovery_cases-caseU-1638
RT-qPCR
Unknown
DPY19L4P2,CNTNAP2
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
OR2A20P,CTAGE8,OR2A9P,OR2A1,OR2A42,OR2A7,ARHGEF34P,OR2A1-AS1
cucinotta_23_ASD_discovery_cases-case422
Maternal
CNTNAP2
d'onofrio_23_ASD/DD/ID_discovery_cases-caseFam13-17
MLPA
Maternal
Simplex
CNTNAP2
davis_09_ASD_discovery_cases-AU038303
qPCR
Paternal
Multiplex
Not segregated
CNTNAP2
egger_14_ASD_discovery_cases-caseA103
Unknown
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case13119_1364
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case13133_1503
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case14112_2010
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
engchuan_15_ASD_discovery_cases-case14386_3110
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case16038_1571018001
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case18093_301
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case18188_301
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
engchuan_15_ASD_discovery_cases-case3009_4
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case3018_3
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case3045_7
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,CTAGE15,TCAF2P1,TCAF1,TCAF2
engchuan_15_ASD_discovery_cases-case5006_3
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case5056_4
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,TCAF2
engchuan_15_ASD_discovery_cases-case5368_3
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case6239_3
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,CTAGE15,TCAF2P1,TCAF2
engchuan_15_ASD_discovery_cases-case6266_3
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case6320_4
Unknown
CNTNAP2
engchuan_15_ASD_discovery_cases-case8643_201
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
fan_19_ASD_discovery_cases-caseASD406
Unknown
Unknown
Unknown
RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,TPK1,CNTNAP2
gai_11_ASD_discovery_cases-AU1298301
Inherited
CNTNAP2 (intronic)
gai_11_ASD_discovery_cases-AU1298302
Inherited
CNTNAP2 (intronic)
gai_11_ASD_discovery_cases-AU1412301
Inherited
CNTNAP2 (intronic)
gai_11_ASD_discovery_cases-AU1412303
Inherited
CNTNAP2 (intronic)
gazzellone_14_ASD_discovery_cases-case578-3
Unknown
Unknown
Unknown
CNTNAP2
girirajan_13a_ASD_discovery_cases-12604.p1
Unknown
Simplex
Unknown
OR10AC1,PAICSP5,RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,EPHA1-AS1,CTAGE15,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,TCAF2
girirajan_13a_ASD_discovery_cases-13568.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DPY19L4P2,CNTNAP2
han_22_ASD/DD/ID_discovery_cases-case19D1111
Unknown
CNTNAP2
han_22_ASD/DD/ID_discovery_cases-case19D1220
Unknown
CNTNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002143
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CNTNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002289
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CNTNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004446
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CNTNAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004829
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CNTNAP2
kanduri_15_ASD_discovery_cases-case2982
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, TPK1(dist=491230),CNTNAP2(dist=745329)
kousoulidou_13_ASD_discovery_cases-patient10
qPCR
Maternal
Unknown
Unknown
CNTNAP2
kushima_18_ASD_discovery_cases-caseASD0627
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
CNTNAP2
kushima_22_ASD_discovery_cases-caseASD0592
qRT-PCR
Unknown
DUTP3,RANP2,CNTNAP2-AS1,CNTNAP2
kushima_22_ASD_discovery_cases-caseASD0627
qRT-PCR
Unknown
CNTNAP2
laffin_12_CAS_discovery_cases-case6
Unknown
Simplex
Unknown
CNTNAP2
lee_17_ASD/DD/ID/MCA_discovery_cases-case29
Unknown
CNTNAP2
lesca_12_EP_discovery_cases-case12-522
qPCR
Maternal
Unknown
Unknown
CNTNAP2
lintas_17_ASD_discovery_cases-case18.2
