Xp22.33CNV Type: Deletion-Duplication
Largest CNV size: 471000 bp
Statistics Box:
Number of Reports: 46
Number of Reports: 46
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 variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion-Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
Autism in two females with duplications involving Xp11.22-p11.23.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Duplication
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
1040206
0
1
1
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
181765
0
4
4
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
449766
0
1
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
384953
0
1
1
ben-david_11_ASD_discovery_cases
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
17
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
70.59% Male
171000
0
1
1
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases
Individuals with CNVs affecting the 12p11.22 locus containing at least one ASD candidate gene (from an initial cohort of 7 individuals with 12p11.23-p11.21 CNVs).
2
Both cases presented with developmental delay and intellectual disability; one case also presented with autism, while the another presented with ADHD.
Range, 4-11 yrs.
50% Male
1049000
0
1
1
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
338477
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
45959
0
9
9
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
520000
0
1
1
edens_11_ASD_discovery_cases
Two female ASD probands with medically refractory epilepsy and severe intellectual disability (ID)
2
ASD. Diagnosis based on Modified Checklist for Autism in Spanish & Autism Diagnostic Interview-Revised (ADI-R) (n=1), or Autism Diagnostic Observation Schedule (ADOS) & Social Communication Questionnaire (n=1)
Range, 3-14 yrs.
0% Male
450000
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
486231
2
10
12
firouzabadi_16_ASD_discovery_cases
Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
15
ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
N/A
N/A
270000
0
1
1
ghasemi_firouzabadi_16_ASD_discovery_cases
Sporadic Iranian ASD cases with no family history of ASD
50
Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features
N/A
N/A
N/A
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1185455
1
1
2
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
120
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
3642827
9
21
30
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
31666
0
1
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
15440
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1391967
2
0
2
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
2008800
0
1
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
658000
0
2
2
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
34701
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
1800000
1
2
3
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
3720000
1
0
1
martucci_23_ASD_discovery_cases
Children with ASD recruited between February 2016 and August 2021 at the Child Neuropsychiatry Unit of Umberto I Hospital, Sapienza University
130
Cases clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS
Mean age, 3.4 yrs. (range, 2-6 yrs)
83.85% Male
548170
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
471000
0
2
2
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
36000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
523000
0
2
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
477371
2
0
2
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
15100
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
102412
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
276006
9
7
16
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
834554
0
1
1
rasmussen_16_17q12CNV_discovery_cases
38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006
38
Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development
39.47% Male
421728
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
700338
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
189030
10
6
16
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
2462068
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
598000
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
346687
0
1
1
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
462000
0
1
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
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
577100
0
1
1
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
638873
0
2
2
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
1353879
1
44
45
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
488024
0
3
3
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
84430
1
0
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
3000000
2
3
5
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
212600
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
381485
0
13
13
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1185455
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
44456
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
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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)
276006
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.
102411
9
2
11
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
tropeano_16_ASD/NDD_replication_controls
Population-based controls, including 11589 individuals whose microarray data analyzed at the Centre for Applied Genetics (TCAG, Toronto, Canada) and 1005 controls from Population Diagnostics (PDx, Melville, USA)
12594
Control
N/A
45.09% Male
819069
4
16
20
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
212600
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
ben-david_11_ASD_discovery_cases
Array SNP
Affymetrix 6.0
Canary, PennCNV
Affymetrix Genotyping Console
MLPA
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases
Argentina, Portugal
aCGH
Agilent 244K
ADM-2
Agilent Feature Extraction v.9.0, Agilent CGH analytics v.3.4.
None
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
edens_11_ASD_discovery_cases
1 Honduran/Hispanic, 1 Austrian/European
CMA
N/A
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
firouzabadi_16_ASD_discovery_cases
Iranian
aCGH
BlueGnome CytoChip ISCA 8x60K v2.0
BlueFuse Multi v3
None
ghasemi_firouzabadi_16_ASD_discovery_cases
Iranian
MLPA
MLPA P036, P070, P343, and P396 kits
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
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
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
martucci_23_ASD_discovery_cases
Italy
Array SNP
Affymetrix Genome-Wide Human 6.0
Affymetrix ChAS v.4.0
RT-PCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
rasmussen_16_17q12CNV_discovery_cases
Denmark
aCGH, array SNP, solid phase hybridization
Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
None
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
stobbe_13_ASD_discovery_cases
N/A
aCGH
NimbleGen CGX-3v1.0
ADM-1
NimbleScan 2.5, DNA Analytics 4.0
None
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
None
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
aCGH
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
tropeano_16_ASD/NDD_replication_controls
United States and Canada, 79% European ancestry
aCGH, array SNP
Affymetrix SNP 6.0, Agilent 1 M
ADM-2
Birdsuite, iPattern, Affymetrix Genotyping Console, DNA Analytics v4.0.85, and DNAcopy
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00087
N/A
M
Developmental delay
Global developmental delay, dysmorphic features with microcephaly. Non-consanguineous parents. Mother not tested.
Global developmental delay
859189
1741237
882049
GRCh38
Duplication
No
alayadhi_16_ASD_discovery_cases-caseAUT10-1
N/A
M
Autism
CARS score of 36.0; Social Responsiveness Scale (SRS) score of 76; Sensory profile score of 141.
537126
718891
181766
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT10-2
N/A
M
Autism
CARS score of 33.0; Social Responsiveness Scale (SRS) score of 77; Sensory profile score of 136.
537126
718891
181766
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT8-1
N/A
M
Autism
CARS score of 43.0; Social Responsiveness Scale (SRS) score of 77; Sensory profile score N/A.
516687
624390
107704
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT8-2
N/A
M
Autism
CARS score of 40.0; Social Responsiveness Scale (SRS) score of 70; Sensory profile score N/A.
516687
624390
107704
GRCh38
Duplication
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
20 yrs.
M
ASD and developmental delay
ASD, speech and language delay
No learning disability
2691700
3141465
449766
GRCh38
Duplication
Yes
annunziata_21_ASD_discovery_cases-caseIB262
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
293013
677965
384953
GRCh38
Duplication
Yes
ben-david_11_ASD_discovery_cases-proband10
NA
NA
ASD
NA
NA
109805
281199
171000
Unknown
Duplication
Yes
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases-case6
11 yrs.
