Xq25CNV Type: Deletion-Duplication
Largest CNV size: 1420000 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
Duplication
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation
Duplication
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological 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
183000
0
1
1
bonnet_09_DD/ID_discovery_cases
Two affected brothers carrying a maternally-inherited Xq25 duplication affecting the GRIA3 gene evaluated at the Centre Hospitalier Universitaire de Nancy (Vandoeuvre les Nancy, France).
2
Both individuals presented with developmental delay (DD) and intellectual disability (ID).
NA
Male
270546
0
2
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
754459
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
298034
8
3
11
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
425169
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
73009
1
0
1
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
18
7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
Average, 9.9 years
66.67% Male
536677
0
1
1
guilmatre_09_ASD_discovery_cases
ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
260
257 cases with autism, 3 cases with Aspberger syndrome
11.8
80.5% Male
1420000
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
151152
2
0
2
jacquemont_06_ASD_discovery_cases
Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
29
Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
NA
58.62% Male
3200000
0
1
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
390000
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
1784514
2
4
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
510416
1
2
3
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
4200000
1
0
1
mitani_21_DD/ID_discovery_cases
Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
299
Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
NA
NA
916065
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
43881
0
2
2
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
281551
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
642000
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
276495
1
1
2
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
819499
17
4
21
schroer_12_ASD_discovery_cases
Proband in the South Carolina Autism Project identified in a study of 187 ASD probands
1
Diagnosis of autism and intellectual disability based on CARS, ADI-R, PL-ADOS, Vineland Adaptive Behavior Scales, and Stanford-Binet Intelligence Scales, 4th edition.
17 yrs.
Male
615000
0
1
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
257000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
488366
17
6
23
guilmatre_09_ASD_discovery_controls
Controls
236
Controls
39.5
43.8% Male
0
0
0
0
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
510416
1
2
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.
69503
3
0
3
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)
43881
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.
819499
19
4
23
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
bonnet_09_DD/ID_discovery_cases
France
aCGH
Agilent 244A
NA
Agilent Feature Extraction v.9.5.3.1, Agilent CGH analytics software v.3.5.14
qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
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
None
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
None
guilmatre_09_ASD_discovery_cases
France (231), Italy (29)
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
QMPSF, aCGH, FISH
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
jacquemont_06_ASD_discovery_cases
France
aCGH
BACs aCGH (1 Mb resolution array)
PCR, aCGH
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
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)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mitani_21_DD/ID_discovery_cases
Turkey
WES, WGS
Illumina HiSeq2000, Illumina NovaSeq6000
NA
XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
aCGH and/or ddPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schroer_12_ASD_discovery_cases
White
aCGH
Agilent 4x44K exon-focused microarray
aCGH (Agilent 244K), FISH
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
guilmatre_09_ASD_discovery_controls
Northwestern France
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
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)
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
asadollahi_14_NDD_discovery_cases-case68942
N/A
M
NDD
Case with unspecified neurodevelopmental disorder. Duplication also present in maternal grandfather.
123669605
123853048
183444
GRCh38
Duplication
Yes
bonnet_09_DD/ID_discovery_cases_caseII-1
10 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: severe language delay (no significant words at 10 years). Additional medical history: inguinal hernia. Family history: similarly affected brother; their mother presented with language and learning disabilities, facial hypotonia and a moderately short upper lip (X-inactivation studies showed that the affected mother had a random pattern (23 to 77%)); their unaffected sister, who also carried the mutation, with a skewed XCI pattern (3 to 97%).
Intellectual disability (WISC-R IQ score 59 at 10 years)
123185932
123456477
270546
GRCh38
Duplication
Yes
bonnet_09_DD/ID_discovery_cases_caseII-3
NA
M
Developmental delay and intellectual disability
Birth/neonatal history: hypotonia in early infancy. Developmental milestones: developmental delay, delayed ability to walk (20 months), inability to read. Behavioral/psychiatric evaluation: behavioral problems with fits of anger. Brain imaging: retrocerebellar cyst. Dysmorphic features: narrow palate, prominent incisors, short philtrum, uplifted ear lobules. Family history: similarly affected brother; their mother presented with language and learning disabilities, facial hypotonia and a moderately short upper lip (X-inactivation studies showed that the affected mother had a random pattern (23 to 77%)); their unaffected sister, who also carried the mutation, with a skewed XCI pattern (3 to 97%).