Validation by visual inspection, RT-PCR, or PCR
De novo
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
CNTNAP2
maini_18_ASD/DD/ID_discovery_cases-case221
Maternal
Simplex
Unknown
CNTNAP2
maini_18_ASD/DD/ID_discovery_cases-case46
Maternal
Not simplex
Unknown
CNTNAP2
maini_18_ASD/DD/ID_discovery_cases-case_unknown196
Maternal
Unknown
Unknown
RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,OR2A20P,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,OR2A42,TCAF2
mikhail_11_DD/ID_discovery_cases-patient5
FISH
Unknown (not maternal)
Unknown
Unknown
CNTNAP2
newbury_12_ASD/CAS_discovery_cases-case1
Unknown
Simplex
Unknown (common in DGV)
OR2A20P,ARHGEF35,OR2A42
nord_11_ASD_discovery_cases-255-1
Paternal
CNTNAP2
nord_11_ASD_discovery_cases-315-1
Maternal
0 genes
Decreased CNTNAP2 expression
pinto_10_ASD_discovery_cases-case3018_003
qPCR-Maternal
maternal
Multiplex
Not segregated
CNTNAP2
pinto_10_ASD_discovery_cases-case5006_3
Agilent1M
paternal
NA
NA
CNTNAP2
pinto_10_ASD_discovery_cases-case5056_4
Agilent1M
maternal
Multiplex
NA
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,TCAF2
pinto_10_ASD_discovery_cases-case5368_3
Agilent1M
paternal
NA
NA
CNTNAP2
pinto_10_ASD_discovery_cases-case6266_3
qPCR-Maternal
maternal
Multiplex (sib with ADHD)
Segregated (ADHD sib has CNV)
CNTNAP2
pinto_10_ASD_discovery_cases-case6320_4
qPCR-Maternal
maternal
NA
NA
CNTNAP2
poultney_13_ASD_discovery_cases-case04HI2994A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NOBOX
prasad_12_ASD_discovery_cases-case103019L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case132199L
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case142068L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case162729
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47371
Unknown
Unknown
Unknown
FAM115C,FAM115A,OR2A12,LOC154761,CTAGE6P,CTAGE15P,OR2A25,OR2A2,OR2A5,OR2F1,OR2F2,OR2A14,OR6B1
prasad_12_ASD_discovery_cases-case90278
Unknown
Unknown
Unknown
CNTNAP2
ranieri_22_ASD_discovery_cases-case1
Paternal
Simplex
MIR548F4,DUTP3,RANP2,CNTNAP2-AS1,CNTNAP2
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases-case1
qPCR, Sanger sequencing
Both parents
Multiplex
Segregated
CNTNAP2
rodenas-cuadrado_16_ASD/ID/EP_discovery_cases-case2
qPCR, Sanger sequencing
Both parents
Multiplex
Segregated
CNTNAP2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1124-0
Not tested by qPCR
Unknown
Unknown
Unknown
OR2A9P,OR2A1,ARHGEF34P,ARHGEF5,OR2A1-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1428-0
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,CTAGE15,TCAF2P1,TCAF1,TCAF2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1546-0
qPCR
De novo
Unknown
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,CTAGE15,TCAF2P1,TCAF1,TCAF2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-105
Not tested by qPCR
Unknown
Unknown
Unknown
OR2A20P,CTAGE8,OR2A9P,OR2A1,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,OR2A1-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-245
Not tested by qPCR
Unknown
Unknown
Unknown
OR2A20P,CTAGE8,OR2A9P,OR2A1,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,OR2A1-AS1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-072
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1
sanders_11_ASD_discovery_cases-11371.p1
Paternal
Simplex (trio)
NA
CNTNAP2
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
CNTNAP2
sanders_11_ASD_discovery_cases-12053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12071.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12575.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CNTNAP2
sanders_11_ASD_discovery_cases-12805.p1
Paternal
Simplex (trio)
NA
CNTNAP2
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CNTNAP2
sansovic_17_DD/ID/ASD_discovery_cases-case71
Unknown
CNTNAP2
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC13
Maternal
CNTNAP2
smogavec_16_ID/EP_discovery_cases-case2
MLPA, FISH
Paternal