F
ADHD, developmental delay, and intellectual disability
Alternate patient ID DCP370033. Developmental delay, langauge/speech delay with speech articulation difficulties, hand/finger/feet/toe anomalies (large thumb, shortening of the 4th and 5th metacarpals and metatarsals, tapering fingers, short toes, short 4th metatarsal bone), behavioral problems (temper tantrums, short attention span, easy distractibility), ADHD, delayed ability to walk (22 months), recurrent headaches, obesity. Patient was of Portuguese ethnicity, her father has some learning difficulties and similar foot abnormalities, two paternal uncles have more severe learning disabilities, one younger sister has a unilateral third finger brachydactyly.
Mild intellectual disability, learning disability
259698
1308697
1049000
GRCh38
Duplication
No
calderoni_20_ASD_discovery_cases-caseP29
4 yrs. 5 mos.
F
ASD
Language and communication evaluation: speech delay/absent speech.
IQ 70
621068
959544
338477
GRCh38
Duplication
Yes
chehbani_22_ASD_discovery_cases-case15
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1629414
16638
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case16
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1629414
16638
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case2
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with developmental regression.
1612777
1646152
33376
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case47
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1636893
24117
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case49
NA
F
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1618921
1664879
45959
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case59
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1627869
15093
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case6
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1629414
16638
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case70
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1629414
16638
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case71
NA
NA
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
1612777
1629414
16638
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_301185
N/A
M
Developmental delay/intellectual disability
1037373
1399366
361994
GRCh38
Duplication
No
edens_11_ASD_discovery_cases-case1
14 yrs.
F
ASD
Abnormal scores on Modified Checklist for Autism in Toddlers in Spanish & ADI-R. Social Communication Questionnaire-Spanish & Developmental Assessment of Young Children evaluations: at or below developmental quotient of 23 (range 10-23) with age equivalents at or below 43 mos. (range 18-43 mos). Developmental milestones: severe speech delay (at 14 yrs., usage of 10-20 single words or two-word phrases), motor delay (walked at 3 yrs.). Epilepsy (tonic-clonic seizures with focal and generalized onset started at 7 mos.; seizures currently well-controlled with valproate & topiamate). Neurological characteristics: aloofness, repetitive page-flipping. EEG: previously abnormal (two distinct wave patterns of isolated or 2-3 Hz bursts of irregular spike-wave complexes); EEG recently normalized. Brain MRI: right mesio-temporal sclerosis, cortical dysplasia. Other: no cranial nerve, cerebellar, motor, or sensory deficits. Dysmorphic features: broad face, midface hypoplasia, prominent forehead, widely spaced eyes, coarse facial features, eczema. Growth parameters: height, 139.5 cm (<3rd %ile); weight, 66 kg (90th %ile); head circumference, 55.5 cm (75th %ile).
Severe intellectual disability (ID)
NA
NA
450000
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case13017_223
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2809269
3114013
304745
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20088_1387001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2884527
3370758
486232
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2295_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3041075
3235433
194359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3065_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3123_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3472_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3606_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4197_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3041075
3235433
194359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4255_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4281_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4443_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3202739
3249061
46323
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5387_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2782116
2884527
102412
GRCh38
Duplication
No
firouzabadi_16_ASD_discovery_cases-patient6
13 yrs.
M
ASD
Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: gastrointestinal problems. Dysmorphic features: dysmorphic facial features.
Intellectual disability
1208695
1478975
270281
GRCh38
Duplication
No
ghasemi_firouzabadi_16_ASD_discovery_cases-p32
13 yrs.
M
ASD
Dysmorphic facial features, gastrointestinal problems
Intellectual disability
N/A
N/A
N/A
Unknown
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case27819
3.5 yrs.
M
MCA
Normal tone. Bilateral hearing loss. Dysmorphic features: overfolded superior helices, epicanthal folds, grey sclera, narrow palate. Congenital anomalies: Langer mesomelic dysplasia with Madelung deformity. Growth parameters: height <3rd %ile, OFC normal. Family history: mother has Madelung deformity; father has Leri-Weill dyschondrosteosis.
NA
912865
1387756
474892
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case28231
18 yrs.
F
MCA
Congenital anomalies: MRKH syndrome, polycystic kidneys. All other measures not specified.
NA
369005
1356302
987298
GRCh38
Duplication
Yes
husson_20_ASD_discovery_cases-case407
6 yrs.
M
ASD
Diagnosis of ASD
1633168
1633287
120
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000007
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
937335
1308697
371363
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000378
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
868396
857718
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000391
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1112022
1275096
163075
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001143
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
803222
792544
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001572
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2782275
2904175
121901
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001744
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
537125
1116923
579799
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001803
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
404594
631152
226559
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001830
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
413881
843100
429220
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002041
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
483809
884538
400730
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002227
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
26102
3730888
3704787
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002261
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1352986
2308701
955716
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002277
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17245
127157
109912
NCBI36
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002368
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
518527
621127
102601
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
537126
718891
181766
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002531
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2960878
3567038
606161
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003931
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
803178
953090
149913
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003941
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2777300
2877956
100657
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004134
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2777300
2877956
100657
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004208
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
314203
820565
506363
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004467
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
3551518
3540840
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004477
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1520382
1863771
343390
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004779
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2444467
2970550
526084
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
371393
1339321
967929
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004966
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
644560
1112081
467522
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004979
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2777300
2877956
100657
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004987
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2777300
2877956
100657
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005185
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1729621
1947725
218105
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005195
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2790845
2877956
87112
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005248
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
937335
1264950
327616
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005322
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
1633117
1622439
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13196.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3080890
3112556
31667
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1193
44 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 20 years of age (core symptoms include delusions, hallucinations, cenesthopathy, compulsive behaviors). Family history: positive.
IQ > 70
621471
636910
15440
GRCh38
Deletion
N/A
kushima_22_BPD_discovery_cases-caseBD0771
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
658415
784425
126011
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0827
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
10000
1401966
1391967
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400559
N/A
M
ASD
Diagnosis of Asperger syndrome. Behavioral/psychiatric evaluation: sleep disturbance.