Intellectual disability
123185932
123456477
270546
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU019705
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
128272178
129026637
754459
Unknown
Duplication
No
engchuan_15_ASD_discovery_cases-case13010_123
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127404443
127588183
183741
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13236_2623
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123522552
123555109
32558
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16090_1571122001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
128722789
128782577
59789
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20024_1116001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
130705178
130825448
120271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2200_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125959461
126257494
298034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3428_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
128743944
128782577
38634
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3492_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125929716
126037195
107480
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4270_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
121795772
121871182
75411
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4330_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127595621
127641346
45726
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4422_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
122103636
122191030
87395
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8639_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125341678
125421836
80159
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1592301
Autism
124296874
124722042
425169
Unknown
Hemizygous Deletion
No
gazzellone_14_ASD_discovery_cases-case611-3
5 yrs.
M
ASD
ASD, hypotonia, progressive motor impairments including difficulty walking
N/A
126750409
126823418
73010
GRCh38
Deletion
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
5 yrs.
M
Developmental delay
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay. Developmental milestones: sitting at 12 months, crawling at 12 months, walking at 36 months, first word at 42 months, two word sentences at 48 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 14.97th %ile, weight 38.7th %ile, OFC 45th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 103.
124351634
124888311
536678
GRCh38
Duplication
No
guilmatre_09_ASD_discovery_cases-caseT34
10
M
ASD
NA
IQ NA
120746477
122166142
1420000
Unknown
Duplication
Yes
iourov_12_ASD/ID/EP_discovery_cases-case35
11 yrs.
F
Autism and epilepsy
Autism, speech delay, seizures, facial dysmorphisms
Cognitive delay
130037511
130131215
93705
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case50
4 yrs.
F
Developmental delay/intellectual disability and autism
Autism, Rett syndrome-like phenotype
Developmental delay/intellectual disability
129384240
129535392
151153
GRCh38
Deletion
No
jacquemont_06_ASD_discovery_cases-patient12
20 yrs.
M
Autism
Fulfilled DSM-IV criteria for autism. Developed scoliosis at 6 yrs (surgically treated at 15 yrs.). Facial dysmorphism.
Mild mental retardation (MR)
NA
NA
3200000
Unknown
Duplication
Yes
jiao_19_EP/DD/ID_discovery_cases-caseDD18002279
3 yrs.
Male
DD and epilepsy/seizures
Developmental milestones: global developmental delay. Epilepsy/seizures: seizures.
123454385
123844386
390002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002209
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123469532
123590128
120597
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003841
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123735950
124254925
518976
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004805
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
125868524
126259713
391190
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004964
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123469532
123590128
120597
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
124925327
126709707
1784381
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005270
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123469532
123590128
120597
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11247.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
123665641
123733022
67382
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11274.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
123623786
123907183
283398
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13893.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
124453336
124963753
510418
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown239
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 pathogenic
125305481
129544946
4239466
GRCh38
Deletion
No
mitani_21_DD/ID_discovery_cases-caseBAB6868
6 yrs.
M
Developmental delay and intellectual disability
Developmental delay/intellectual disability, facial dysmorphic features. Family history: duplication is also present in affected brother; the status of the duplication in two maternal uncles and one male cousin born to a maternal aunt who also had similar facial dysmorphic features and DD/ID is unknown.
123184534
124100598
916065
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case78621
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122873106
122916986
43881
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseMM0105-4
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
122508184
122520091
11908
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_401
6 yrs.
M
Intellectual disability and ADHD
Learning and language delays, ADHD, dystonic posturing of hands and feet, bifid earlobe.
