1q31.3CNV Type: Deletion-Duplication
Largest CNV size: 250823 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
145299
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
250823
5
2
7
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
62303
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
16181
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
213957
17
3
20
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1860673
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
39438
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
111220
2
0
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
2494
1
0
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
324709
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
21714
1
0
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
56567
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
46326
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
213958
2
1
3
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
217844
2
1
3
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
184117
4
2
6
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
173391
11
2
13
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
7155
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
189274
14
1
15
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1860673
NA
NA
NA
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
74058
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
151503
1
2
3
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
59956
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)
217844
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.
65772
10
2
12
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
7155
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3, Agilent 4x180K or 8x60K)
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case122
3.42 yrs.
M
Developmental delay
Developmental delay, speech delay, excessive salivation, less responsive, poor sleep, inability to sit, facial dysmorphism. Growth parameters: height 0.87 m, weight 10 kg, head circumference 45 cm. Family history: born to non-consanguineous parents.
196998150
197143448
145299
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11007
NA
M
ASD
NA
NA
196743380
196994203
250824
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11059
NA
M
ASD
NA
NA
196773605
196830172
56568
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
196742677
196854624
111948
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11186
NA
M
ASD
NA
NA
196743380
196957888
214509
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11291
NA
M
ASD
NA
NA
196743380
196888151
144772
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11443
NA
M
ASD
NA
NA
196749250
196853709
104460
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11458
NA
M
ASD
NA
NA
198735012
198735233
222
GRCh38
Deletion
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
196769767
196832070
62304
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA217
10 yrs. (born 2004)
M
ASD
Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
196970589
196986769
16181
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13038_473
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194950119
195078806
128688
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14208_3350
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14311_4280
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20003_1019001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20034_1229001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20158_1659002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21001_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3507_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194677194
194760813
83620
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4148_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4151_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4290_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195143573
195176793
33221
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5002_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
194316563
194530520
213958
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5040_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
198579795
198743340
163546
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5356_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195143573
195176793
33221
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
198722466
198789087
66622
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5510_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195857608
195903933
46326
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6130_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195615649
195659953
44305
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6229_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195190182
195257331
67150
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8428_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
195861900
195903933
42034
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case39824
12 yrs.
F
Intellectual disability and ODD
Behavioral problems: oppositional defiant disorder (ODD), post-traumatic stress disorder (PTSD). Normal tone. Dysmorphic features: metopic prominence, hypertelorism, prominent nose with depressed columella, small hands. Failure to thrive. Growth parameters: weight 10th %ile, height 3rd-10th %ile, OFC -2.2 SD. Family history: mother with intellectual disability; maternal half-siblings with developmental delay.
Mild ID (IQ 68)
195231425
197092098
1860674
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002245
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
196788148
196827586
39439
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2937
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
196771125
196882344
111220
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case2941
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
196771125
196882344
111220
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case14110.p1
N/A
M
ASD
ASD proband from SSC quad family 14110. SRS score of 69.
Full-scale IQ (FSIQ) score of 77.
197510459
197512953
2495
GRCh38
Deletion
No (not tested)
lintas_17_ASD_discovery_cases-case5.1
N/A
M
Autism
No additional clinical information available
196417310
196742019
324710
GRCh38
Duplication
Yes
pfundt_16_NDD_discovery_cases-case57
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: ASPM deletion
197122387
197144101
21715
GRCh38
Deletion
Yes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
N/A
M
Developmental delay
Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.
Developmental delay (TIQ score of 54)
196773605
196830172
56568
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5002_3
NA
M
ASD
NA
NA
194316563
194530520
213958
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5040_5
NA
F
ASD
NA
NA
195861900
195903933
42034
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
198579795
198743340
163546
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5510_3
NA
M
ASD
NA
NA
195857608
195903933
46326
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case146441L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
195228238
195243110
14873
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57224L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
192545520
192763363
217844
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case78247L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
192930589
192950709
20121
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1201-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: unknown. Intellectual disability: unknown.