Full-scale IQ 92, performance IQ 92, verbal IQ 92
284183
2291608
2007426
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-case017a
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 79, performance IQ 83 (at 10 years of age)
563645
691501
127857
GRCh38
Duplication
No
lesca_12_EP_discovery_cases-caseEB86
NA
M
Epilepsy
Phenotype: LKS-woESES. Seizure Characteristics: Awake, atypical absences. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes. IQ of 74 (at 7 years of age).
757324
1216959
459636
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
694636
729336
34701
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown231
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)
849074
1158987
309914
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown232
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)
11329
1838982
1827654
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown233
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)
1947688
2425536
477849
GRCh38
Duplication
No
mak_17_ASD_discovery_cases-case3
32 mos.
F
ASD and developmental delay
Global developmental delay, short stature, ASD
335784
4103179
3767396
GRCh38
Deletion
No
martucci_23_ASD_discovery_cases-case8
M
ASD
Case clinically diagnosed with ASD according to DSM-5 criteria and supported by ADI and ADOS. ADOS score: moderate. Language and communication evaluation: non-verbal. EEG: negative. Family history: autistic brother.
DQ/IQ score <50.
578512
1126681
548170
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case5601
NA
ASD
NA
NA
2748000
2952000
204000
Unknown
Duplication
No
morrow_08_ASD_discovery_cases-case6301
NA
ASD
NA
NA
2551000
3022000
471000
Unknown
Duplication
No
napoli_17_ASD_discovery_cases-case6
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
1601689
1646152
44464
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1006Proband10007
N/A
F
ASD
Additional clinical profile info N/A
ID
1007787
1332269
324483
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam587Proband10722
N/A
M
ASD
Additional clinical profile info N/A
ID
1627957
1664505
36549
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
77270
161182
83912
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429
N/A
F
DD/ID/MCA
Database: Signature. Indication for study: Te Fistula
10001
517337
507337
GRCh38
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case288
5 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: speech delay, dolichocephaly
1612778
1627869
15092
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5387_3
NA
M
ASD
NA
NA
2782116
2884527
102412
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case101121L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2019039
2184946
165908
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case114961L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2290478
2313952
23475
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case125391
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2440161
2543293
103133
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case131698
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2302992
2307482
4491
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case143178
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2239268
2262996
23729
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case143178
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2282899
2289078
6180
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154267L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2128189
2390326
262138
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case32794
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2019039
2184946
165908
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47029
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2302992
2307482
4491
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51674
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1619547
1628231
8685
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case52401
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2288678
2313952
25275
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case54089
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2382384
2385428
3045
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57224L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2382384
2385428
3045
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62227L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2014899
2290904
276006
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case64374L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1683684
1686394
2711
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72085
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
2319097
2325935
6839
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_553
9 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
606447
1282842
676396
GRCh38
Duplication
No
rasmussen_16_17q12CNV_discovery_cases-dup12.1
1 yr.
F
Epilepsy
Birth/neonatal history: gestational age 41+1; birth weight 4460 g (roughly +2 SD), length 56 cm (roughly +3 SD), OFC 37 cm (roughly +2 SD). Developmental milestones: normal motor milestones (sitting at 6 months, crawling at 5 months); normal language development thus far. Behavioral/psychiatric evaluation: hyperactivity. Epilepsy/seizures: complex partial epilepsy with secondary generalization from age of 2 months. Brain imaging: normal CT at 10 months, normal MRI at 1 year. Additional medical history: kidney ultrasound at 1 year showed right duplex collecting system; dysphagia. Dysmorphic features: bilateral epicanthus. Growth parameters: weight of 10.2 kg (roughly M), height of 79 cm (roughly +2 SD), and OFC of 46 cm (roughly M) at 1 year.
470230
891958
421728
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case27668
NA
NA
ASD
NA
NA
1693892
2394230
700338
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11173.p1
10.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 71; verbal IQ 49
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11464.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
4320463
4336774
16312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11716.p1
16.2
M
Autism
NA
Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
4320463
4330618
10156
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
2903409
2904560
1152
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12076.p1
9.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 98
2782116
2896119
114004
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
2782116
2904212
122097
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
2903409
2907362
3954
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12211.p1
6.2
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
3300311
3306419
6109
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
2782116
2895246
113131
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12385.p1
13.6
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12561.p1
5.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
2782116
2896119
114004
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
4320463
4328184
7722
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
4320463
4363393
42931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
3067252
3256282
189031
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT28
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with developmental delay and joint laxity.
278228
2740295
2462068
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case72
1 yr.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability
3395900
3993880
597981
GRCh38
Deletion
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC14
NA
M
Intellectual disability
Aggressive behavior, Chiari I malformation, mild skull base abnormality.
Intellectual disability, learning disorder
600791
947477
346687
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseBAK45
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
1722498
2385281
662784
GRCh38
Duplication
No
stobbe_13_ASD_discovery_cases-case24
23 yrs.
F
Autism, ID, and epilepsy
Preauricular tag, uterine didelphys, scoliosis. Negative family history. Karyotype and Fragile X testing: not performed.
Intellectual disability
946904
1325847
378944
GRCh38
Duplication
No
tropeano_13_DD/ASD_discovery_cases-case38
9 yrs.