Intellectual disability
123178180
123459732
281553
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase31
2 yrs.
F
Learning disability (developmental delay/intellectual disability)
Microcephaly
123840123
124482526
642404
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
126121755
126224963
103209
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
123914076
124190570
276495
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
122175872
122179796
3925
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11080.p1
5.1
F
ASD
NA
Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
128700540
128732603
32064
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11113.p1
15
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 92
122175872
122179796
3925
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
128700540
128732603
32064
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
129186633
129192989
6357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
122175872
122182407
6536
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
123658896
123777892
118997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
123624358
123983139
358782
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
128700540
128749696
49157
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
126275744
127095243
819500
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
125858314
125860196
1883
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11524.p1
15.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
127595621
127625238
29618
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
129186633
129192989
6357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11694.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 89; verbal IQ, 116
129181253
129192989
11737
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12010.p1
10
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
129186633
129192989
6357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12093.p1
6
M
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
125858314
125860196
1883
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
128722789
128745983
23195
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12346.p1
13.4
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 77; verbal IQ, 106
128261990
128301573
39584
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
127595621
127608818
13198
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12588.p1
9.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
126972400
127616292
643893
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
129799681
129845800
46120
GRCh38
Deletion
No
schroer_12_ASD_discovery_cases-case1
17 yrs.
M
Autism
Diagnosis of autism based on CARS, ADI-R, and PL-ADOS. Birth/neonatal history: pregnancy associated with gestational diabetes managed by diet; Rho-Gham administered at 7 months gestation; delivery at 38.5 weeks; birth weight 3.3 kg; uneventful newborn period. Developmental milestones: walked at 12 months and developed age-appropriate speech; both motor and language development plateaued at age 18-20 months and then began to regress. Epilepsy/seizures: febrile seizure at 10 months of age, complex partial seizures developed 2-3 months later that were controlled with anticonvulsives and brain surgery (left frontotemporal resection at 5 years); no seizures in past 3 years reported at age of 16 years 7 months. Language and communication evaluation: exhibition of echolalia. Motor and musculoskeletal evaluation: lag in fine motor skills; deep tendon reflexes more brisk at knees than elsewhere. Beahvioral/psychiatric evaluation: lag in social skills, avoidance of eye contact, play preference with younger children, development of routines in his activities. EEG: epileptic discharges localized to left fronto-orbital area. Brain imaging: no structural abnormalities noted on brain MRI. Biochemical evaluation: normal plasma amino acids, urine metabolic screen, urine amino acids and organic acids, and serum adenylsuccinate lyase activity; elevated platelet serotonin. Visual and auditory evaluation: seemed to have very sensitive hearing. Dysmorphic features: widely spaced eyes, Cupid's bow upper lip, flattened occiput. Growth parameters (at age of 16 years 7 months): height, 164 cm (5-10th %ile); head circumference, 56.4 cm (50th-75th %ile). Family history: only child of healthy white parents.
Intellectual disability (based on Vineland Adaptive Behavior Scales and Stanford-Binet Intelligence Scale, 4th ed.); IQ of 60 at age 17 years. Good memory, spelling and mechanical skills noted at earlier evaluations.
