6q14.1CNV Type: Deletion-Duplication
Largest CNV size: 248068 bp
Statistics Box:
Number of Reports: 25
Number of Reports: 25
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
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.
Duplication
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
200915
0
1
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
1372
1
0
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
63528
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
199440
6
7
13
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
3257307
1
1
2
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
73290
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
318894
0
2
2
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
244001
1
2
3
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
794057
1
0
1
kampmeier_23_ASD/DD/ID_discovery_cases
Individuals with 6q14.1 deletions affecting the PHIP gene from an initial cohort of 23 previously unreported individuals with PHIP-associated Chung-Jansen syndrome.
5
All five cases presented with developmental delay (DD) and intellectual disability (ID), while one case also presented with autism spectrum disorder (ASD).
Range, 5-54 yrs.
40% Male
4198975
4
0
4
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
22375
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
113070
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
61078
0
1
1
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
55812
1
0
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
60549
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
66121
3
1
4
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
46000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
51012
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
41315
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
37261
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
169573
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
40907
2
0
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
248068
143
8
151
siu_16_ASD_discovery_cases
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
68
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Range, 2-33 yrs. (median age of 25 yrs.)
88.23% Male
640000
0
1
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
60548
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
61091
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
2545
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
252037
2
10
12
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
724872
4
2
6
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
62570
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
40907
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.
89437
120
2
122
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gai_11_ASD_replication_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
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
kampmeier_23_ASD/DD/ID_discovery_cases
NA
CMA
NA
NA
NA
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
siu_16_ASD_discovery_cases
Hong Kong
aCGH
NimbleGen CGX-135K
DEVA, Genoglyphix
None
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: birth weight < 3rd %ile, length < 3rd %ile, OFC 10th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: club feet. Behavioral/psychiatric evaluation: ASD. Additional medical history: testicular ectopia, renal duplication. Dysmorphic features: delayed dental eruption. Family history: father's phenotype was not reported.
Learning disabilities
75511838
75712752
200915
GRCh38
Duplication
No
brandler_18_ASD_discovery_cases-caseSSC09242
N/A
F
ASD
Case from SSC_phase1 cohort
82204379
82205751
1373
GRCh38
Deletion
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
78259336
78322863
63528
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18178_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81003798
81173370
169573
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1948_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82812430
82849690
37261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20108_1501002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81609457
81669858
60402
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2284_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82812430
82849690
37261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3307_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80798694
80847284
48591
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3446_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76906862
76997497
90636
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4146_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
78138380
78337820
199441
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5200_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
75490798
75567580
76783
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5214_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77616376
77648058
31683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5271_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
76859917
76906862
46946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5399_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77608133
77651453
43321
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6050_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
77616376
77657433
41058
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8654_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81003798
81173370
169573
GRCh38
Duplication
No
engwerda_18_ASD/DD/ID_discovery_cases-caseId116
N/A
N/A
Developmental delay and intellectual disability
Developmental delay
Borderline intellectual disability (IQ 70-85)
78236189
81493496
3257308
GRCh38
Deletion
No
engwerda_18_ASD/DD/ID_discovery_cases-caseId116
N/A
N/A
Developmental delay and intellectual disability
Developmental delay
Borderline intellectual disability (IQ 70-85)
75953096
76714745
761650
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0046673
N/A
M
ASD
Family history: both parents are negative for ASD and unknown for other mental health diagnoses.
78885312
78958601
73290
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU056805
Autism
78393525
78712418
318894
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU0934304
Autism
77332317
77534968
202652
Unknown
Duplication
No
gazzellone_14_ASD_discovery_cases-case545-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
77504823
77583681
78859
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case560-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
80175074
80288185
113112
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case560-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
79400579
79644580
244002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003843
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80332710
81126767
794058
GRCh38
Deletion
Yes
kampmeier_23_ASD/DD/ID_discovery_cases-case10
39 yrs.
F
Developmental delay, intellectual disability, and seizures
Birth/neonatal history: small for gestational age with a birth weight of 2500 g (<1st %ile); birth length 52 cm (82nd %ile) and birth OFC 33.5 cm (24th %ile); hospital admissin due to dehydratation and jaundice; neonatal feeding difficulties. Developmental milestones: developmental delay (sitting at 10 months, walking at 22 months, talking at 30 months). Motor and musculoskeletal evaluation: muscular hypotonia. Behavioral/psychiatric evaluation: well behaved, depressive behavior. Epilepsy/seizures: seizures. Additional medical history: diabetes (at 37 years of age), recurrent otitis. Dysmorphic features: prominent eyebrows, large ears/earlobes, synophrys, deep-set eyes, thick alae nasi, short philtrum, short neck, high palate. Growth parameters: height 168 cm (74th %ile; 1.3 SD), weight 99.2 g (>99th %ile, +0.65 SD) and OFC 53.3 cm (6th %ile; -1.6 SD) at 39 years of age; obesity with a BMI 24.3 (84th %ile; 1.01 SD) with onset at 8 years.