M
ASD
ASD, Asperger syndrome
659532
1158987
499456
GRCh38
Triplication
No
tropeano_16_ASD/NDD_replication_cases-case1
< 2 years
F
Motor delay
Intrauterine growth restriction (IUGR), premature birth (30 weeks + 6 days), Motor delay, not able to sit or roll over, Large anterior fontanel, Flat nasal bridge, Small ears, other dysmorphic features, Caf au lait spots on right knee
11090
1196831
1185742
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case13
4- 10 years
F
Developmental delay and intellectual disability
Food fads/compulsion, Delayed (atypical) cognitive development, Speech & language development disorder, Learning difficulties, Reading /spelling development disorder, Arithmetic development disorder, some repetitive behaviors, Syndactyly toes 2-3, Blond hair
Delayed (atypical) cognitive development, learning disabilties
252397
657301
404905
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case14
< 4 years
F
Developmental delay and epilepsy
Developmental delay
253124
698632
445509
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case15
20- 26 years
F
Learning disability
Learning disability, depression, micrognathia, bulbous nose
Learning disability
270843
647030
376188
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case16
10- 16 years
M
Developmental delay and epilepsy
Macrocephaly, developmental delay, Epilepsy, physical dysmorphism
1116864
1570717
453854
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_cases-case2
< 3 years
F
Developmental delay and intellectual disability
Delayed dental eruption, Delayed (atypical) cognitive development, Developmental delay, Motor skills development disorder, Speech & language development disorder, Hypotonia, Hypermobility, Deep set eyes, Small nose, Thin upper lip, Clinodactyly, Mottled skin
Delayed (atypical) cognitive development
11090
1296076
1284987
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case23
4- 10 years
M
Developmental delay
Global developmental delay
335747
772798
437052
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case25
< 2 years
F
Epilepsy
Feeding intolerance, Seizures, Hypotonia, Vision impairment, Micrognathia, Nasal stenosis, Bilateral coloboma, Multiple congenital anomalies, Hypocalcemia. Family history: Family history of Down syndrome
369139
1028654
659516
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case29
< 3 years
F
Motor delay
Delayed motor development (not independently walking at 25 months), unstable gait, Low muscle tone, Hypermobile joints (lower limbs more than upper limbs). Family history: Father, paternal sisters and one brother all have knee complaints.
381281
1133767
752487
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case30
4- 10 years
F
ASD and ADHD
Asperger's syndrome, ADHD, Sleep problems, Recurrent nosebleeds. Family history: Father has behavioural problems, and paternal half-sister (mother) son has ADHD
381281
1156500
775220
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case31
< 3 years
F
Developmental delay and structural brain abnormality
Developmental delay, Brain abnormality on MRI, Nystagmus, Congenital heart defects
388994
638729
249736
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case32
10- 16 years
F
Developmental delay
Developmental delay
391777
635396
243620
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case34
4- 10 years
M
Developmental delay
Developmental delay, autistic features
391777
635396
243620
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case35
10- 16 years
F
Developmental delay and structural brain abnormality
Developmental delay, cerebellar atrophy
391777
635396
243620
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case36
4- 10 years
M
ASD and developmental delay
Developmental delay, ASD
391777
635396
243620
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case39
4- 10 years
F
Developmental delay
Developmental delay, Dysmorphic Features
391777
635396
243620
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case42
6- 10 years
F
ASD, developmental delay and intellectual disability
Intellectual disability, developmental delay, gross motor delay, fine motor delay, Speech delay, Selective mutism, ASD, Anxiety, Outer ear abnormality (unfolded helix). Family history: Mother and maternal grandmother have anxiety; Paternal uncle described as late talking and "quiet".
Intellectual disability
421741
754521
332781
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case43
4- 10 years
F
ADHD
Learning difficulties, ADHD
Learning difficulties
426565
657301
230737
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case44
< 2 years
F
Microcephaly and MCA
Borderline microcephaly, head circumference 2 SD < mean, Glaucoma, Bitemporal narrowing, Proptosis, Preaxial polydactyly (bifid thumbs bilaterally), Mitral cleft, Multiple congenital anomalies
453684
698632
244949
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case46
4- 10 years
F
ASD, developmental delay and intellectual disability
Moderate cognitive delay (IQ 35-49), Developmental delay, learning difficulties
Moderate cognitive delay (IQ 35-49)
467495
637062
169568
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case47
< 4 years
F
Developmental delay
Developmental delay
469696
831447
361752
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case48
14- 20 years
M
ASD and developmental delay
Developmental delay, Autism
469696
917061
447366
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case49
10- 16 years
F
Speech delay
Speech delay, moderate learning difficulties, sleep problems, vision impairment, hearing impairment
Moderate learning difficulties
521204
635473
114270
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case50
14- 20 years
F
Learning difficulties
Learning difficulties, protruding jaw, protruding eyes, dysmorphic features, Chronic venous drainage pathway of the lower limb, History of transposition of great arteries as a baby, Presented with Hodgkins lymphoma
Learning difficulties
521204
635473
114270
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case51
4- 10 years
F
ASD and motor delay
Microcephaly, Delayed motor development (walked at 2.5 years), Speech delay (first words at 4 years), Autism, Triangular face, Midfacial hypoplasia, Short palpebral fissures, Long lashes, Long nose, Short philtrum, Thin upper lip, Long fingers, Very dry skin on hands.
521204
635473
114270
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case54
< 2 years
M
Microcephaly
Microcephaly, premature birth, hypotonia
521204
697523
176320
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case56
4- 10 years
F
ASD
Autism
521204
782125
260922
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case58
4- 10 years
F
ASD, developmental delay and intellectual disability
Cognitive delay, Delay in comprehension and expressive language
Cognitive delay
521204
858508
337305
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case6
< 4 years
M
Speech delay
Speech delay, autistic traits
237394
703881
466488
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case61
54- 60 years
M
ASD, developmental delay and intellectual disability
Moderate intellectual disability, Developmental delay, Short stature, Weight for age >97th percentile, BMI 43.1, Intrauterine growth restriction (IUGR), Severe obstructive sleep apnea, Facial dysmorphism (high arched palate, short neck), Brachydactyly bilateral, Coarctation of aorta, Agenesis of testicle, Multiple nevi on torso.
Moderate intellectual disability
548658
664036
115379
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case64
< 3 years
F
Developmental delay
Developmental delay
566769
1293756
726988
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case65
4- 10 years
M
ASD and developmental delay
Premature birth, global developmental delay, autism spectrum disorder
575329
1086822
511494
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case7
< 2 years
F
Developmental delay
Developmental delay, hypotonia
237394
703881
466488
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case72
< 3 years
F
ASD, epilepsy, and developmental delay
Developmental delay, Autism, Seizures, Hypotonia
600892
754521
153630
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case73
4- 10 years
M
Developmental delay
Developmental delay
600892
1352516
751625
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case74
< 3 years
F
Developmental delay
Microcephaly, global developmental delay, absent speech
623772
858508
234737
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case76
< 4 years
F
ASD
Severe ASD
627966
1086822
458857
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case77
< 3 years
F
Motor and speech delay
Motor delay, speech and language delay, hearing impairment, Prominent forehead, Low set ears and short ear lobes, Heart disease (e.g. atrial septal defect, ventricular septal defect). Family history: father with diabetes; grandmother (paternal) had deafness; Maternal family history consistent with x-linked ichthyosis.
