Xp21.1CNV Type: Deletion-Duplication
Largest CNV size: 381616 bp
Statistics Box:
Number of Reports: 34
Number of Reports: 34
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Deletion
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion-Duplication
Resolving complex duplication variants in autism spectrum disorder using long-read genome sequencing
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
223612
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
203000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
49971
1
1
2
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
395669
0
1
1
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
100549
2
0
2
eisfeldt_24_ASD_discovery_cases
Probands from five families enrolled in the Autism Speaks MSSNG project investigated for complex genomic rearrangments (CGRs) involving large duplications.
5
Probands were diagnosed with autism spectrum disorder by either meeting ADI-R or ADOS criteria or by receiving a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria.
80% Male
388408
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
381615
3
6
9
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
138658
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
154237
2
0
2
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
326927
1
1
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
445444
4
2
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
340842
0
1
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
160176
2
0
2
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
141850
2
0
2
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
160177
2
0
2
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
422610
2
0
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
318745
3
1
4
lai_24_DD/ID_discovery_cases
Pediatric patients assessed at the Clinical Genetics Laboratory of the Ganzhou Maternal and Child Health Hospital who were recruited between January 2021 and December 2023.
144
Clinical manifestations observed in this cohort included global developmental delay (HP:0001263; n=46, 31.94%), intellectual disability (HP:0001249; n=44, 30.56%), seizures (HP:0001250, n = 24, 16.67%), and autistic behavior (HP:0000729; n=19, 13.19%).
Median age 4yrs. (range 0-17 yrs.)
59.03% Male
523325
1
1
2
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
10755
5
0
5
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
273000
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
15159
0
1
1
lob_24_ASD_discovery_cases
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
523
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Range, 1-18 yrs.
76.67% Male
181412
1
0
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
4545594
0
3
3
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
850000
1
2
3
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
269000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
71154
0
1
1
pagnamenta_11_ASD_discovery_cases
Two male autistic individuals from IMGSAC cohort family 3019. Affected individual 3019.3 was previously described in Pinto et al., 2010 CNV study.
2
Narrowly defined autism (ADOS)
11 yrs. 2 mo.-22 yrs. 7 mo.
Male
224733
0
2
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
381616
1
2
3
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
50131
1
0
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
387220
6
2
8
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
216888
1
0
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
81368
19
1
20
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
555433
0
1
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
81039
0
1
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
240000
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
388499
1
2
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
252413
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
13700
0
1
1
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
446390
3
7
10
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
393223
0
3
3
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
160739
3
0
3
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
160740
3
0
3
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
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)
387220
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.
62816
25
0
25
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
224157
0
1
1
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
81039
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
eisfeldt_24_ASD_discovery_cases
Canada, United States, and Sweden
Long-read genome sequencing
PromethION (Oxford Nanopore Technologies)
BCFtools
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
qPCR, Taqman assay
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lai_24_DD/ID_discovery_cases
China
WES
Illumina NovaSeq 6000
PCR or Sanger
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
lob_24_ASD_discovery_cases
United States
CMA
DMD Gene/Exon Array Dx analysis
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
Array SNP
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
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pagnamenta_11_ASD_discovery_cases
Solid phase hybridization
Illumina 1M
qPCR, FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
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
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
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case22A
0 yrs.
F
Microcephaly
Microcephaly. Deletion inherited from mother without reported clinical findings (segregation analysis).
31602720
31826331
223612
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case57650
N/A
M
Developmental delay
Developmental delay, facial dysmorphism, ptosis; no sign of muscular dystrophy, normal muscle enzymes
31670518
31873232
202715
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000697
N/A
M
ASD
Case from REACH cohort
35860234
35873933
13700
GRCh38
Duplication
No (false positive)
brandler_18_ASD_discovery_cases-caseSSC11607
N/A
M
ASD
Case from SSC_phase1 cohort
32553182
32603153
49972
GRCh38
Deletion
Yes
calderoni_20_ASD_discovery_cases-caseP25
3 yrs. 4 mos.
F
ASD
ADOS module 1 evaluation: Social Affect score 3, Restricted and Repetitive Behaviors score 1, Calibrated Severity Score 2 (below ASD cut-off). Language and communication evaluation: verbal.
IQ > 70
31875227
32270895
395669
GRCh38
Duplication
Yes
du_21_ASD/DD/ID_discovery_cases-case147
2 yrs.
