Xp11.4CNV Type: Deletion-Duplication
Largest CNV size: 220328 bp
Statistics Box:
Number of Reports: 31
Number of Reports: 31
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
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...
Duplication
A discovery resource of rare copy number variations in individuals with 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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Presynaptic dysfunction in CASK-related neurodevelopmental disorders
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
472000
1
0
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
133948
0
1
1
becker_20_EP/ID_discovery_cases
Female with a classical presentation of MICPCH syndrome caused by a de novo Xp11.4 duplication within the CASK gene who was recruited to the study from The Roots of Autism and ADHD study in Sweden (RATSS) and Clinical Genetics at the Karolinska University Hospital
1
Case presented with intellectual disability and epilepsy
NA
Female
54853
0
1
1
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
160000
0
1
1
cai_08_ASD_discovery_cases
Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
279
270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
Mean 7.94 yrs
79.6% Male
129000
0
2
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
137218
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
4098
2
0
2
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
142000
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
220328
0
11
11
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
18188
0
1
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
111000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
589666
2
6
8
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
279250
0
5
5
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
16224
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
172000
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
140140
0
1
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
112000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
121003
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
877000
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
114128
0
1
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
405000
1
0
1
noor_09_ASD_discovery_cases
Autistic male from a family from Newfoundland, Canada; patient was previously described in a Marshall et al. 2008 CNV report (patient was identified as NA0112-000 in this report).
1
ASD
NA
Male
121000
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
66557
1
0
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
134000
1
0
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
139403
0
3
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
345324
0
4
4
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
219482
0
2
2
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
79073
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
220328
6
2
8
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
50000
0
2
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
92000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
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
629721
0
10
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
135891
0
3
3
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
41510
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
noor_09_ASD_discovery_controls
Control cohort previously used in a Marshall et al. 2008 CNV report (German PopGen project and entries from Database of Genomic Variants, and non-disease controls from Ontario population)
1652
Control
NA
NA
121000
0
0
0
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.
166171
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
219482
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.
220328
6
2
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
becker_20_EP/ID_discovery_cases
Sweden
aCGH
NA
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
cai_08_ASD_discovery_cases
205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
MLPA
ABI 3130 genetic analyzer (Applied Biosystem)
GeneMarker
Direct DNA sequencing qPCR, FISH
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
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)
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
None
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
noor_09_ASD_discovery_cases
Canadian
Array SNP
Affymetrix Nsp, Affymetrix Syt
dChip, CNAG, GEMCA
qPCR, qmPCR
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
cai_08_ASD_discovery_controls
Caucasian
qPCR
ABI Prism 7900 HT (Applied Biosystem)
Sequence Detection
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)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
noor_09_ASD_discovery_controls
European
Array SNP
Affymetrix Nsp, Affymetrix Syt
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
asadollahi_14_NDD_discovery_cases-case69234
2 yrs.
F
Developmental delay
Developmental delay, hypotonia, microcephaly, minor morphological abnormalities
41480414
41952263
471850
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB133
N/A
F
ASD
ASD on ADOS; absence of expressive language; normal brain MRI and EEG
38631591
38765538
133948
GRCh38
Duplication
No
becker_20_EP/ID_discovery_cases-caseFam2-p1
NA
F
Intellectual disability and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: scoliosis. Epilepsy/seizures: infantile spasms, epilepsy. Brain imaging: pontocerebellar hypoplasia, optic nerve hypoplasia.
Intellectual disability
41710324
41765176
54853
GRCh38
Duplication
No
bremer_11_ASD_discovery_cases-case38
4
M
ASD
Syndromic ASD, sporadic case
IQ>70
38625530
38785380
159851
GRCh38
Duplication
Yes
cai_08_ASD_discovery_cases-AU032904
NA
M
Autism
NA
NA
129000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU038703
NA
F
Broad spectrum
NA
NA
129000
Unknown
Duplication
Yes
calderoni_20_ASD_discovery_cases-caseP1
7 yrs. 9 mos.
F
ASD
Language and communication evaluation: verbal.
IQ 70
38632286
38769503
137218
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11338
NA
M
ASD
NA
NA
40712130
40714016
1887
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11418
NA
M
ASD
NA
NA
37841724
37845822
4099
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA207
22 yrs. (born 1992)
M
ASD
Diagnosis: early infantile autism. Comorbidities/additional features: pre-term birth (week 26), spastic diplegia, central sight disorder. Family history: none reported.