629899
858508
228610
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case79
< 3 years
F
Developmental delay
Global developmental delay, Microcephaly, short stature, Weight (for age) <3rd percentile, Severe gastroesophageal reflux disease (GERD), hypotonia, blindness
635337
891129
255793
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case80
< 3 years
F
Developmental delay
Developmental delay
640811
1132649
491839
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case86
< 2 years
M
Developmental delay
Global developmental delay
646405
1158987
512583
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case87
4- 10 years
F
Intellectual disability
Mild cognitive delay (IQ 50-69), Reading / spelling development disorder, Arithmetic development disorder, Possible epilepsy (age of onset >24 months)
Mild cognitive delay (IQ 50-69)
646405
1158987
512583
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case88
4- 10 years
M
ASD and intellectual disability
Intellectual disability (very low IQ), Mild language difficulties, stereotyped language and odd vocabulary reported; described as selectively mute in his early years, but made good progress since SLT and at school, Reading / spelling development disorder, Dyslexia, Arithmetic development disorder, Autism, Prominent chin, Horizontal palepral fissures. Family history: mother has family history of psychiatric disorders; Her cousin has Asperger's syndrome, and his son has ASD; Other cousin has a daughter with ADHD and ASD.
Intellectual disability (very low IQ)
646405
1158987
512583
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case89
10- 16 years
M
ASD and developmental delay
Developmental delay, severe ASD, seizures, sleep problems
649761
772798
123038
GRCh38
Duplication
Yes
tropeano_16_ASD/NDD_replication_cases-case99
4- 10 years
F
Epilepsy
Panayiotopoulos syndrome (childhood epilepsy)
589722
635473
45752
GRCh38
Deletion
No
tropeano_16_ASD_discovery_cases-MAAS12
40-49 yrs.
F
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Language and communication evaluation: no history of language delay. Behavioral/psychiatric evaluation: history of depression and anxiety symptoms; pervasive difficulties with reciprocal social communication, restricted interests and repetitive behaviors (motor mannerisms) since early childhood, scored above cut-off for autism on ADOS, met ICD-10 diagnostic criteria for autism. Growth parameters: height 159.5 cm (25th-50th %ile).
325789
697523
371735
GRCh38
Duplication
Yes
tropeano_16_ASD_discovery_cases-MAAS14
50-59 yrs.
F
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 1 (confirmed diagnosis of ADHD). Language and communication evaluation: no history of language delay. Behavioral/psychiatric evaluation: pervasive difficulties with reciprocal social communication and restricted interests since early childhood, scored above cut-off for autism on ADOS, met ICD-10 diagnostic criteria for autism. Growth parameters: height 166.4 cm (50th-75th %ile).
325789
813813
488025
GRCh38
Duplication
Yes
tropeano_16_ASD_discovery_cases-MAAS21
30-39 yrs.
F
ASD
Case diagnosed with Asperger's syndrome based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.
1196622
1674646
478025
GRCh38
Duplication
Yes
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)
17768
102197
84430
NCBI36
Homozygous deletion
No
willemsen_12_DD/ID_discovery_cases-case1
M
Intellectual disability
Chondroplasia punctata
Intellectual disability
320651
3281959
2961309
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case2
M
Multiple congenital anomalies
MCA (skeletal)
283333
1901107
1617775
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case35
F
Intellectual disability
Acoustic canal atresia, multiple congenital anomalies (MCA)
Intellectual disability
303333
2481959
2178627
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case36
F
Intellectual disability
Intellectual disability
Intellectual disability
1661107
3421959
1760853
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case37
M
Multiple congenital anomalies
MCA
1901107
3251959
1350853
GRCh38
Duplication
No
wintle_10_ASD_discovery_cases-AN14829
26
F
Autism
Suspected autism
2353258
2565902
212645
GRCh38
Duplication
No
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-control110036019271_
N/A
N/A
Control
No previous psychiatric history
3656756
3734876
78121
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020337_
N/A
N/A
Control
No previous psychiatric history
2782116
2895246
113131
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022572_
N/A
N/A
Control
No previous psychiatric history
3041075
3237100
196026
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
N/A
N/A
Control
No previous psychiatric history
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
N/A
N/A
Control
No previous psychiatric history
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB551574_1007873713
N/A
N/A
Control
No previous psychiatric history
3041075
3235433
194359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
N/A
N/A
Control
No previous psychiatric history
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB803589_1007875376
N/A
N/A
Control
No previous psychiatric history
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB973477_1007842438
N/A
N/A
Control
No previous psychiatric history
3051711
3237100
185390
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
N/A
N/A
Control
No previous psychiatric history
2782116
2884527
102412
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900664_900664
N/A
N/A
Control
No previous psychiatric history
2782116
3163601
381486
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902581_902581
N/A
N/A
Control
No previous psychiatric history
2782116
2895246
113131
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902861_902861
N/A
N/A
Control
No previous psychiatric history
3509030
3746033
237004
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11788.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3068100
3112556
44457
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
2782116
2884527
102412
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11901.s1
7.5
F
Control (matched sibling)
NA
NA
3728376
3746033
17658
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
4320463
4330618
10156
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
3306419
3310055
3637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12211.s1
11.2
F
Control (matched sibling)
NA
NA
3300311
3306419
6109
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
2782116
2884527
102412
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
4326634
4361359
34726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
4328009
4361359
33351
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12661.s1
11.2
F
Control (matched sibling)
NA
NA
4320463
4330618
10156
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
4320463
4363393
42931
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_controls-control1
N/A
F
Control
Control cohort: Starr County Diabetes study
285772
704670
418899
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control10
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
439373
686815
247443
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control12
N/A
F
Control
Control cohort: POPGEN
490259
809468
319210
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control15
N/A
F
Control
Control cohort: POPGEN
519852
642009
122158
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control16