196748507
196932623
184117
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP88-026
N/A
N/A
CBLH-PMG
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
196748507
196851286
102780
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
196810758
196932623
121866
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
196810758
196932623
121866
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-210a2
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
196810758
196898103
87346
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
196841868
196964115
122248
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11000.p1
9.2
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 78; verbal IQ, 50
195524408
195536987
12580
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
195861900
195913143
51244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
194677194
194755231
78038
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
196561039
196578558
17520
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
194969113
194976092
6980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
194728073
194901464
173392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11581.p1
5.7
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
195861900
195923487
61588
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
194969113
194976092
6980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11942.p1
10.3
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 44; verbal IQ, 62
196687487
196693329
5843
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
194969113
194976092
6980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
195861900
195912329
50430
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12604.p1
4.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
195861900
195913143
51244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13196.p1
8.8
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ, 95
195861900
195913143
51244
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case45
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
196940503
196947657
7155
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-control110036024768_
N/A
N/A
Control
No previous psychiatric history
195861900
195923487
61588
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB329167_0067942632
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB410474_1007853687
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB599757_1007875362
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
N/A
N/A
Control
No previous psychiatric history
195857608
195903933
46326
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB737833_1007875235
N/A
N/A
Control
No previous psychiatric history
195857608
195903933
46326
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB835590_0057060979
N/A
N/A
Control
No previous psychiatric history
195861900
195912329
50430
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900053_900053
N/A
N/A
Control
No previous psychiatric history
194350448
194539722
189275
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900998_900998
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901097_901097
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
N/A
N/A
Control
No previous psychiatric history
195861900
195903933
42034
GRCh38
Deletion
No
itsara_10_ASD_discovery_controls_2-593
NA
NA
Asthma
NA
NA
196853900
196927958
74059
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split164
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
196823300
196862569
39270
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split341
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
196711067
196862569
151503
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split669
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
196823300
196862569
39270
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control14327.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
196282272
196342228
59957
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
195518666
195536987
18322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
194969113
194976092
6980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
195861900
195923487
61588
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
196498275
196551948
53674
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
194969113
194976092
6980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11519.s1
4.3
F
Control (matched sibling)
NA
NA
196569782
196578558
8777
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
194748711
194814483
65773
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11581.s1
6.8
M
Control (matched sibling)
NA
NA
195861900
195912329
50430
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11857.s1
12.5
F
Control (matched sibling)
NA
NA
198568879
198591970
23092
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
195776838
195783210
6373
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
195861900
195903933
42034
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
194969113
194976092
6980
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case122
Unknown
F13B,CFHR5,ASPM,SEPTIN14P12
celestino-soper_11_ASD_discovery_cases-11007
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
Paternal
Simplex
NA
CFHR3,CFHR1,CFHR4,CFHR2,CFH,CFHR5
celestino-soper_11_ASD_discovery_cases-11059
Solid phase hybridization (Illumina 1M SNP), aCGH (Agilent SurePrint G3)
De novo
Simplex
NA
CFHR3,CFHR1
celestino-soper_11_ASD_discovery_cases-11076
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
CFHR3,CFHR1,CFH
celestino-soper_11_ASD_discovery_cases-11186
Solid phase hybridization (Illumina 1M SNP)
Paternal
Simplex
NA
CFHR3,CFHR1,CFHR4,CFHR2,CFH
celestino-soper_11_ASD_discovery_cases-11291
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
CFHR3,CFHR1,CFHR4,CFH
celestino-soper_11_ASD_discovery_cases-11443
aCGH (Agilent 4x180K or 8x60K)
De novo
Simplex
NA
CFHR3,CFHR1