Cognitive impairment (IQ 60-80)
38627366
38770193
142828
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13027_353
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37929771
38150099
220329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13054_643
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37929771
38150099
220329
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1960_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20033_1227001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20141_1396001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
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)
38631591
38780603
149013
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4152_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40516158
40628610
112453
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4457_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5419_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41697302
41734306
37005
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5524_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6034_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38631591
38770993
139403
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258154
N/A
F
Developmental delay
Microcephaly; Developmental regression; Global developmental delay; Hearing impairment; Diabetes mellitus; Aplasia/Hypoplasia of the cerebellum; Abnormality of the brainstem; Delayed CNS myelination
41650472
41668660
18189
GRCh38
Duplication
No
hnoonual_17_ASD_discovery_cases-caseRA11
N/A
M
ASD and intellectual disability
No additional clinical features
Intellectual disability
41393582
41504583
111002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001712
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38631752
38769503
137752
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001817
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40375929
40810369
434441
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001870
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38631752
38769503
137752
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001908
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38631752
38769503
137752
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002681
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41534941
41915080
380140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41615487
41836444
220958
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41630750
41807553
176804
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004827
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39666120
40255787
589668
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11220.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
40588985
40630773
41789
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13162.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37847480
38126730
279251
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
38033889
38125506
91618
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13911.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
38666120
38687667
21548
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
38666120
38687667
21548
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case4
9 yrs.
M
Intellectual disability
Intellectual disability
41561116
41577340
16225
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case13-19
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awakening, CSSG. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: No. Verbal IQ 110, performance IQ 109 (at 7 years of age)
42243422
42415759
172338
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
14 months
F
Septo-optic dysplasia
Septo-optic dysplasia, overgrowth hormone abnormality.
38629364
38769503
140140
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown222
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)
40521327
40634037
112711
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0112-000
NA
M
ASD
NA
NA
38634861
38755862
121002
GRCh38
Duplication
Yes
monteiro_19_ASD_discovery_cases_case29
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
Normal (no intellectual disability)
41727729
42604874
877146
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case128303
N/A
F
DCD
Ancestry: European. Family history: maternal diagnosis reading disorder; paternal diagnosis reading disorder; sibling diagnosis ADHD and reading disorder.
40515417
40629544
114128
GRCh38
Duplication
Yes
munnich_19_ASD_discovery_cases-case20
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
41651569
42053243
401675
GRCh38
Deletion
Yes
noor_09_ASD_discovery_cases-case1
NA
M
Autism
No clinical information provided. This case was previously described in a Marshall et al. 2008 CNV report (ID NA0112-000).
38634861
38755862
121002
GRCh38
Duplication
Yes
pfundt_16_nonNDD_discovery_cases-case55
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: de novo USP9X deletion in female patint
41134724
41201281
66558
GRCh38
Deletion
Yes
pham_14_ASD/DD/EP/ID_discovery_cases-case53
4 yrs.
M
Developmental delay
Indication for study: moderate developmental delay, failure to thrive, dysmorphic features. Levels of mosaicism: 52% by CMA; 58% by FISH.
41719425
41853371
133947
GRCh38
Mosaic deletion
Yes
pinto_10_ASD_discovery_cases-case1960_301
NA
F
Autism
Verbal, floppy infant, gastrointestinal problems
MR
38631591
38770993
139403
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5419_3
NA
M
Autism
No epilepsy; long, wide palpebral fissures, wide mouth, protruding ears, no other dysmorphic features
Unknown
41697302
41734306
37005
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5524_3
NA
M
ASD
NA
NA
38631591
38770993
139403
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case20141_1396001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
38631591
38770993
139403
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case4152_1
4 yrs.
M
ASD
Autism (based on medical history and ADI-R), language delay, developmental delay, sleep disturbance, oppositional defiant disorder, allergies, asthma, high cholesterol, irritable bowel syndrome, possible history of seizures, severe self-injurious behavior, multiple hospitalizations for respiratory illness and pneumonias during infancy, history of recurring ear infections; dysmorphic features (long philtrum, narrowed pointed nose, posteriorly rotated ears, prominent occiput, epicanthal folds, overlapping toes), hypotonia. Family history: mother with chronic cytomegalovirus infection, anxiety disorder, depression, migraines, anorexia, bulimia, and articulation problems; father with bipolar disorder, drug addiction, history of psychiatric hospitalization, and high cholesterol.