129290881
129906568
615688
GRCh38
Duplication
Yes
soueid_16_ASD_discovery_cases-caseBAK42
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
127755727
128013126
257400
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
engchuan_15_ASD_discovery_controls-control110036006690_
N/A
N/A
Control
No previous psychiatric history
127013958
127198772
184815
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB199927_1007875977
N/A
N/A
Control
No previous psychiatric history
126059373
126172506
113134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
N/A
N/A
Control
No previous psychiatric history
126184958
126229321
44364
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
N/A
N/A
Control
No previous psychiatric history
128532424
128864283
331860
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB368961_1007872308
N/A
N/A
Control
No previous psychiatric history
128532424
128864283
331860
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
N/A
N/A
Control
No previous psychiatric history
128011090
128076279
65190
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
N/A
N/A
Control
No previous psychiatric history
128494314
128581244
86931
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
N/A
N/A
Control
No previous psychiatric history
127316488
127588183
271696
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
N/A
N/A
Control
No previous psychiatric history
128007627
128106015
98389
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB940548_1007844796
N/A
N/A
Control
No previous psychiatric history
126218792
126505242
286451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
125970935
126156048
185114
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB986239_1007854704
N/A
N/A
Control
No previous psychiatric history
127894976
128383343
488368
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900271_900271
N/A
N/A
Control
No previous psychiatric history
126203900
126259616
55717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
N/A
N/A
Control
No previous psychiatric history
126781502
127023465
241964
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
N/A
N/A
Control
No previous psychiatric history
126191257
126250450
59194
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
N/A
N/A
Control
No previous psychiatric history
127004316
127205779
201464
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
N/A
N/A
Control
No previous psychiatric history
126291963
126421774
129812
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
N/A
N/A
Control
No previous psychiatric history
127529125
127786984
257860
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
N/A
N/A
Control
No previous psychiatric history
126191257
126229321
38065
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
N/A
N/A
Control
No previous psychiatric history
128128593
128515538
386946
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
N/A
N/A
Control
No previous psychiatric history
127583454
127895581
312128
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
N/A
N/A
Control
No previous psychiatric history
126245564
126295520
49957
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
N/A
N/A
Control
No previous psychiatric history
125832509
125927205
94697
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11356.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
126551216
126821535
270320
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13250.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124736956
124963753
226798
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13893.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124453336
124963753
510418
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27990
Control
127571839
127581257
9419
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28234
Control
126556500
126587081
30582
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28411
Control
126872675
126942177
69503
Unknown
Deletion
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
122175872
122179796
3925
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
122175872
122182407
6536
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11290.s1
13.4
F
Control (matched sibling)
NA
NA
123522552
123542870
20319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
126275744
127095243
819500
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11359.s1
11.6
F
Control (matched sibling)
NA
NA
126059373
126176869
117497
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11404.s1
4.7
M
Control (matched sibling)
NA
NA
128267383
128763940
496558
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
127595621
127616292
20672
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
129186633
129192989
6357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
127595621
127625238
29618
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11616.s1
6.8
M
Control (matched sibling)
NA
NA
129186633
129192989
6357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
129150802
129186789
35988
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
128700540
128732603
32064