Simplex
RN7SKP174,EI24P4,RPL7P59,DPY19L4P2,TPK1,CNTNAP2
smogavec_16_ID/EP_discovery_cases-case3
Maternal
Simplex
CNTNAP2
smogavec_16_ID/EP_discovery_cases-case4
Paternal
Multiplex
MIR548F4,CNTNAP2
smogavec_16_ID/EP_discovery_cases-case5
Paternal
Multiplex
MIR548F4,CNTNAP2
smogavec_16_ID/EP_discovery_cases-case6
Possibly maternal
Paternal
Possible multi-generational
Unknown
CNTNAP2
smogavec_16_ID/EP_discovery_cases-case6
Possibly maternal
Maternal
Possible multi-generational
Possibly segregated
DUTP3,RANP2,MIR548F4,CNTNAP2
soueid_16_ASD_discovery_cases-caseCLIN19
Maternal
Multiplex
CNTNAP2
streata_22_ASD/DD/ID_discovery_cases-case194
Unknown
CNTNAP2
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
OR2A20P,CTAGE8,OR2A9P,OR2A1,ARHGEF35,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,OR2A1-AS1
watson_14_ID/EP_discovery_cases-patient_II:5
Both parents
Multi-generational
Segregated
CNTNAP2
watson_14_ID/EP_discovery_cases-patient_III:4
Breakpoint PCR
Both parents
Multi-generational
Segregated
CNTNAP2
watson_14_ID/EP_discovery_cases-patient_III:5
Breakpoint PCR
Both parents
Multi-generational
Segregated
CNTNAP2
yin_16_ASD_discovery_cases-case286
Unknown
Unknown
Unknown
OR10AC1,EPHA1-AS1
yin_16_ASD_discovery_cases-case287
Unknown
Unknown
Unknown
OR10AC1,EPHA1-AS1
yin_16_ASD_discovery_cases-case288
Unknown
Unknown
Unknown
OR10AC1,EPHA1-AS1
yin_16_ASD_discovery_cases-case289
Unknown
Unknown
Unknown
DPY19L4P2,CNTNAP2
yin_16_ASD_discovery_cases-case290
Unknown
Unknown
Unknown
DUTP3,CNTNAP2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1362-003
RT-qPCR or WGS
Maternal
CNTNAP2
null
zhou_19_ASD_discovery_cases-caseAU037803
qPCR
De novo
CNTNAP2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB495530_1007854186
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlB614568_1007871710
Unknown
RNU6-267P,CTAGE6,PAICSP6,OR2F2,OR2Q1P,SLC16A1P1,OR6B1,OR2A5,OR2A25,OR2A41P,OR2A2,OR2A15P,OR2A13P,OR2A3P,OR2AO1P,CTAGE4,TCAF2P1,TCAF1,OR2F1,OR2A12,OR2A14,ARHGEF35,TCAF2
engchuan_15_ASD_discovery_controls-controlB653074_1007854147
Unknown
RNU6-162P,TCAF1P1,TCAF2C,RNU6-267P,CTAGE6,PAICSP6,CTAGE15,TCAF2P1,TCAF2
engchuan_15_ASD_discovery_controls-controlB653212_1007874323
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
Unknown
DPY19L4P2
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlB748118_1007874904
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
Unknown
TCAF2C,RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1,TCAF2
engchuan_15_ASD_discovery_controls-controlB968884_1007842426
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlB974346_1007875852
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlHABC_901062_901062
Unknown
CNTNAP2
engchuan_15_ASD_discovery_controls-controlHABC_901205_901205
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902542_902542
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
engchuan_15_ASD_discovery_controls-controlHABC_902586_902586
Unknown
RNU6-267P,CTAGE6,PAICSP6,TCAF2P1,TCAF1
engchuan_15_ASD_discovery_controls-controlHABC_902633_902633
Unknown
CNTNAP2
krumm_15_ASD_discovery_controls-control13653.s1
Omni2.5-4v1
Maternal
CNTNAP2
kushima_18_ASD/SCZ_discovery_controls-controlCON0148
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
CNTNAP2
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0148
qRT-PCR
Unknown
CNTNAP2
nord_11_ASD_discovery_controls-04C28230
0 genes
poultney_13_ASD_discovery_controls-control04C36635A
Unknown
OR2A20P,CTAGE8,OR2A9P,OR2A1,OR2A42,OR2A7,ARHGEF34P,ARHGEF5,OR2A1-AS1
sanders_11_ASD_discovery_controls-11440.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12053.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12210.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Maternal
Simplex (quad)
NA
CNTNAP2
sanders_11_ASD_discovery_controls-12575.s1
Maternal
Simplex (quad)
NA
CNTNAP2
sanders_11_ASD_discovery_controls-12859.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available