M
Developmental delay
Global developmental delay, failure to thrive, hypotonia,
31719028
31741635
22608
GRCh38
Deletion
No
du_21_ASD/DD/ID_discovery_cases-case416
6 yrs.
M
Accommodative esotropia, hypermetropia, speech disturbances
31745969
31846517
100549
GRCh38
Deletion
No
eisfeldt_24_ASD_discovery_cases-caseFam3-1
M
ASD and intellectual disability
Proband diagnosed with autism spectrum disorder (met ADI-R or ADOS criteria or received a clinical diagnosis from an expert physician following DSM-IV or DSM-5 criteria). This proband also presented with borderline intellectual disability (Wechsler IQ score 83). Family history was notable for a brother diagnosed with ASD and presenting with borderline intellectual disability (Leiter IQ score 76) who also carried the maternally-inherited maternally-inherited complex genomic rearrangement (CGR); this CGR was also present with two unaffected sisters. Copy number profile for the CGR identified in this individual was duplication-normal-duplication, and HGVS annotation for the CGR was chrX:g.29570408_qterdelins[chrX:g.33038509_33426916inv;chrX:29020059_qter].
33020392
33408799
388408
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14032_600
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35842373
35923412
81040
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18088_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37364193
37675390
311198
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20032_1226001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34145419
34195549
50131
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3019_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32172580
32387899
215320
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3267_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33607705
33881328
273624
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4355_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33057861
33154004
96144
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5126_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33020939
33402554
381616
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8551_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
36591028
36621644
30617
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8571_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35488924
35519619
30696
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1607308
Autism
31903594
32042251
138658
Unknown
Hemizygous Deletion
No
gazzellone_14_ASD_discovery_cases-case567-3
6 yrs.
M
ASD
ASD, abnormal muscular development
N/A
31787533
31941770
154238
GRCh38
Deletion
Yes
gazzellone_14_ASD_discovery_cases-case611-3
5 yrs.
M
ASD
ASD, hypotonia, progressive motor impairments including difficulty walking
N/A
32529949
32584901
54953
GRCh38
Deletion
Yes
hu_22_ASD_discovery_cases-case15
NA
M
ASD
Case met criteria for ASD using DSM-5.
32216914
32217063
150
GRCh38
Deletion
No
hu_22_ASD_discovery_cases-case30
NA
F
ASD
Case met criteria for ASD using DSM-5.
32287527
32614453
326927
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001621
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31632068
31954142
322075
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32720062
32797373
77312
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002571
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32432957
32823439
390483
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004606
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31745624
31876916
131293
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004727
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31665506
32110950
445445
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004989
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32662366
32758964
96599
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11600.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31627672
31968514
340843
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0990
23 yrs.
M
ASD, ADHD, ID, epilepsy/seizures
Developmental milestones: langauge delay, motor delay. Behavioral/psychiatric evaluation: ADHD, sensory hypersensitivity, eating disorders, self-mutilation. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: Becker muscular dystrophy. Family history: negative.
Intellectual disability (IQ < 70)
32345828
32377888
32061
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD1036
24 yrs.
M
ASD, ID
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity. Congenital and developmental phenotypes: Becker muscular dystrophy. Family history: negative.
Severe intellectual disability
31660226
31820401
160176
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0750
53 yrs.
F
Schizophrenia, ID
Behavioral/psychiatric evaluation: onset of schizophrenia at 22 years of age (core symptoms include auditory hallucinations, persecutory delusions, severe emotional lability, irritability), mood symptoms. Brain imaging: mild frontal atrophy on brain CT. Physical comorbidities: diabetes mellitus, hypertension, muscle fatigue, high CPK on blood test. Family history: positive for alcohol dependence, muscular dystrophy, and developmental delay (DD)
Intellectual disability (IQ < 70)
31774439
31859356
84918
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2532
41 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
32070396
32212245
141850
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0990
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
32345827
32377888
32062
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD1036
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
31660225
31820401
160177
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0482
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
31759188
32024090
264903
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0625
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
32390427
32813036
422610
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0750
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
31774438
31859356
84919
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2532
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
32070395
32212245
141851
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2635
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
32766270
32821497
55228
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3472
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
31669607
31988351
318745
GRCh38
Deletion
Yes
lai_24_DD/ID_discovery_cases-case45
8 mos.