Intellectual disability (FSIQ 58)
75376370
79575344
4198975
GRCh38
Deletion
No
kampmeier_23_ASD/DD/ID_discovery_cases-case15
37 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: birth length 49 cm (10th %ile) and birth weight 2950 g (10th %ile); 2-3 toe syndactyly noted as a neonate. Developmental milestones: developmental delay, especially language delay (walking at 14 months, talking at 24 months). Motor and musculoskeletal evaluation: brachydactyly; motor retardation, clumsiness. Behavioral/psychiatric evaluation: aggressive and destructive behavior, difficulties in social interaction. Dysmorphic features: prominent eyebrows, large ears/earlobes, anteverted nares, deep-set eyes, short nose, accentuated lips, high palate. Growth parameters: macrocephaly with OFC 60 cm (1.5 cm >97th %ile) at 36 years; height 181 cm (50th %ile) at 36 years; obesity with onset at puberty.
Intellectual disability
79036089
79477340
441252
GRCh38
Deletion
No
kampmeier_23_ASD/DD/ID_discovery_cases-case3
5 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: birth length 50 cm (20th %ile), birth weight 2980 g (12th %ile), birth OFC 34.5 cm (27th %ile); neonatal feeding difficulties. Developmental milestones: developmental delay (walking at 18 months, talking at 15 months). Motor and musculoskeletal evaluation: tapering fingers, fifth finger clinodactyly, brachydactyly, sandal gap. Behavioral/psychiatric evaluation: aggressive behavior. Dysmorphic features:. prominent eyebrows, broad nasal tip, synophrys. Growth parameters: height 109 cm (13th %ile), weight 23 g (80th %ile), and OFC 49.2 cm (9th %ile) at 5 years of age; obesity (BMI 19.4 kg m2; 97th %ile, +1.88 SD) with onset at 4-5 years of age. Family history: deletion inherited from a mildly affected parent.
Intellectual disability (FSIQ 53)
79010208
79061164
50957
GRCh38
Deletion
No
kampmeier_23_ASD/DD/ID_discovery_cases-case4
13 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: birth length 48 cm (36th %ile), birth weight 2360 g (13th %ile), birth OFC 33 cm (35th %ile); neonatal feeding difficulties. Developmental milestones: developmental delay (walking at 26 months, talking at 24 months). Motor and musculoskeletal evaluation: balance problems. Behavioral/psychiatric evaluation: cannot stand having many people around. Additional medical history: encopersis, constipation, myopia. Dysmorphic features: prominent eyebrows, antevered nares, broad nasal tip, long philtrum, short nose. Growth parameters: height 150 cm (5th %ile) at 13 years; macrocephaly with OFC 57 cm (98th %ile, +2.07 SD) at 13 years; obesity (BMI N/A) with onset at 5-6 years of age. Family history: deletion inherited from a mildly affected parent.
Intellectual disability (FSIQ 60)
79060590
80744609
1684020
GRCh38
Deletion
No
kanduri_15_ASD_discovery_cases-case1869
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.
79002739
79011176
8438
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3017
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.
79006993
79029367
22375
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case12948.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
75602524
75715594
113071
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2096
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
79014497
79075574
61078
GRCh38
Duplication
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
78267950
78323761
55812
GRCh38
Deletion
No
leblond_12_ASD_replication_cases-Pintocase6319_3
NA
M
PDD-NOS
ADI-R domain scores: social, 14; communication, 8; behaviors, 2; age at first symptoms <36 months. Developmental milestones: delayed langauge (1st words at 24 months, 1st sentences at 48 months); no history of regression. Language and communication evaluation: delayed but functional language. Epilepsy/seizures: no history of epilepsy. Neurological examination: normal. Dysmorphic features: large and prominent ears, flat feet. Other comorbid medical conditions: hypermetropia.
Mild intellectual disability (ID). WISC-III IQ scores: full-scale IQ, 60; performance IQ, 60; verbal IQ, 67.