Mild ID (Vineland Adaptive Behavior Composite score 64 at 4 y)
40516158
40628610
112453
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case4356_1
N/A
M
ASD
Autism (based on medical history and ADI-R), language delay (first words 12 mo, first phrases 36 mo). Family history: N/A.
PIQ 97, FSIQ 52
38256951
38602274
345324
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case9861_202
N/A
M
ASD
Autism (autism on ADI-R, ASD on ADOS), delayed speech (first words 36 mo, first phrases 72 mo), limited language at 7 y; epilepsy started at 6 y, treated. No dysmorphic features, normal physical exam; normal height, weight and head circumference. Brain CT scan: frontal cortical atrophy; normal audiometry. Family history: both parents healthy.
Average IQ (Leiter-R at 7 y: VIQ 90)
41504478
41515270
10793
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case110953
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
37674137
37893618
219482
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case96280L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
41440618
41479656
39039
Unknown
Duplication
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG001020
NA
F
Developmental delay
Patient was of European ancestry and presented with microcephaly, abnormality of the cerebellum, and developmental delay.
41599662
41678734
79073
GRCh38
Deletion
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG003417
NA
F
Developmental delay
Patient was of European ancestry and presented with dystonia, abnormality of the cerebellum, hypotonia, and developmental delay.
41506505
41542250
35746
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
40516158
40628610
112453
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
38763743
38770993
7251
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
39170434
39177989
7556
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
40983136
40998109
14974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
40928482
40974693
46212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
42128522
42141363
12842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
40909805
40936921
27117
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
37929771
38150099
220329
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case52
M
Intellectual disability
Intellectual disability
Intellectual disability
38645803
38695802
50000
GRCh38
Duplication
No
willemsen_12_DD/ID_discovery_cases-case53
M
Intellectual disability
Intellectual disability
Intellectual disability
38645803
38695802
50000
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case17
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
38566298
38658688
92391
GRCh38
Deletion
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
cai_08_ASD_discovery_controls-control1
NA
Control
NA
NA
129000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control2
NA
Control
NA
NA
129000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control3
NA
Control
NA
NA
129000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control4
NA
Control
NA
NA
129000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control5
NA
Control
NA
NA
129000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control6
NA
Control
NA
NA
129000
Unknown
Duplication
No
engchuan_15_ASD_discovery_controls-control110036016517_
N/A
N/A
Control
No previous psychiatric history
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
N/A
N/A
Control
No previous psychiatric history
38631591
38769214
137624
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB818627_1007854359
N/A
N/A
Control
No previous psychiatric history
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB837205_1007852918
N/A
N/A
Control
No previous psychiatric history
39543455
39599557
56103
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB920032_1007845366
N/A
N/A
Control
No previous psychiatric history
38631591
38769214
137624
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900172_900172
N/A
N/A
Control
No previous psychiatric history
38655695
38770993
115299
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
N/A
N/A
Control
No previous psychiatric history
38269285
38899006
629722
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
N/A
N/A
Control
No previous psychiatric history
38631591
38770993
139403
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
N/A
N/A
Control
No previous psychiatric history
37890598
38287917
397320
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
N/A
N/A
Control
No previous psychiatric history
38621856
38779348
157493
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11220.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
40588985
40630773
41789
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13162.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37990839
38126730
135892