M
Hypotonia
Muscular hypotonia
32195795
32719119
523325
GRCh38
Duplication
Yes
lai_24_DD/ID_discovery_cases-case49
4 yrs.
M
Hypotonia
Muscular hypotonia
31673055
32134009
460955
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
7 yrs.
M
Intellectual disability
Multiple neuromuscular problems
Intellectual disability
31518752
31524222
5471
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case2
2 yrs.
M
Developmental delay
Developmental delay, dystonia, family history of hereditary spastic paraplegia
32517080
32525909
8830
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case23
14 yrs.
M
Developmental delay
Developmental delay, dystonia
31518752
31518761
10
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case30
5 yrs.
M
Developmental delay
Developmental delay, dystonia
31518752
31524218
5467
GRCh38
Deletion
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case7
5 yrs.
M
Developmental delay
Developmental delay, dystonia
32667722
32678477
10756
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case10-114
NA
M
Epilepsy + autistic features
Phenotype: s-CSWSS. Seizure Characteristics: GTCS when falling asleep. Autistic features: Yes (severe). ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: No.
30596915
30870178
273264
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case8
N/A
M
Developmental delay and epilepsy
Developmental delay, seizures
32479722
32494880
15159
GRCh38
Duplication
No
lob_24_ASD_discovery_cases-caseASD395
M
ASD and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with macrocephaly, hypotonia, plagiocephaly, calf pseudohypertrophy, global developmental delay, aggression, and sensory processing disorder.
31826330
32007741
181412
GRCh38
Deletion
Yes
mahjani_22_OCD/CTD_discovery_cases-case38
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
31823329
36368922
4545594
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case44
NA
F
OCD and chronic tic disorder
Case diagnosed with obsessive compulsive disorder (OCD) and chronic tic disorder (CTD).
33602280
34339958
737679
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case66
NA
F
OCD and chronic tic disorder
Case diagnosed with obsessive compulsive disorder (OCD) and chronic tic disorder (CTD).
33600941
34359618
758678
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530660
F
MCA
Abnormal facial shape (HP:0001999)
32633095
33183094
550000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530988
M
No phenotypic information provided
31583095
32083094
500000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530994
M
Autism, intellectual disability, and seizures
Atypical behavior (HP:0000708), autism (HP:0000717), autistic behavior (HP:0000729), poor speech (HP:0002465), seizure (HP:0001250)
Intellectual disability (HP:0001249).
33033095
33883094
850000
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam845Proband10017
16 yrs. 3 mos.
M
ASD
Developmental milestones: age of walking at 17 months. Language and communication evaluation: normal language. Neurological examination: normal. Epilepsy/seizures: none. Other features: OCD. Dysmorphic features: enophtalmia, anteverted nostrils, bulbous nose. Growth parameters: height +0.5 SD, weight -0.5 SD, head circumference +1.5 SD.
ID (mild)
31646698
31915492
268795
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-239-1
ASD
32647212
32718365
71154
Unknown
Duplication
No
pagnamenta_11_ASD_discovery_cases-case3019.3
22 yrs. 7 mo.
M
Autism
Delayed language development (first words at 30 mo., short phrases at 42 mo.); responded well to speech therapy. Articulation dyspraxia (clumsiness, poor coordination, odd head movements, body contortions); very poor gross motor control. Obsessional interests noted at 2 yrs., fear of crowds, temper tantrums. Individual was previously described in Pinto et al., 2010 CNV study.
Verbal & performance IQ (Wechsler Preschool & Primary Scale of Intelligence) at 5 yrs. 8 mo.: 87 and 76, respectively; Verbal IQ (BPVS) at 22 yrs. 7 mo.: 130
32169175
32393907
224733
GRCh38
Duplication
Yes
pagnamenta_11_ASD_discovery_cases-case3019.5
11 yrs. 2 mo.
M
Autism
General developmental delay; first words at 12 months, first phrases delayed at 60 months; sat unaided at 8 months, walked at 17 months; toilet training not fully achieved at 8 yrs when seen for diagnostic assessment; no indications of any specific motor development issues.
Moderate learning difficulties; verbal IQ (BPVS) at 11 yrs. 2 mo.: 62
32169175
32393907
224733
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case3019_003
NA
M
Autism
Articulation dyspraxia, poor coordination, odd head movements and frequent body contortions.