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
537900
722126
184227
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control17
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
537900
722126
184227
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control18
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
543619
959750
416132
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control19
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
552634
741478
188845
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control20
N/A
F
Control
Control cohort: Starr County Diabetes study
554276
1060773
506498
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control21
N/A
F
Control
Control cohort: Population Diagnostics (PDx)
563645
630203
66559
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control22
N/A
F
Control
Control cohort: HapMap (Phase 3) controls
587305
686815
99511
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control23
N/A
F
Control
Control cohort: Ottawa Heart Institute controls
621450
741478
120029
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control24
N/A
F
Control
Control cohort: Population Diagnostics (PDx)
634997
710803
75807
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control25
N/A
F
Control
Control cohort: Starr County Diabetes study
654010
704670
50661
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control26
N/A
F
Control
Control cohort: Starr County Diabetes study
285772
1060773
775002
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_controls-control27
N/A
F
Control
Control cohort: Geneva NHS/HPFS Diabetes study
372540
876695
504156
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_controls-control28
N/A
F
Control
Control cohort: Population Diagnostics (PDx)
478115
891616
413502
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_controls-control31
N/A
F
Control
Control cohort: Ottawa Heart Institute controls
642009
721514
79506
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_controls-control7
N/A
F
Control
Control cohort: Population Diagnostics (PDx)
371861
693070
321210
GRCh38
Duplication
No
tropeano_16_ASD/NDD_replication_controls-control8
N/A
F
Control
Control cohort: Population Diagnostics (PDx)
378245
655725
277481
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00087
Unknown
Unknown
Unknown
RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,ASMTL
alayadhi_16_ASD_discovery_cases-caseAUT10-1
qPCR
Maternal
Multiplex
KRT18P53,SHOX
alayadhi_16_ASD_discovery_cases-caseAUT10-2
qPCR
Maternal
Multiplex
KRT18P53,SHOX
alayadhi_16_ASD_discovery_cases-caseAUT8-1
qPCR
Maternal
Multiplex
FABP5P13,KRT18P53,SHOX
alayadhi_16_ASD_discovery_cases-caseAUT8-2
qPCR
Maternal
Multiplex
FABP5P13,KRT18P53,SHOX
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
GYG2-AS1,ARSD-AS1,RN7SL578P,CD99,GYG2,ARSD,ARSE,ARSF,XG,ARSH
annunziata_21_ASD_discovery_cases-caseIB262
qPCR, FISH
Maternal
PPP2R3B,PLCXD1,LINC00685,KRT18P53,SHOX,FABP5P13,GTPBP6
ben-david_11_ASD_discovery_cases-proband10
MLPA
Maternal
Unknown
Unknown
PPP2R3B, PLCXD1, GTPBP6
ben_mahmoud_23_ASD/ADHD/DD/ID_discovery_cases-case6
Paternal
Unknown
CSF2RA,PPP2R3B,PLCXD1,CRLF2,LINC00685,RPL14P5,MIR3690,KRT18P53,SHOX,FABP5P13,RNA5SP498,GTPBP6
calderoni_20_ASD_discovery_cases-caseP29
qPCR
De novo
SHOX
chehbani_22_ASD_discovery_cases-case15
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case16
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case2
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case47
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case49
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case59
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case6
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case70
Unknown
Simplex
ASMT
chehbani_22_ASD_discovery_cases-case71
Unknown
Simplex
ASMT
digregorio_17_DD/ID_discovery_cases-DECIPHER_301185
Maternal
MIR3690,RNA5SP498,LINC00106,CRLF2,CSF2RA,IL3RA,SLC25A6
edens_11_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
NA
engchuan_15_ASD_discovery_cases-case13017_223
Unknown
GYG2-AS1,ARSD-AS1,RN7SL578P,GYG2,ARSD,ARSE,ARSF,XG,ARSH
engchuan_15_ASD_discovery_cases-case20088_1387001
Unknown
ARSD-AS1,RN7SL578P,ASS1P4,ARSD,ARSE,ARSF,MXRA5,ARSH,LINC01546
engchuan_15_ASD_discovery_cases-case2295_1
Unknown
RN7SL578P,ARSF
engchuan_15_ASD_discovery_cases-case3065_5
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case3123_8
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case3472_3
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case3606_3
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case4197_1
Unknown
RN7SL578P,ARSF
engchuan_15_ASD_discovery_cases-case4255_1
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case4281_1
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_cases-case4443_1
Unknown
engchuan_15_ASD_discovery_cases-case5387_3
Unknown
GYG2-AS1,GYG2,XG
firouzabadi_16_ASD_discovery_cases-patient6
De novo
Simplex
Likely segregated
MIR3690,RNA5SP498,LINC00106,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMTL
ghasemi_firouzabadi_16_ASD_discovery_cases-p32
Paternal
Simplex
Unknown
SHOX
girirajan_12_ASD/DD/ID_discovery_cases-case27819
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
RPL14P5,MIR3690,RNA5SP498,CRLF2,CSF2RA,IL3RA,SLC25A6
girirajan_12_ASD/DD/ID_discovery_cases-case28231
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,PPP2R3B,CRLF2,CSF2RA,IL3RA,SHOX
husson_20_ASD_discovery_cases-case407
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
ASMT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000007
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL14P5,MIR3690,RNA5SP498,CRLF2,CSF2RA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000378
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000391
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CRLF2,CSF2RA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001143
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001572
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GYG2-AS1,GYG2,ARSD,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001744
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
KRT18P53,RPL14P5,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001803
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001830
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002041
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002227
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002261
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC00106,AKAP17A,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,ASMTL,DHRSX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002277
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002368
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FABP5P13,KRT18P53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002480
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KRT18P53,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002531
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL578P,ASS1P4,SNORA48B,ARSE,ARSF,MXRA5,ARSH,LINC01546
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003931
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003941
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG2-AS1,GYG2,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004134
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GYG2-AS1,GYG2,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004208