78263213
78323761
60549
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
76730151
76743087
12937
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
78259348
78325468
66121
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
76730151
76743087
12937
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
78259348
78325468
66121
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown182
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
79656564
79702564
46001
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0272-003
NA
F
ASD
NA
NA
76856484
76907496
51013
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-209-1
ASD
81572137
81613451
41315
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case1948_301
NA
M
ASD
NA
NA
82812430
82849690
37261
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case18178_302
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
81003798
81173370
169573
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case70721
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77632195
77673101
40907
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93919L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
81646013
81676488
30476
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
80567009
80583365
16357
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
82293375
82337434
44060
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
80574790
80583365
8576
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
76607966
76614978
7013
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
79848763
79859287
10525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11135.p1
6.3
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11145.p1
5.9
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11212.p1
16.1
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
79898577
79901899
3323
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
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11246.p1
8.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11254.p1
9.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11350.p1
9.1
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
80574790
80588971
14182
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11363.p1
5.9
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 78; verbal IQ 77
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
76308442
76311642
3201
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11414.p1
12.7
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11425.p1
9.7
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
80806179
80847284
41106
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11432.p1
6.5
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
79854802
79862484
7683
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11471.p1
13.9
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 89; verbal IQ, 31
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
77616376
77623176
6801
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11546.p1
11.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11625.p1
11.6
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11645.p1
8.7
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 105; verbal IQ, 77
77616376
77623176
6801
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
79848763
79859287
10525
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11693.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 76; verbal IQ, 88
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11707.p1
13.5
M
Autism
NA
Full-scale IQ, 19; non-verbal IQ, 23; verbal IQ, 16
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11740.p1
11.7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 89; verbal IQ, 115
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
81003798
81173370
169573
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11797.p1
15.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 116
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11809.p1
6.6
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
77617932
77627089
9158
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
80574790
80584120
9331
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
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
77616376
77627089
10714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12020.p1
17.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 115; verbal IQ, 114
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
76607966
76618116
10151
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12074.p1
6.3
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 79
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12086.p1
14.5
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12219.p1
7.2
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
75546332
75555926
9595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12232.p1
7.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12247.p1
4.7
M
ASD
NA
Full-scale IQ, 109; non-verbal IQ, 111; verbal IQ, 104
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12271.p1
10.5
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
82812430
82849690
37261
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12281.p1
4.3
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 99; verbal IQ, 117
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12312.p1
5.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 80; verbal IQ, 70
80806179
80847284
41106
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12325.p1
9.5
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 81
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12361.p1
4.8
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 98
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12385.p1
13.6
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12392.p1
7
M
ASD
NA
Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12543.p1
8.9
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12573.p1
17
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
80231002
80252031
21030
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12622.p1
15.1
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 97; verbal IQ, 70
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12630.p1
9.8
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 115; verbal IQ, 134
78092107
78124269
32163
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12630.p1
9.8
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 115; verbal IQ, 134
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12642.p1
11.1
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 113
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12643.p1
10.6
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 70; verbal IQ, 40
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12644.p1
10.7
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
82812430
82849690
37261
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12648.p1
9.8
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12669.p1
16.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 91; verbal IQ, 120
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
75631213
75638300
7088
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12781.p1
5.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 75
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
76914390
76915549
1160
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12869.p1
5.2
F
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
77616376
77627089
10714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12930.p1
12.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
75524352
75772419
248068
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12989.p1
7.1
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 88
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
78095671
78124269
28599
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13043.p1
6.2
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13146.p1
10.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 107; verbal IQ, 104
77852197
77882659
30463
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
76607966
76614978
7013
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
80574790
80583365
8576
GRCh38
Deletion
No
siu_16_ASD_discovery_cases-patient14
Pediatric (2-15 yrs.)
M
ASD and developmental delay
Diagnosis of ASD confirmed using ADI-R. Additional clinical features: developmental delay, developmental regression, asthma, severe eczema.