Normal IQ
32172580
32387899
215320
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5126_4
NA
M
Autism
Anxiety disorder, delayed language development, sat at 6 m and walked at 12 m, health history uneventful except for asthma as an infant. When last evaluated at age 10 y, no obvious muscular difficulJes were noted.
Low average IQ (5%ile)
33020939
33402554
381616
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5241_3
NA
M
Autism
Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
Low nonverbal IQ (9%ile)
31793278
31822704
29427
Unknown
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20032_1226001
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay but language testing at 7 y 2 mo gave scores significantly below overall IQ; no dysmorphic features, normal head circumference; sleep problems; no seizures. Affected brother 20032-1226021 also carries the deletion: delayed language, social difficulties but not clearly consistent with autism diagnosis; tested at age 3 y 1 m, doesn't meet criteria for autism on ADI-R (social 12, non-verbal communication 6, repetitive behavior 1, age abnormality 5) or ADOS (module 1, communication 3, social 3). Differential Ability Scales NVIQ 86, FSIQ 72. No dysmorphic features, normal head circumference and height; odd gait, poor balance; sleep problems; no seizures. Mother took fluoxetine and valproate during pregnancy. Affected sister 20032-1226022 also carries the deletion; tested at 5 y 2 mo, doesn't meet criteria for autism on ADI-R (social 9, communication 4, repetitive behavior 7, age abnormality 2) or ADOS (social 1, communication 0). Differential Ability Scales VIQ 94, NVIQ 101, FSIQ 95. No dysmorphic features, normal head circumference; sleep problems; no seizures. Mother took fluoxetine during pregnancy. Mother: ADHD, anxiety and depression. Adult SRS total 51; normal IQ (102); facial tics, apparent auditory processing difficulties; reported spelling learning disabilities; severe constipation. Mother reported family history of depression on both sides of her family, and maternal family history of OCD.
Low-average IQ (83)
34145419
34195549
50131
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100570L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
32574048
32580308
6261
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case128832
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
32949740
33336959
387220
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146449L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
36400921
36433868
32948
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50172L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33806727
33934617
127891
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59641L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
32004122
32019493
15372
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case59838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31792998
31823342
30345
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62231L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
32905207
32928210
23004
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91548L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33069644
33076560
6917
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case17307
NA
NA
ASD
NA
NA
31710856
31927744
216888
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
34036353
34050213
13861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11604.p1
17.2
F
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 23; verbal IQ 13
35063438
35074847
11410
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11616.p1
10.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
36591028
36614277
23250
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
37072442
37079280
6839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11879.p1
5.3
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
31992665
32063574
70910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11911.p1
9.9
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 79
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
36591028
36626284
35257
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
37072442
37079280
6839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12565.p1
10.6
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
34025107
34073562
48456
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
32514298
32521953
7656
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
36862111
36943479
81369
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
36591028
36620174
29147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
37072442
37079280
6839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
36591028
36614277
23250
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
36591028
36614277
23250
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13077.p1
11.4
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 109; verbal IQ, 105
37072442
37079280
6839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
34021208
34070029
48822
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_cases-case32
10- 16 years
F
Developmental delay
Developmental delay
36035489
36590965
555477
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case8-14032-600
N/A
M
ASD
N/A
N/A
35842373
35923412
81040
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case6