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,GTPBP6,PPP2R3B,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004467
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004477
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
AKAP17A,P2RY8,ASMT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004779
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,CD99,GYG2,ARSD,ARSE,DHRSX,ZBED1,CD99P1,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,PPP2R3B,CRLF2,CSF2RA,IL3RA,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004966
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL14P5,SHOX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004979
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG2-AS1,GYG2,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004987
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GYG2-AS1,GYG2,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005185
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005195
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GYG2-AS1,GYG2,XG
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005248
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL14P5,CRLF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005322
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,SHOX,ASMTL
krumm_15_ASD_discovery_cases-case13196.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ARSF
kushima_18_SCZ_discovery_cases-caseSCZ1193
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
SHOX
kushima_22_BPD_discovery_cases-caseBD0771
qRT-PCR
Unknown
SHOX
kushima_22_BPD_discovery_cases-caseBD0827
qRT-PCR
Unknown
SLC25A6,CSF2RA,PPP2R3B,PLCXD1,CRLF2,ASMTL-AS1,IL3RA,LINC00685,RPL14P5,LINC00106,MIR3690,KRT18P53,SHOX,FABP5P13,RNA5SP498,GTPBP6
leblond_19_ASD_discovery_cases-casePN400559
Paternal
Simplex
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,SHOX,ASMTL,DHRSX
lesca_12_EP_discovery_cases-case017a
Unknown
Unknown
Unknown
SHOX
lesca_12_EP_discovery_cases-caseEB86
Unknown
Unknown
Unknown
RPL14P5,CRLF2
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
maini_18_ASD/DD/ID_discovery_cases-case_unknown231
Maternal
Unknown
Unknown
RPL14P5
maini_18_ASD/DD/ID_discovery_cases-case_unknown232
De novo
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,SHOX,ASMTL
maini_18_ASD/DD/ID_discovery_cases-case_unknown233
Maternal
Unknown
Unknown
DHRSX-IT1,DHRSX
mak_17_ASD_discovery_cases-case3
Unknown (not maternal)
FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546,PRKX
martucci_23_ASD_discovery_cases-case8
RT-PCR
Maternal
Multiplex
Unknown
RPL14P5,SHOX
morrow_08_ASD_discovery_cases-case5601
Maternal
NA
NA
GYG2, ARSD, ARSE
morrow_08_ASD_discovery_cases-case6301
Maternal
NA
NA
CD99, XG, GYG2, ARSD, ARSE
napoli_17_ASD_discovery_cases-case6
RT-PCR
Maternal
AKAP17A,ASMT
nava_13_ASD_discovery_cases-Fam1006Proband10007
Paternal
Simplex
Unknown
RPL14P5,MIR3690,RNA5SP498,CRLF2,CSF2RA
nava_13_ASD_discovery_cases-Fam587Proband10722
Maternal, present in affected brother
Multiplex
Segregated
ASMT
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253606
Unknown
Unknown
Unknown
0 genes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429
FISH
Unknown
Unknown
Unknown
LINC00685,PLCXD1,GTPBP6,PPP2R3B
oikonomakis_16_ASD_discovery_cases-case288
Unknown
ASMT
pinto_10_ASD_discovery_cases-case5387_3
Agilent1M
paternal
NA
NA
GYG2-AS1,GYG2,XG
prasad_12_ASD_discovery_cases-case101121L
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case114961L
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case125391
Unknown
Unknown
Unknown
NCRNA00102,CD99P1
prasad_12_ASD_discovery_cases-case131698
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case143178
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case143178
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case154267L
Unknown
Simplex
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case32794
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case47029
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case51674
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case52401
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case54089
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case57224L
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case62227L
Unknown
Unknown
Unknown
DHRSX
prasad_12_ASD_discovery_cases-case64374L
Unknown
Unknown
Unknown
ASMT
prasad_12_ASD_discovery_cases-case72085
Unknown
Unknown
Unknown
DHRSX
quintela_17_DD/ID_discovery_cases-caseID_553
Unknown
Unknown
RPL14P5,CRLF2,CSF2RA,SHOX
rasmussen_16_17q12CNV_discovery_cases-dup12.1
Unknown
Unknown
SHOX
rosenfeld_10_ASD_discovery_cases-case27668
FISH
Unknown
Unknown
Unknown
ASMT,DHRSX
sanders_11_ASD_discovery_cases-11173.p1
Unknown
Simplex (trio)
NA
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-11464.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11716.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-11918.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11940.p1
Paternal
Simplex (quad-proband matched)
Segregated
ARSD
sanders_11_ASD_discovery_cases-12076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-12152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,ARSD,XG
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ARSD-AS1,ARSD
sanders_11_ASD_discovery_cases-12211.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12221.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-12360.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-12385.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-12561.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_cases-12661.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13021.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13196.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ARSF
sandoval_talamantes_23_ASD_discovery_cases-caseAUT28
Unknown
ASMT,SLC25A6,CSF2RA,PPP2R3B,PLCXD1,CRLF2,ASMTL-AS1,DHRSX,IL3RA,LINC00685,P2RY8,CD99P1,RPL14P5,LINC00106,CD99,LINC00102,MIR3690,MIR6089,KRT18P53,DHRSX-IT1,SHOX,FABP5P13,RNA5SP498,GTPBP6,AKAP17A,ASMTL,ZBED1
sansovic_17_DD/ID/ASD_discovery_cases-case72
De novo
SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,PRKX
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC14
Maternal
SHOX
soueid_16_ASD_discovery_cases-caseBAK45
Paternal
Simplex
DHRSX-IT1,DHRSX
stobbe_13_ASD_discovery_cases-case24
Unknown
Unknown (possible simplex)
Unknown
RPL14P5,MIR3690,RNA5SP498,CRLF2,CSF2RA
tropeano_13_DD/ASD_discovery_cases-case38
Unknown
RPL14P5
tropeano_16_ASD/NDD_replication_cases-case1
aCGH
Maternal
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,PLCXD1,GTPBP6,PPP2R3B,CRLF2,SHOX
tropeano_16_ASD/NDD_replication_cases-case13
aCGH
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case14
aCGH
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case15
aCGH
Unknown
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case16
Paternal
Unknown
Unknown
MIR3690,RNA5SP498,LINC00106,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMTL
tropeano_16_ASD/NDD_replication_cases-case2
aCGH
De Novo
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,SHOX
tropeano_16_ASD/NDD_replication_cases-case23
aCGH
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case25
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,RPL14P5,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case29
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,RPL14P5,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case30
aCGH
Possibly paternal