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14407.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
38666120
38687667
21548
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400352
N/A
F
Control
Non-autism control
38646245
38687754
41510
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28077
Control
38358108
38524278
166171
Unknown
Duplication
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
40516158
40624703
108546
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
39170434
39177989
7556
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
42128522
42141363
12842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11812.s1
6.3
F
Control (matched sibling)
NA
NA
42128522
42141363
12842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
40928482
40974693
46212
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12343.s1
8
F
Control (matched sibling)
NA
NA
42128522
42141363
12842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12434.s1
8.8
F
Control (matched sibling)
NA
NA
39798206
39809706
11501
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
37929771
38150099
220329
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case69234
MLPA
De novo
Unknown
Unknown
CASK-AS1,RNU6-1321P,RN7SL144P,GPR34,RNU6-202P,GPR82,CASK
bacchelli_20_ASD_discovery_cases-caseAB133
Maternal
Simplex
TSPAN7
becker_20_EP/ID_discovery_cases-caseFam2-p1
De novo
Simplex
Segregated
RPS15AP39,GPR82,CASK
bremer_11_ASD_discovery_cases-case38
MLPA, FISH
Maternal
NA
NA
TSPAN7
cai_08_ASD_discovery_cases-AU032904
qPCR
Maternal
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_cases-AU038703
qPCR
Maternal
Multiplex
Not segregated
1 gene (TM4SF2)
calderoni_20_ASD_discovery_cases-caseP1
qPCR
Maternal
TSPAN7
celestino-soper_11_ASD_discovery_cases-11338
Unknown
Simplex
NA
MED14
celestino-soper_11_ASD_discovery_cases-11418
Unknown
Simplex
NA
DYNLT3
egger_14_ASD_discovery_cases-caseA207
Unknown
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case13027_353
Unknown
HYPM,MIR548AJ2,SRPX,SYTL5
engchuan_15_ASD_discovery_cases-case13054_643
Unknown
HYPM,MIR548AJ2,SRPX,SYTL5
engchuan_15_ASD_discovery_cases-case1960_301
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case20033_1227001
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case20141_1396001
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case3065_5
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case4152_1
Unknown
RNU7-164P,MPC1L,ATP6AP2,CXorf38
engchuan_15_ASD_discovery_cases-case4457_1
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case5419_3
Unknown
GPR82,CASK
engchuan_15_ASD_discovery_cases-case5524_3
Unknown
TSPAN7
engchuan_15_ASD_discovery_cases-case6034_3
Unknown
TSPAN7
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER258154
De novo
Simplex
Segregated
CASK
hnoonual_17_ASD_discovery_cases-caseRA11
Maternal
NYX
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001712
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
TSPAN7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001817
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU7-164P,MPC1L,MED14OS,DPRXP6,ATP6AP2,MED14,CXorf38
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001870
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TSPAN7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001908
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
TSPAN7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002681
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-1321P,RN7SL144P,GPR34,GPR82,CASK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003803
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL144P,GPR34,GPR82,CASK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL144P,GPR34,GPR82,CASK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004827
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL732P,GAPDHP1,MIR1587,RPS11P7,BCOR
krumm_15_ASD_discovery_cases-case11220.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MPC1L,ATP6AP2,CXorf38
krumm_15_ASD_discovery_cases-case13162.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-49P,HYPM,MIR548AJ2,DYNLT3,SYTL5
krumm_15_ASD_discovery_cases-case13512.p1
1M-Duov3
Maternal
Simplex
Segregated
SYTL5
krumm_15_ASD_discovery_cases-case13911.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TSPAN7
krumm_15_ASD_discovery_cases-case14407.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TSPAN7
lee_17_ASD/DD/ID/MCA_discovery_cases-case4
Unknown
RNU6-1321P,CASK
lesca_12_EP_discovery_cases-case13-19
Maternal
Unknown
Unknown
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case47
Unknown
TSPAN7
maini_18_ASD/DD/ID_discovery_cases-case_unknown222
Maternal
Unknown
Unknown
RNU7-164P,MPC1L,ATP6AP2,CXorf38
marshall_08_ASD_discovery_cases-NA0112-000
qPCR, qmPCR
Unknown
NA
NA
TSPAN7
monteiro_19_ASD_discovery_cases_case29
De novo