M
Intellectual disability
Muscular dystrophy
Mild ID
32541962
32781962
240001
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0011-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: stomatitus (2 years);otitis (several times); lactose intolerant
32643384
32655405
12022
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-0264-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
33020384
33408883
388500
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1646-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
34070384
34145883
75500
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
33016900
33269312
252413
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlREACH000700
N/A
M
Control
Control from REACH cohort
35860234
35873933
13700
GRCh38
Duplication
No (false positive)
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
N/A
N/A
Control
No previous psychiatric history
33532350
33659382
127033
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
N/A
N/A
Control
No previous psychiatric history
34047245
34133038
85794
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
37426808
37485582
58775
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
N/A
N/A
Control
No previous psychiatric history
37588695
37656964
68270
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
N/A
N/A
Control
No previous psychiatric history
31809755
31938022
128268
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900208_900208
N/A
N/A
Control
No previous psychiatric history
37364193
37675390
311198
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
N/A
N/A
Control
No previous psychiatric history
32752549
32786573
34025
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
N/A
N/A
Control
No previous psychiatric history
35327425
35402981
75557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
N/A
N/A
Control
No previous psychiatric history
33309973
33756363
446391
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902777_902777
N/A
N/A
Control
No previous psychiatric history
37426808
37512090
85283
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13531.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37453135
37846358
393224
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13556.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31773959
31968514
194556
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13763.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37453135
37667489
214355
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0268
28 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
33109913
33147502
37590
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1234
52 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
31735335
31896073
160739
GRCh38
Deletion
N/A
kushima_18_ASD/SCZ_discovery_controls-controlCON1656
42 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
32019922
32175485
155564
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0268
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
33109912
33147502
37591
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1234
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
31735334
31896073
160740
GRCh38
Deletion
Yes
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1656
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
32019921
32175485
155565
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
34036353
34060418
24066
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
34036353
34050213
13861
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11258.s1
10.8
F
Control (matched sibling)
NA
NA
34036353
34050213
13861
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
34601553
34619717
18165
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
33372032
33375052
3021
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11526.s1
7.9
F
Control (matched sibling)
NA
NA
34036353
34050213
13861
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
32514298
32521953
7656
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11616.s1
6.8
M
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11845.s1
7.5
F
Control (matched sibling)
NA
NA
31869661
31883333
13673
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
37465295
37493886
28592
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
33363132
33380574
17443
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12062.s1
7.8
F
Control (matched sibling)
NA
NA
32753484
32793769
40286
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12086.s1
25.2
M
Control (matched sibling)
NA
NA
32752549
32786573
34025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
31619579
31682395
62817
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
32507701
32525909
18209
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
32507701
32521953
14253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12512.s1
11.3
F
Control (matched sibling)
NA
NA
36591028
36610562
19535
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12628.s1
13.6
F
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
32514298
32521953
7656
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12907.s1
9.8
F
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13021.s1
7.3
F
Control (matched sibling)
NA
NA
34025107
34054217
29111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
32752549
32786573
34025
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