Paternal
Multi-generational
Possibly segregated
FABP5P13,KRT18P53,RPL14P5,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case31
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case32
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case34
aCGH
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case35
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case36
aCGH
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case39
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case42
aCGH
Unknown
Multi-generational
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case43
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case44
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case46
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case47
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case48
aCGH
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case49
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case50
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case51
aCGH
Paternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case54
aCGH
Maternal
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case56
aCGH
De novo
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case58
aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_cases-case6
aCGH
Maternal
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case61
aCGH
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case64
aCGH
Maternal
Unknown
Unknown
RPL14P5,CRLF2,CSF2RA,SHOX
tropeano_16_ASD/NDD_replication_cases-case65
aCGH
Maternal
Unknown
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case7
aCGH
Maternal
Unknown
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_cases-case72
aCGH
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case73
aCGH
Maternal
Unknown
Unknown
RPL14P5,MIR3690,RNA5SP498,CRLF2,CSF2RA,IL3RA,SHOX
tropeano_16_ASD/NDD_replication_cases-case74
aCGH
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case76
aCGH
Unknown
Unknown
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case77
aCGH
Paternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case79
aCGH
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case80
aCGH
Unknown
Unknown
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case86
aCGH
Maternal
Unknown
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case87
aCGH
Unknown
Unknown
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case88
aCGH
Possibly maternal
Maternal
Multi-generational
Possibly segregated
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_cases-case89
aCGH
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD/NDD_replication_cases-case99
Maternal
Unknown
Unknown
SHOX
tropeano_16_ASD_discovery_cases-MAAS12
MLPA or aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
tropeano_16_ASD_discovery_cases-MAAS14
MLPA or aCGH
Unknown
Unknown
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
tropeano_16_ASD_discovery_cases-MAAS21
MLPA or aCGH
Unknown
Unknown
Unknown
MIR3690,RNA5SP498,LINC00106,AKAP17A,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,ASMTL
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
0 genes
willemsen_12_DD/ID_discovery_cases-case1
Maternal
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,CD99,GYG2,ARSD,ARSE,ARSF,SHOX,ASMTL,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546
willemsen_12_DD/ID_discovery_cases-case2
Unknown (not tested)
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,SHOX,ASMTL
willemsen_12_DD/ID_discovery_cases-case35
Unknown (not tested)
LINC00685,FABP5P13,KRT18P53,RPL14P5,MIR3690,RNA5SP498,LINC00106,AKAP17A,DHRSX-IT1,PLCXD1,GTPBP6,PPP2R3B,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL-AS1,P2RY8,ASMT,SHOX,ASMTL,DHRSX
willemsen_12_DD/ID_discovery_cases-case36
Maternal
DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,ASS1P4,CD99,GYG2,ARSD,ARSE,ARSF,MXRA5,DHRSX,ZBED1,CD99P1,XG,ARSH,LINC01546
willemsen_12_DD/ID_discovery_cases-case37
Unknown (not tested)
DHRSX-IT1,MIR6089,LINC00102,GYG2-AS1,ARSD-AS1,RN7SL578P,CD99,GYG2,ARSD,ARSE,ARSF,DHRSX,ZBED1,CD99P1,XG,ARSH
wintle_10_ASD_discovery_cases-AN14829
Unknown
Unknown
Unknown
DHRSX,ZBED1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019271_
Unknown
PRKX-AS1,PRKX
engchuan_15_ASD_discovery_controls-control110036020337_
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-control110036022572_
Unknown
RN7SL578P,ARSF
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlB431282_1007873513
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlB551574_1007873713
Unknown
RN7SL578P,ARSF
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlB803589_1007875376
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlB973477_1007842438
Unknown
RN7SL578P,ARSF
engchuan_15_ASD_discovery_controls-controlHABC_900206_900206
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlHABC_900664_900664
Unknown
GYG2-AS1,ARSD-AS1,RN7SL578P,GYG2,ARSD,ARSE,ARSF,XG,ARSH
engchuan_15_ASD_discovery_controls-controlHABC_902581_902581
Unknown
GYG2-AS1,GYG2,XG
engchuan_15_ASD_discovery_controls-controlHABC_902861_902861
Unknown
SNORA48B,RNU6-114P,RNU6-146P,PRKX-AS1,PRKX
krumm_15_ASD_discovery_controls-control11788.s1
Illumina 1MDuo
Maternal
ARSF
sanders_11_ASD_discovery_controls-11045.s1
Unknown
Simplex (quad)
NA
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_controls-11716.s1
Unknown
Simplex (quad)
NA
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_controls-11901.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11918.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Paternal
Simplex (quad)
NA
MXRA5
sanders_11_ASD_discovery_controls-12211.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12561.s1
Both parents
Simplex (quad)
NA
GYG2-AS1,GYG2,XG
sanders_11_ASD_discovery_controls-12597.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12610.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12661.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
tropeano_16_ASD/NDD_replication_controls-control1
Unknown
LINC00685,FABP5P13,KRT18P53,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_controls-control10
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control12
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control15
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control16
Unknown
KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control17
Unknown
KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control18
Unknown
KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control19
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control20
Unknown
RPL14P5,SHOX
tropeano_16_ASD/NDD_replication_controls-control21
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control22
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control23
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control24
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control25
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control26
Unknown
LINC00685,FABP5P13,KRT18P53,RPL14P5,PLCXD1,GTPBP6,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_controls-control27
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_controls-control28
Unknown
FABP5P13,KRT18P53,SHOX
tropeano_16_ASD/NDD_replication_controls-control31
Unknown
SHOX
tropeano_16_ASD/NDD_replication_controls-control7
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
tropeano_16_ASD/NDD_replication_controls-control8
Unknown
FABP5P13,KRT18P53,PPP2R3B,SHOX
No Animal Model Data Available