IQ N/A
82134433
82777274
642842
GRCh38
Duplication
No
tabet_12_ASD_discovery_cases-patient1
21 yrs.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50
78263213
78323761
60549
GRCh38
Deletion
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
78263213
78323761
60549
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
76730151
76743087
12937
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
78257921
78319011
61091
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
brandler_18_ASD_replication_controls-controlSSC07622
N/A
M
control
Control from SSC_phase2 cohort
82198996
82201540
2545
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018737_
N/A
N/A
Control
No previous psychiatric history
80193133
80317182
124050
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB243734_1007872282
N/A
N/A
Control
No previous psychiatric history
80806179
80847284
41106
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB308284_1007874263
N/A
N/A
Control
No previous psychiatric history
75329178
75526345
197168
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
N/A
N/A
Control
No previous psychiatric history
80268023
80341219
73197
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB564239_1007853955
N/A
N/A
Control
No previous psychiatric history
81947362
82002124
54763
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
N/A
N/A
Control
No previous psychiatric history
80798694
80847284
48591
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752395_1007874665
N/A
N/A
Control
No previous psychiatric history
80806179
80847284
41106
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
N/A
N/A
Control
No previous psychiatric history
80798694
80847284
48591
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900038_900038
N/A
N/A
Control
No previous psychiatric history
82812430
82849690
37261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902534_902534
N/A
N/A
Control
No previous psychiatric history
79527790
79778873
251084
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
N/A
N/A
Control
No previous psychiatric history
82812430
82849690
37261
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902821_902821
N/A
N/A
Control
No previous psychiatric history
79527790
79779827
252038
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split130
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
80564519
80566234
1716
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1797
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
79002739
79011176
8438
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1863
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
80564519
80566234
1716
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1929
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
81522847
81543810
20964
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split198
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
80564519
81289390
724872
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split365
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
79006993
79029367
22375
Unknown
Deletion
No
leblond_19_ASD_discovery_controls-siblingPN400527
N/A
M
Control
Unaffected sibling of an ASD case
78998237
79060808
62572
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11000.s1
16.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11023.s1
10.4
F
Control (matched sibling)
NA
NA
75546332
75555926
9595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
76306629
76314948
8320
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11079.s1
13.4
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11092.s1
10.5
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11168.s1
7.9
M
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11176.s1
8.8
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11193.s1
4.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
79898577
79901899
3323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11247.s1
4.7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11329.s1
6.9
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11352.s1
7.5
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11357.s1
4.7
F
Control (matched sibling)
NA
NA
75663558
75752994
89437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
80563179
80584120
20942
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
80806179
80847284
41106
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11432.s1
8.1
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11437.s1
18.4
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11441.s1
4.3
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
80564619
80583365
18747
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11501.s1
13.4
M
Control (matched sibling)
NA
NA
80567009
80583365
16357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
80567009
80583365
16357
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11546.s1
11.2
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11552.s1
6
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11642.s1
7.6
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
79848763
79859287
10525
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11721.s1
6.9
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11797.s1
12.2
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11808.s1
12.2
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11809.s1
8.4
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11946.s1
12.9
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12029.s1
12.6
M
Control (matched sibling)
NA
NA
77616376
77623176
6801
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
80826880
80847284
20405
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12068.s1
14.1
M
Control (matched sibling)
NA
NA
77616376
77623176
6801
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
80231002
80252031
21030
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12223.s1
10.9
F
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
76306629
76314948
8320
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12271.s1
9.1
M
Control (matched sibling)
NA
NA
82812430
82849690
37261
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12303.s1
5.8
F
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
76607966
76618116
10151
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12334.s1
4.2
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12437.s1
14.1
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
77616376
77627089
10714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
76607966
76614978
7013
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12630.s1
8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12642.s1
9.3
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12644.s1
8.1
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
79898577
79902036
3460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12782.s1
12.9
F
Control (matched sibling)
NA
NA
75537796
75555926
18131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12798.s1
8.1
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
77616376
77627089
10714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12867.s1
18.8
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
79263721
79271674
7954
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12902.s1
14.3
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12908.s1
7.6
M
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12989.s1
11.4
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13007.s1
19.8
F
Control (matched sibling)
NA
NA
77616376
77627089
10714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13088.s1
13.8
F
Control (matched sibling)
NA
NA
76308442
76314948
6507
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
80574790
80584120
9331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
80574790
80583365
8576
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case37
Paternal
Unknown
RNU6-1338P,RNU6-1016P,RN7SKP163,SENP6
brandler_18_ASD_discovery_cases-caseSSC09242
PCR or SNP data validation
Paternal
IBTK
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
engchuan_15_ASD_discovery_cases-case18178_302
Unknown
engchuan_15_ASD_discovery_cases-case1948_301
Unknown
engchuan_15_ASD_discovery_cases-case20108_1501002
Unknown
RNA5SP210,TENT5A
engchuan_15_ASD_discovery_cases-case2284_1
Unknown
engchuan_15_ASD_discovery_cases-case3307_3
Unknown
engchuan_15_ASD_discovery_cases-case3446_3
Unknown
engchuan_15_ASD_discovery_cases-case4146_1
Unknown
engchuan_15_ASD_discovery_cases-case5200_3
Unknown
RPL26P20,FILIP1
engchuan_15_ASD_discovery_cases-case5214_3
Unknown
engchuan_15_ASD_discovery_cases-case5271_3
Unknown
engchuan_15_ASD_discovery_cases-case5399_3
Unknown
MEI4
engchuan_15_ASD_discovery_cases-case6050_4