34020958
34054217
33260
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family6_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
33673963
33898119
224157
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case22A
Maternal
DMD
asadollahi_14_NDD_discovery_cases-case57650
MLPA
Unknown (parents N/A)
Unknown
Unknown
DMD
brandler_18_ASD_discovery_cases-caseREACH000697
SNP VCF
Unknown
brandler_18_ASD_discovery_cases-caseSSC11607
PCR or SNP data validation (SNP VCF)
De novo
MIR3915,DMD
calderoni_20_ASD_discovery_cases-caseP25
qPCR
De novo
RNA5SP501,NPM1P8,DMD
du_21_ASD/DD/ID_discovery_cases-case147
Unknown
DMD
du_21_ASD/DD/ID_discovery_cases-case416
Unknown
DMD
eisfeldt_24_ASD_discovery_cases-caseFam3-1
Maternal
Multiplex
Segregated
DMD,TBCAP1
engchuan_15_ASD_discovery_cases-case14032_600
Unknown
CFAP47
engchuan_15_ASD_discovery_cases-case18088_301
Unknown
FTH1P19,FTH1P27,FAM47DP,PRRG1,LANCL3
engchuan_15_ASD_discovery_cases-case20032_1226001
Unknown
FTH1P14
engchuan_15_ASD_discovery_cases-case3019_3
Unknown
NPM1P8,DMD
engchuan_15_ASD_discovery_cases-case3267_3
Unknown
engchuan_15_ASD_discovery_cases-case4355_1
Unknown
DMD
engchuan_15_ASD_discovery_cases-case5126_4
Unknown
TBCAP1,DMD
engchuan_15_ASD_discovery_cases-case8551_201
Unknown
engchuan_15_ASD_discovery_cases-case8571_201
Unknown
gai_11_ASD_discovery_cases-AU1607308
Inherited
DMD (intronic)
gazzellone_14_ASD_discovery_cases-case567-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
DMD
gazzellone_14_ASD_discovery_cases-case611-3
qPCR or Taqman assay
De novo
Unknown
Possibly segregated
MIR3915,DMD
hu_22_ASD_discovery_cases-case15
Unknown
DMD
hu_22_ASD_discovery_cases-case30
Unknown
DMD,MIR3915
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001621
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DMD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DMD-AS3,DMD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002571
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3915,MIR548F5,DMD-AS3,DMD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004606
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DMD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004727
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP501,DMD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004989
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DMD-AS3,DMD
krumm_15_ASD_discovery_cases-case11600.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DMD
kushima_18_ASD_discovery_cases-caseASD0990
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
DMD
kushima_18_ASD_discovery_cases-caseASD1036
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Simplex
Segregated
DMD
kushima_18_SCZ_discovery_cases-caseSCZ0750
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
DMD
kushima_18_SCZ_discovery_cases-caseSCZ2532
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
Unknown
Unknown
RNA5SP501,NPM1P8,DMD
kushima_22_ASD_discovery_cases-caseASD0990
qRT-PCR
Unknown
DMD
kushima_22_ASD_discovery_cases-caseASD1036
qRT-PCR
De novo
DMD
kushima_22_BPD_discovery_cases-caseBD0482
qRT-PCR
Unknown
DMD
kushima_22_BPD_discovery_cases-caseBD0625
qRT-PCR
Unknown
DMD,MIR548F5,MIR3915,DMD-AS3
kushima_22_SCZ_discovery_cases-caseSCZ0750
qRT-PCR
Unknown
DMD
kushima_22_SCZ_discovery_cases-caseSCZ2532
qRT-PCR
Unknown
DMD,NPM1P8,RNA5SP501
kushima_22_SCZ_discovery_cases-caseSCZ2635
qRT-PCR
Unknown
DMD
kushima_22_SCZ_discovery_cases-caseSCZ3472
qRT-PCR
Unknown
DMD
lai_24_DD/ID_discovery_cases-case45
PCR or Sanger
Unknown
DMD,NPM1P8,MIR548F5,MIR3915
lai_24_DD/ID_discovery_cases-case49
PCR or Sanger
Unknown
DMD,RNA5SP501
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
Unknown
DMD
lee_17_ASD/DD/ID/MCA_discovery_cases-case2
Unknown
DMD
lee_17_ASD/DD/ID/MCA_discovery_cases-case23
Unknown
DMD
lee_17_ASD/DD/ID/MCA_discovery_cases-case30
Unknown
DMD
lee_17_ASD/DD/ID/MCA_discovery_cases-case7
Unknown
DMD
lesca_12_EP_discovery_cases-case10-114
qPCR
Maternal
Unknown
Unknown
CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case8
Unknown
DMD
lob_24_ASD_discovery_cases-caseASD395
DMD Gene/Exon Array Dx analysis
Unknown
DMD
mahjani_22_OCD/CTD_discovery_cases-case38
Unknown
DMD,TMEM47,FTH1P14,MAGEB16,FAM47A,FAM47B,CFAP47,SIAH1P1,SRSF2P1,TBCAP1,HMGB1P16,NFYCP1,NPM1P8,MIR548F5,MIR3915,RNA5SP501,DMD-AS3,RNU6-1087P,RNU6-641P
mahjani_22_OCD/CTD_discovery_cases-case44
Unknown
FTH1P14,FAM47A
mahjani_22_OCD/CTD_discovery_cases-case66
Unknown
FTH1P14,FAM47A
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530660
Unknown
DMD,TBCAP1,MIR548F5,DMD-AS3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530988
Unknown
DMD
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530994
Array SNP
Unknown
DMD,TBCAP1
nava_13_ASD_discovery_cases-Fam845Proband10017
Maternal
Simplex
Unknown
DMD
nord_11_ASD_discovery_cases-239-1
Maternal
DMD
pagnamenta_11_ASD_discovery_cases-case3019.3
qPCR, FISH
Maternal
Multiplex
Segregated
NPM1P8,DMD
pagnamenta_11_ASD_discovery_cases-case3019.5
qPCR, FISH
Maternal
Multiplex
Segregated
NPM1P8,DMD
pinto_10_ASD_discovery_cases-case3019_003
qPCR-Maternal
maternal
Multiplex
Segregated
NPM1P8,DMD
pinto_10_ASD_discovery_cases-case5126_4
Agilent1M-Maternal
maternal
Multiplex
NA
TBCAP1,DMD
pinto_10_ASD_discovery_cases-case5241_3
qPCR
maternal
Multiplex
Not segregated
DMD exonic
pinto_14_ASD_discovery_cases2-case20032_1226001
qPCR
Possibly maternal