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11979.s1
6.3
F
Control (matched sibling)
NA
NA
129145535
129186789
41255
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
126191257
126229321
38065
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
127595621
127641346
45726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12327.s1
16.3
F
Control (matched sibling)
NA
NA
128700540
128732603
32064
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12588.s1
5.4
M
Control (matched sibling)
NA
NA
126972400
127616292
643893
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12595.s1
10.4
M
Control (matched sibling)
NA
NA
127360133
127492990
132858
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
125950064
126024530
74467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
125324323
125337055
12733
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
129150802
129186789
35988
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13193.s1
11.3
M
Control (matched sibling)
NA
NA
129181253
129192989
11737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
128700540
128732603
32064
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case68942
MLPA
Maternal
Unknown
Unknown
MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,THOC2
bonnet_09_DD/ID_discovery_cases_caseII-1
qPCR
Maternal
Multiplex
Segregated
GRIA3
bonnet_09_DD/ID_discovery_cases_caseII-3
qPCR
Maternal
Multiplex
Segregated
GRIA3
davis_09_ASD_discovery_cases-AU019705
Unknown
Unknown
Unknown
SMARCA1, OCRL, APLN, XPNPEP2, ZDHHC9, BCORL1, ELF4, AIFM1
engchuan_15_ASD_discovery_cases-case13010_123
Unknown
engchuan_15_ASD_discovery_cases-case13236_2623
Unknown
engchuan_15_ASD_discovery_cases-case16090_1571122001
Unknown
engchuan_15_ASD_discovery_cases-case20024_1116001
Unknown
ENOX2
engchuan_15_ASD_discovery_cases-case2200_1
Unknown
DCAF12L2
engchuan_15_ASD_discovery_cases-case3428_3
Unknown
engchuan_15_ASD_discovery_cases-case3492_3
Unknown
engchuan_15_ASD_discovery_cases-case4270_1
Unknown
TPT1P13
engchuan_15_ASD_discovery_cases-case4330_100
Unknown
engchuan_15_ASD_discovery_cases-case4422_1
Unknown
engchuan_15_ASD_discovery_cases-case8639_201
Unknown
gai_11_ASD_discovery_cases-AU1592301
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case611-3
Unknown
Unknown
Unknown
PRR32
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Maternal
Simplex
Unknown
STAG2,SH2D1A,TENM1
guilmatre_09_ASD_discovery_cases-caseT34
QMPSF, aCGH, or FISH
Maternal
NA
NA
GRIA3 exons 1-4
iourov_12_ASD/ID/EP_discovery_cases-case35
Unknown
Unknown
Unknown
ELF4,AIFM1,BCORL1
iourov_12_ASD/ID/EP_discovery_cases-case50
Unknown
Unknown
Unknown
RPS26P56,RNA5SP513,SMARCA1
jacquemont_06_ASD_discovery_cases-patient12
PCR, aCGH (tiling path)
Maternal
Simplex
Segregated
NA
jiao_19_EP/DD/ID_discovery_cases-caseDD18002279
Maternal
Simplex
Not segregated
TUBB4AP1,FERP1,MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,GRIA3,THOC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002209
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TUBB4AP1,GRIA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003841
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,HSPA8P20,ZIK1P1,XIAP,STAG2,SH2D1A,TEX13D
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004805
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DCAF12L2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004964
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB4AP1,GRIA3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005193
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DCAF12L2,MTCO1P53,MTND4LP1,MTND4P24,TEX13C,DCAF12L1,TENM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005270
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TUBB4AP1,GRIA3
krumm_15_ASD_discovery_cases-case11247.p1
Illumina 1M
Maternal
Simplex
Segregated
THOC2
krumm_15_ASD_discovery_cases-case11274.p1
Illumina 1M
Paternal
Simplex
Segregated
MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,XIAP,THOC2
krumm_15_ASD_discovery_cases-case13893.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
TENM1
maini_18_ASD/DD/ID_discovery_cases-case_unknown239
Unknown
Unknown
Unknown
DCAF12L2,MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,ACTRT1,RPL7AP72,KRT18P44,RPL32P35,RPS26P56,RNA5SP513,TEX13C,DCAF12L1,BTG3P1,OCRL,SMARCA1
mitani_21_DD/ID_discovery_cases-caseBAB6868
aCGH and/or ddPCR
Maternal
Extended multiplex
Unknown
XIAP,THOC2,GRIA3,TUBB4AP1,FERP1,RNU7-69P,MEMO1P4,PARD6BP1,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,H3P47,STAG2
prasad_12_ASD_discovery_cases-case78621
Unknown
Unknown
Unknown
XIAP
prasad_12_ASD_discovery_cases-caseMM0105-4
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_401
Unknown
Unknown
GRIA3
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase31
BACs aCGH or FISH
Unknown (not maternal)
Unknown
Unknown
XIAP-AS1,RNU6-122P,HSPA8P20,NPM1P34,ZIK1P1,XIAP,STAG2,SH2D1A,TEX13D,TENM1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1077-0
qPCR
Unknown
Unknown
Unknown
DCAF12L2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
ZIK1P1,STAG2