RNU6-202P,ATP5MC2P4,RNU6-630P,RNU6-1124P,GPR82,CASK
mosca_16_DCD_discovery_cases-case128303
qPCR
Unknown
Multi-generational
Unknown
RNU7-164P,MPC1L,ATP6AP2,CXorf38
munnich_19_ASD_discovery_cases-case20
FISH
De novo
RN7SL144P,GPR34,RNU6-202P,GPR82,CASK
noor_09_ASD_discovery_cases-case1
qPCR, qmPCR
Maternal
Unknown
Unknown
TSPAN7
No apparent disruption in expression or coding sequence of the TSPAN7 gene
pfundt_16_nonNDD_discovery_cases-case55
MLPA or MAQ
De novo
USP9X
pham_14_ASD/DD/EP/ID_discovery_cases-case53
FISH and/or chromosome analysis
De novo
Unknown
Unknown
GPR82,CASK
pinto_10_ASD_discovery_cases-case1960_301
Illumina550
maternal
NA
NA
TSPAN7
pinto_10_ASD_discovery_cases-case5419_3
qPCR-Maternal,Agilent1M
maternal
Simplex
NA
GPR82,CASK
pinto_10_ASD_discovery_cases-case5524_3
Agilent1M
maternal
NA
NA
TSPAN7
pinto_14_ASD_discovery_cases2-case20141_1396001
qPCR
Maternal (X-linked in a male)
Simplex
CNV also present in unaffected sister
TSPAN7
pinto_14_ASD_discovery_cases2-case4152_1
Validation not attempted
Maternal (X-linked in a male)
Simplex
Unknown (not tested)
RNU7-164P,MPC1L,ATP6AP2,CXorf38
pinto_14_ASD_discovery_cases2-case4356_1
Validation not attempted
Maternal (X-linked in a male)
Multiplex
Unknown (not tested)
TDGF1P1,FTLP16,UBTFL11,RPGR,OTC,TSPAN7
pinto_14_ASD_discovery_cases2-case9861_202
qPCR
Maternal (X-linked in a male)
Simplex
Possibly segregated (not tested; possible X-linked segregation)
CASK
prasad_12_ASD_discovery_cases-case110953
Unknown
Unknown
Unknown
SYTL5,CXorf27,SRPX
prasad_12_ASD_discovery_cases-case96280L
Unknown
Unknown
Unknown
GPR82,GPR34,CASK
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG001020
Unknown
Simplex
YWHAZP10,CASK
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG003417
Unknown
Simplex
CASK-AS1,CASK
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-164P,MPC1L,ATP6AP2,CXorf38
sanders_11_ASD_discovery_cases-11376.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11456.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12337.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS2P55
sanders_11_ASD_discovery_cases-12343.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-630P
sanders_11_ASD_discovery_cases-12961.p1
Maternal
Simplex (trio)
NA
RPS2P55
sanders_11_ASD_discovery_cases-13162.p1
Unknown
Simplex (quad-proband matched)
Segregated
HYPM,MIR548AJ2,SRPX,SYTL5
willemsen_12_DD/ID_discovery_cases-case52
Maternal
TSPAN7
willemsen_12_DD/ID_discovery_cases-case53
Maternal
TSPAN7
xu_16_ASD/DD/ID_discovery_cases-case17
Maternal
RNU7-7P,TSPAN7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cai_08_ASD_discovery_controls-control1
Unknown
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_controls-control2
Unknown
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_controls-control3
Unknown
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_controls-control4
Unknown
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_controls-control5
Unknown
NA
NA
1 gene (TM4SF2)
cai_08_ASD_discovery_controls-control6
Unknown
NA
NA
1 gene (TM4SF2)
engchuan_15_ASD_discovery_controls-control110036016517_
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlB700071_1007874656
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlB818627_1007854359
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlB837205_1007852918
Unknown
engchuan_15_ASD_discovery_controls-controlB920032_1007845366
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlHABC_900172_900172
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlHABC_900416_900416
Unknown
TDGF1P1,FTLP16,UBTFL11,RNU7-7P,MID1IP1,MID1IP1-AS1,RPGR,OTC,TSPAN7
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
Unknown
TSPAN7
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
Unknown
HYPM,MIR548AJ2,SRPX,SYTL5,RPGR
engchuan_15_ASD_discovery_controls-controlHABC_902844_902844
Unknown
TSPAN7
krumm_15_ASD_discovery_controls-control11220.s1
Illumina 1M
Maternal
MPC1L,ATP6AP2,CXorf38
krumm_15_ASD_discovery_controls-control13162.s1
Illumina 1MDuo
Maternal
HYPM,MIR548AJ2,SYTL5
krumm_15_ASD_discovery_controls-control14407.s1
Omni2.5-4v1
Maternal
TSPAN7
leblond_19_ASD_discovery_controls-controlPN400352
Unknown
TSPAN7
nord_11_ASD_discovery_controls-04C28077
TSPAN7
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
RNU7-164P,MPC1L,ATP6AP2
sanders_11_ASD_discovery_controls-11456.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11571.s1
Paternal
Simplex (quad)
NA
RNU6-630P
sanders_11_ASD_discovery_controls-11812.s1
Paternal
Simplex (quad)
NA
RNU6-630P
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
RPS2P55
sanders_11_ASD_discovery_controls-12343.s1
Paternal
Simplex (quad)
NA
RNU6-630P
sanders_11_ASD_discovery_controls-12434.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13162.s1
Maternal
Simplex (quad)
NA
HYPM,MIR548AJ2,SRPX,SYTL5
No Animal Model Data Available