Unknown
MEI4
engchuan_15_ASD_discovery_cases-case8654_201
Unknown
engwerda_18_ASD/DD/ID_discovery_cases-caseId116
No validation reported
Unknown
HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,HMGN3,LCA5,LINC01621,ELOVL4,TTK,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,TENT5A,SH3BGRL2
engwerda_18_ASD/DD/ID_discovery_cases-caseId116
No validation reported
Unknown
RNU6-248P,RNU6-261P,RNU6-84P,IMPG1,LINC02540
feliciano_19_ASD_discovery_cases-caseSP0046673
Paternal
Simplex
IRAK1BP1,PHIP
null
gai_11_ASD_replication_cases-AU056805
Inherited
0 genes
gai_11_ASD_replication_cases-AU0934304
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case545-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case560-3
Unknown
Unknown
Unknown
BCKDHB
gazzellone_14_ASD_discovery_cases-case560-3
Unknown
Unknown
Unknown
DBIP1,LCA5,SH3BGRL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003843
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPL17P25,RPSAP72,BCKDHB
kampmeier_23_ASD/DD/ID_discovery_cases-case10
De novo
DBIP1,FILIP1,PHIP,LCAL1,IRAK1BP1,LCA5,IMPG1,HTR1B,RPS6P7,MYO6,RPL26P20,UBE2V1P15,HMGN3-AS1,MIR4463,RNA5SP209,MEI4,LINC02540,RN7SKP163,RNU6-84P,RNU6-1338P,RNU6-1016P,RNU6-248P,RNU6-155P,RNU6-261P,RNU1-34P,H3P27,HMGN3,SENP6
kampmeier_23_ASD/DD/ID_discovery_cases-case15
Unknown (not maternal)
DBIP1,PHIP,LCAL1,HMGN3-AS1,HMGN3
kampmeier_23_ASD/DD/ID_discovery_cases-case3
Paternal
Paternal
PHIP
kampmeier_23_ASD/DD/ID_discovery_cases-case4
Maternal
Maternal
BCKDHB,DBIP1,PHIP,SH3BGRL2,LCAL1,LINC01621,LCA5,RPL17P25,GAPDHP63,RPL35AP18,HMGN3-AS1,AK4P5,TTK,ELOVL4,RPSAP72,HMGN3
kanduri_15_ASD_discovery_cases-case1869
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, MEI4(dist=368263),IRAK1BP1(dist=566085)
kanduri_15_ASD_discovery_cases-case3017
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, MEI4(dist=372517),IRAK1BP1(dist=547894)
krumm_15_ASD_discovery_cases-case12948.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
RNU6-1016P,RN7SKP163,SENP6
kushima_22_SCZ_discovery_cases-caseSCZ2096
qRT-PCR
Unknown
PHIP
leblond_12_ASD_discovery_cases-AUGB038_3
Paternal
Simplex
leblond_12_ASD_replication_cases-Pintocase6319_3
Maternal
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
maini_18_ASD/DD/ID_discovery_cases-case_unknown182
Maternal
Unknown
Unknown
SH3BGRL2
marshall_08_ASD_discovery_cases-SK0272-003
qPCR, qmPCR
Unknown
NA
NA
nord_11_ASD_discovery_cases-209-1
Paternal
0 genes
pinto_10_ASD_discovery_cases-case1948_301
Illumina550
paternal
NA
NA
pinto_14_ASD_discovery_cases2-case18178_302
qPCR
Maternal
Simplex
(not tested)
prasad_12_ASD_discovery_cases-case70721
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93919L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11012.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11014.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11031.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11053.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11069.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11079.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11080.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11135.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11145.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11212.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11225.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11246.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11249.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11254.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11294.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11350.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11352.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11363.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11372.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11390.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11414.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11425.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11432.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11445.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11447.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11471.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11501.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11546.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11601.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11609.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11625.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11645.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11653.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11659.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11681.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11693.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11698.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11707.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11740.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11740.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11765.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11797.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11809.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11868.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11913.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11922.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11942.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11946.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11964.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11981.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11999.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12008.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12020.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12032.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12066.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12072.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12074.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12081.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12086.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12087.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12194.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12219.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12229.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12232.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12240.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12247.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12271.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12274.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12281.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12312.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12325.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12361.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12385.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12392.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12423.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12515.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12543.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12573.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12597.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12613.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BCKDHB
sanders_11_ASD_discovery_cases-12622.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12630.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12630.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12642.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12643.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12644.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12648.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12648.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12652.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12655.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12656.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12669.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12695.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12758.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12764.p1
Both parents
Simplex (quad-proband matched)
Not segregated
SENP6
sanders_11_ASD_discovery_cases-12780.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12781.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12798.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12832.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12869.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12894.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12925.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12930.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Paternal