Maternal (X-linked in a male)
Multiplex
Unknown (not tested)
FTH1P14
prasad_12_ASD_discovery_cases-case100570L
qPCR
Maternal
Unknown
Unknown
DMD
prasad_12_ASD_discovery_cases-case128832
Unknown
Unknown
Unknown
DMD
prasad_12_ASD_discovery_cases-case146449L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50172L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59641L
Unknown
Unknown
Unknown
DMD
prasad_12_ASD_discovery_cases-case59838
Unknown
Unknown
Unknown
DMD
prasad_12_ASD_discovery_cases-case62231L
Unknown
Unknown
Unknown
DMD
prasad_12_ASD_discovery_cases-case91548L
qPCR
Maternal
Unknown
Unknown
DMD
rosenfeld_10_ASD_discovery_cases-case17307
FISH
Unknown
Unknown
Unknown
DMD
sanders_11_ASD_discovery_cases-11053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11604.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11616.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11879.p1
Both parents
Simplex (quad-proband matched)
Not segregated
DMD
sanders_11_ASD_discovery_cases-11911.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12565.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12634.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12671.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12832.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DMD
sanders_11_ASD_discovery_cases-12837.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-13001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13045.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13077.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
tropeano_16_ASD/NDD_replication_cases-case32
Unknown
Unknown
Unknown
HMGB1P16,RPS15AP40,CFAP47
walker_13_ASD_discovery_cases-case8-14032-600
Unknown
Simplex
Unknown
CFAP47
willemsen_12_DD/ID_discovery_cases-case6
Maternal
MIR3915,MIR548F5,DMD-AS3,DMD
yuen_17_ASD_discovery_cases-case1-0011-004
CNV not detected by WGS, identified via 6kb with Agilent 1M
Unknown
Simplex
Unknown
DMD
yuen_17_ASD_discovery_cases-case2-0264-004
Illumina1M
Maternal
Multiplex
Not segregated
TBCAP1,DMD
yuen_17_ASD_discovery_cases-case2-1646-003
Affymetrix CytoScan HD
Maternal
Simplex
Unknown
FAM47A
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0264-003
RT-qPCR or WGS
Maternal
TBCAP1,DMD
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000700
SNP VCF
Unknown
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Unknown
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Unknown
FAM47A
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
PRRG1
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
Unknown
LANCL3
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
Unknown
DMD
engchuan_15_ASD_discovery_controls-controlHABC_900208_900208
Unknown
FTH1P19,FTH1P27,FAM47DP,PRRG1,LANCL3
engchuan_15_ASD_discovery_controls-controlHABC_900475_900475
Unknown
DMD-AS3,DMD
engchuan_15_ASD_discovery_controls-controlHABC_900773_900773
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
Unknown
DMD
engchuan_15_ASD_discovery_controls-controlHABC_902777_902777
Unknown
FTH1P19,FTH1P27,PRRG1
krumm_15_ASD_discovery_controls-control13531.s1
1M-Duov3
Paternal
FTH1P19,FTH1P27,FAM47DP,XK,CYBB,DYNLT3,PRRG1,LANCL3
krumm_15_ASD_discovery_controls-control13556.s1
1M-Duov3
Maternal
DMD
krumm_15_ASD_discovery_controls-control13763.s1
Omni2.5-4v1
Maternal
FTH1P19,FTH1P27,FAM47DP,PRRG1,LANCL3
kushima_18_ASD/SCZ_discovery_controls-controlCON0268
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
DMD
kushima_18_ASD/SCZ_discovery_controls-controlCON1234
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
DMD
kushima_18_ASD/SCZ_discovery_controls-controlCON1656
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
RNA5SP501,DMD
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0268
qRT-PCR
Unknown
DMD
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1234
qRT-PCR
Unknown
DMD
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1656
qRT-PCR
Unknown
DMD,RNA5SP501
sanders_11_ASD_discovery_controls-11010.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11053.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11258.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11526.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Both parents
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-11616.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11845.s1
Paternal
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-12030.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12057.s1
Paternal
Simplex (quad)
NA
FTH1P19
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12062.s1
Both parents
Simplex (quad)
NA
DMD-AS3,DMD
sanders_11_ASD_discovery_controls-12086.s1
Maternal
Simplex (quad)
NA
DMD-AS3,DMD
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-12120.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12351.s1
Paternal
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-12512.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12628.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
DMD
sanders_11_ASD_discovery_controls-12907.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13021.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Both parents
Simplex (quad)
NA
DMD-AS3,DMD
sanders_11_ASD_discovery_controls-13175.s1
Both parents
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family6_Twin_1
Unknown
N/A (both twins typically developing)
No Animal Model Data Available