celestino-soper_11_ASD_discovery_cases-11458
Unknown
Simplex
NA
PTPRC
chilian_13_DD/ID_discovery_cases-case1
Unknown
Possibly simplex (no info on 1st child)
Unknown
CFHR3,CFHR1
egger_14_ASD_discovery_cases-caseA217
Unknown
Unknown
CFHR5
engchuan_15_ASD_discovery_cases-case13038_473
Unknown
engchuan_15_ASD_discovery_cases-case14208_3350
Unknown
engchuan_15_ASD_discovery_cases-case14311_4280
Unknown
engchuan_15_ASD_discovery_cases-case20003_1019001
Unknown
engchuan_15_ASD_discovery_cases-case20034_1229001
Unknown
engchuan_15_ASD_discovery_cases-case20158_1659002
Unknown
engchuan_15_ASD_discovery_cases-case21001_1
Unknown
engchuan_15_ASD_discovery_cases-case3507_3
Unknown
engchuan_15_ASD_discovery_cases-case4148_1
Unknown
engchuan_15_ASD_discovery_cases-case4151_1
Unknown
engchuan_15_ASD_discovery_cases-case4290_1
Unknown
engchuan_15_ASD_discovery_cases-case5002_3
Unknown
RNU6-983P
engchuan_15_ASD_discovery_cases-case5040_5
Unknown
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
PEBP1P3,PTPRC
engchuan_15_ASD_discovery_cases-case5356_3
Unknown
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
PTPRC
engchuan_15_ASD_discovery_cases-case5510_3
Unknown
engchuan_15_ASD_discovery_cases-case6130_4
Unknown
engchuan_15_ASD_discovery_cases-case6229_4
Unknown
engchuan_15_ASD_discovery_cases-case8428_203
Unknown
girirajan_12_ASD/DD/ID_discovery_cases-case39824
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
MIR4735,LINC01724,CFHR3,CFHR1,CFHR4,CFHR2,F13B,KCNT2,CFH,CFHR5,ASPM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002245
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CFHR3,CFHR1
kanduri_15_ASD_discovery_cases-case2937
Maternal
Unknown
Unknown
CFHR1,CFHR4
kanduri_15_ASD_discovery_cases-case2941
Maternal
Unknown
Unknown
CFHR1,CFHR4
krumm_13_ASD_discovery_cases-case14110.p1
Maternal
Simplex
Segregated
DENND1B
lintas_17_ASD_discovery_cases-case5.1
Validation by visual inspection, RT-PCR, or PCR
De novo
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
MIR4735,KCNT2,CFH
pfundt_16_NDD_discovery_cases-case57
MLPA or MAQ
SEPT14P12,ASPM
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3
Paternal
Multi-generational
Unknown
CFHR3,CFHR1
pinto_10_ASD_discovery_cases-case5002_3
Agilent1M
maternal
NA
NA
RNU6-983P
pinto_10_ASD_discovery_cases-case5040_5
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
paternal
Simplex
NA
PEBP1P3,PTPRC
pinto_10_ASD_discovery_cases-case5510_3
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case146441L
Unknown
Unknown
Unknown
CFHR5
prasad_12_ASD_discovery_cases-case57224L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78247L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1201-0
Not tested by qPCR
Unknown
Unknown
Unknown
CFHR3,CFHR1,CFHR4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLP88-026
Not tested by qPCR
Unknown
Unknown
Unknown
CFHR3,CFHR1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-144
Not tested by qPCR
Unknown
Unknown
Unknown
CFHR1,CFHR4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-301
Not tested by qPCR
Unknown
Unknown
Unknown
CFHR1,CFHR4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-210a2
Not tested by qPCR
Unknown
Unknown
Unknown
CFHR1,CFHR4
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
qPCR
Maternal
Unknown
Unknown
CFHR4,CFHR2
sanders_11_ASD_discovery_cases-11000.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11453.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11519.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KCNT2
sanders_11_ASD_discovery_cases-11568.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11572.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11581.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11942.p1
Unknown
Simplex (quad-proband matched)
Segregated
CFH
sanders_11_ASD_discovery_cases-12261.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12604.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13196.p1
Maternal
Simplex (quad-proband matched)
Not segregated
yin_16_ASD_discovery_cases-case45
Unknown
Unknown
Unknown
CFHR2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036024768_
Unknown
engchuan_15_ASD_discovery_controls-controlB247954_1007854082
Unknown
engchuan_15_ASD_discovery_controls-controlB329167_0067942632
Unknown
engchuan_15_ASD_discovery_controls-controlB410474_1007853687
Unknown
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
Unknown
engchuan_15_ASD_discovery_controls-controlB599757_1007875362
Unknown
engchuan_15_ASD_discovery_controls-controlB641961_1007872279
Unknown
engchuan_15_ASD_discovery_controls-controlB737833_1007875235
Unknown
engchuan_15_ASD_discovery_controls-controlB835590_0057060979
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900053_900053
Unknown
RNU6-983P
engchuan_15_ASD_discovery_controls-controlHABC_900998_900998
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901077_901077
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901097_901097
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901259_901259
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902959_900544
Unknown
itsara_10_ASD_discovery_controls_2-593
aCGH (custom NimbleGen 12 X 135)
De novo
CFHR4
kanduri_15_ASD_discovery_controls-control_split164
Unknown
CFHR4
kanduri_15_ASD_discovery_controls-control_split341
Unknown
CFH,CFHR1,CFHR3,CFHR4
kanduri_15_ASD_discovery_controls-control_split669
Unknown
CFHR4
krumm_15_ASD_discovery_controls-control14327.s1
Omni2.5-4v1
Paternal
KCNT2
sanders_11_ASD_discovery_controls-11000.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11367.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11439.s1
Maternal
Simplex (quad)
NA
KCNT2
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11519.s1
Maternal
Simplex (quad)
NA
KCNT2
sanders_11_ASD_discovery_controls-11572.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11581.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11857.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available