sanders_11_ASD_discovery_cases-11031.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11080.p1
Paternal
Simplex (trio)
NA
KRT18P44
sanders_11_ASD_discovery_cases-11113.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11129.p1
Unknown
Simplex (trio)
NA
KRT18P44
sanders_11_ASD_discovery_cases-11154.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11225.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11247.p1
Unknown
Simplex (quad-proband matched)
Segregated
MEMO1P4,RNU7-69P,THOC2
sanders_11_ASD_discovery_cases-11274.p1
Paternal
Simplex (quad-proband matched)
Segregated
MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,XIAP,STAG2,THOC2
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Segregated
KRT18P44
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Segregated
MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,DCAF12L1
sanders_11_ASD_discovery_cases-11359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11524.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11616.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11694.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12010.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12093.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12346.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12579.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12588.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12858.p1
Unknown
Simplex (quad-proband matched)
Segregated
ZDHHC9
schroer_12_ASD_discovery_cases-case1
aCGH (Agilent 244K), FISH
Maternal
Simplex
Possible segregation
RPS26P56,RNA5SP513,OCRL,APLN,SASH3,ZDHHC9,SALL4P2,UTP14A,SMARCA1,XPNPEP2
Increased OCRL1 phosphatase activity on patient's skin fibroblasts (compared to controls)
soueid_16_ASD_discovery_cases-caseBAK42
Maternal
Simplex
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036006690_
Unknown
engchuan_15_ASD_discovery_controls-controlB199927_1007875977
Unknown
DCAF12L2
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
Unknown
engchuan_15_ASD_discovery_controls-controlB293253_1007842044
Unknown
KRT18P44,RPL32P35
engchuan_15_ASD_discovery_controls-controlB368961_1007872308
Unknown
KRT18P44,RPL32P35
engchuan_15_ASD_discovery_controls-controlB399063_0067942624
Unknown
ACTRT1
engchuan_15_ASD_discovery_controls-controlB488908_1007854765
Unknown
engchuan_15_ASD_discovery_controls-controlB781973_1007874689
Unknown
engchuan_15_ASD_discovery_controls-controlB791125_1007873652
Unknown
ACTRT1
engchuan_15_ASD_discovery_controls-controlB940548_1007844796
Unknown
MTCO1P53,MTND4LP1,MTND4P24
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
engchuan_15_ASD_discovery_controls-controlB986239_1007854704
Unknown
ACTRT1,RPL7AP72,BTG3P1
engchuan_15_ASD_discovery_controls-controlHABC_900271_900271
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900333_900333
Unknown
PRR32
engchuan_15_ASD_discovery_controls-controlHABC_900987_900987
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901230_901230
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902552_902552
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902615_902615
Unknown
RPL7AP72
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902714_902714
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
Unknown
krumm_15_ASD_discovery_controls-control11356.s1
Illumina 1M
Maternal
MTCYBP38,PRR32,DCAF12L1
krumm_15_ASD_discovery_controls-control13250.s1
1M-Duov3
Paternal
TENM1
krumm_15_ASD_discovery_controls-control13893.s1
Omni2.5-4v1
Maternal
TENM1
nord_11_ASD_discovery_controls-04C27990
0 genes
nord_11_ASD_discovery_controls-04C28234
0 genes
nord_11_ASD_discovery_controls-04C28411
0 genes
sanders_11_ASD_discovery_controls-11051.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11208.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11290.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11356.s1
Unknown
Simplex (quad)
NA
MTCO1P53,MTND4LP1,MTND4P24,MTCYBP38,PRR32,DCAF12L1
sanders_11_ASD_discovery_controls-11359.s1
Both parents
Simplex (quad)
NA
DCAF12L2
sanders_11_ASD_discovery_controls-11404.s1
Maternal
Simplex (quad)
NA
RPL7AP72,KRT18P44
sanders_11_ASD_discovery_controls-11446.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11510.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11616.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11712.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11723.s1
Paternal
Simplex (quad)
NA
KRT18P44
sanders_11_ASD_discovery_controls-11979.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12219.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12229.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12327.s1
Paternal
Simplex (quad)
NA
KRT18P44
sanders_11_ASD_discovery_controls-12588.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12595.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12888.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
TEX13C
sanders_11_ASD_discovery_controls-12956.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13193.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Unknown
Simplex (quad)
NA
KRT18P44
No Animal Model Data Available