Simplex (trio)
NA
RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,SENP6,MYO6
sanders_11_ASD_discovery_cases-12956.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12977.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12989.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13014.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13019.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13039.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13043.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13063.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13088.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13146.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
MEI4
sanders_11_ASD_discovery_cases-13175.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13222.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13266.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13327.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13337.p1
Paternal
Simplex (trio)
NA
siu_16_ASD_discovery_cases-patient14
Unknown
Unknown
Unknown
RNU6-130P,TPBG,IBTK
tabet_12_ASD_discovery_cases-patient1
Paternal
Multiplex
Unknown
tabet_12_ASD_discovery_cases-patient2
Paternal
Multiplex
Unknown
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Possibly segregated (present in affected sister, status in unaffected brother unknown)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC07622
No validation step reported
Maternal
IBTK
engchuan_15_ASD_discovery_controls-control110036018737_
Unknown
BCKDHB
engchuan_15_ASD_discovery_controls-controlB243734_1007872282
Unknown
engchuan_15_ASD_discovery_controls-controlB308284_1007874263
Unknown
MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,FILIP1
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Unknown
BCKDHB
engchuan_15_ASD_discovery_controls-controlB564239_1007853955
Unknown
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
Unknown
engchuan_15_ASD_discovery_controls-controlB752395_1007874665
Unknown
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900038_900038
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902534_902534
Unknown
LCA5,SH3BGRL2
engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902821_902821
Unknown
LCA5,SH3BGRL2
kanduri_15_ASD_discovery_controls-control_split130
Unknown
C6orf7 (intronic)
kanduri_15_ASD_discovery_controls-control_split1797
Unknown
Intergenic CNV: nearest genes, MEI4(dist=368263),IRAK1BP1(dist=566085)
kanduri_15_ASD_discovery_controls-control_split1863
Unknown
C6orf7 (intronic)
kanduri_15_ASD_discovery_controls-control_split1929
Unknown
Intergenic CNV: nearest genes, BCKDHB(dist=466860),FAM46A(dist=911637)
kanduri_15_ASD_discovery_controls-control_split198
Unknown
BCKDHB,C6orf7,ELOVL4,TTK
kanduri_15_ASD_discovery_controls-control_split365
Unknown
Intergenic CNV: nearest genes, MEI4(dist=372517),IRAK1BP1(dist=547894)
leblond_19_ASD_discovery_controls-siblingPN400527
Unknown
PHIP
sanders_11_ASD_discovery_controls-11000.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11000.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11012.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11014.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11023.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11053.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11069.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11079.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11092.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11168.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11176.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11193.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11207.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11212.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11233.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11247.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11254.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11285.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11328.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11329.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11336.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11350.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11352.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11357.s1
Unknown
Simplex (quad)
NA
SENP6,MYO6
sanders_11_ASD_discovery_controls-11360.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11366.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11390.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11414.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11414.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11432.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11437.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11441.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11479.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11501.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11512.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11546.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11552.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11642.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11659.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11721.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11740.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11766.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11768.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11797.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11808.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11809.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11892.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11924.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11946.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11981.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12029.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12048.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12068.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Unknown
Simplex (quad)
NA
BCKDHB
sanders_11_ASD_discovery_controls-12091.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12154.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12170.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12219.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12223.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12247.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12252.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12271.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12303.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12313.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12317.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12325.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12334.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12363.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12437.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12534.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12596.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12613.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12630.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12642.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12644.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12650.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12722.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12782.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12851.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12852.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12852.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12858.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12867.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12902.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12908.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12930.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12989.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13007.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13039.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13083.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13088.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13175.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13196.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13327.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available