1p36.22CNV Type: Deletion-Duplication
Largest CNV size: 84003 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
461
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
833
0
1
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
2203394
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
150352
1
15
16
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
1856306
3
2
5
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
21651
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
38033
0
4
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47026
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
61000
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
84003
0
3
3
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
16737
1
2
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
14992
7
1
8
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
1082423
1
0
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
75420
0
2
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
84002
18
6
24
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
6044
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
111214
1
14
15
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
21651
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
10171
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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.
164212
0
2
2
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
11365
1
1
2
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)
14992
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.
84002
9
6
15
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
17845
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC08564
N/A
M
ASD
Case from SSC cohort
10817399
10817860
462
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
9292866
9293699
834
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case746
F
Developmental delay and intellectual disability
Failure to thrive, developmental delay, conduct disorder, facial dysmorphism, prominent nasal septum and retrognathia
Intellectual disability
9520668
11724061
2203394
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1260_10
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13099_1163
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10933670
10993044
59375
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13149_1663
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9255788
9336876
81089
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13228_2483
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14127_2220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14367_4800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9319634
61293
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21023_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9336876
75695
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3479_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4299_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4322_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9910721
10061073
150353
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4457_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9346920
88579
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5347_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5520_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6009_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9340809
82468
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6242_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8680_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9261182
9336876
75695
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002062
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11737130
12169786
432657
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10637036
11293430
656395
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004112
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11684360
11885011
200652
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004846
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10203955
12060262
1856308
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005188
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11684360
11885011
200652
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12498.p1
N/A
M
ASD
ASD proband from SSC quad family 12498. SRS score of 90.
Full-scale IQ (FSIQ) score of 65.
11960645
11967091
6447
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12618.p1
N/A
M
ASD
ASD proband from SSC quad family 12618. SRS score of 90.
Full-scale IQ (FSIQ) score of 106.
11074230
11095881
21652
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
12579292
12617348
38057
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12083.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
11745802
11750192
4391
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12175.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
10374315
10403136
28822
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
11960645
11967091
6447
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12083.p1
NA
M
ASD
NA
NA
11733321
11780346
47026
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case6801
NA
ASD
NA
NA
9267000
9328000
61000
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case1260_10
NA
M
ASD
NA
NA
9258342
9342344
84003
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5347_3
NA
M
Autism
Language delay, no epilepsy, no dysmorphic features
Average IQ
9261182
9342344
81163
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5520_3
NA
M
ASD
NA
NA
9261182
9342344
81163
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2215A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU064004; NDAR ID NDAR_INVVA161FE2)
11963530
11970818
7289
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0372A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU016705; NDAR ID N/A)
9553624
9570360
16737
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0489B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU014505; NDAR ID NDAR_INVHD431YKU)
11964173
11967093
2921
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case129914
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10421536
10436527
14992
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146440L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10018692
10025053
6362
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154264L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10365184
10372158
6975
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case155486L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10018692
10025053
6362
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50002
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10018692
10025053
6362
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case53664
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11278479
11285621
7143
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66673
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11912293
11921745
9453
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case86474
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
10018692
10025053
6362
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case18969
NA
NA
ASD
NA
NA
10075582
11158005
1082423
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1257-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
9261182
9336601
75420
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-473a1
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
9263851
9336876
73026
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
9258342
9342344
84003
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
12205518
12207594
2077
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
9261182
9336876
75695
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
11748649
11751226
2578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
11076781
11124579
47799
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
11734496
11778791
44296
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12102.p1
5.1
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
10647649
10654854
7206
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
9261182
9335202
74021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12317.p1
6.8
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
9833315
9836943
3629
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
11747913
11751226
3314
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
9787704
9795471
7768
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
9261182
9342344
81163
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
10310254
10317163
6910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13067.p1
5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
12080531
12110917
30387
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
9263851
9336876
73026
GRCh38
Duplication
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-controlSSC07072
N/A
M
control
Control from SSC_phase2 cohort
10351753
10357796
6044
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036016038_
N/A
N/A
Control
No previous psychiatric history
10933670
10993044
59375
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036016566_
N/A
N/A
Control
No previous psychiatric history
9225662
9336876
111215
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
N/A
N/A
Control
No previous psychiatric history
9258342
9336876
78535
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB418695_1007840289
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB536696_1007853709
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB646037_1007875322
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB728427_1007854311
N/A
N/A
Control
No previous psychiatric history
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB825605_1007852621
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
N/A
N/A
Control
No previous psychiatric history
9261182
9336876
75695
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901043_901043
N/A
N/A
Control
No previous psychiatric history
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901069_901069
N/A
N/A
Control
No previous psychiatric history
9258342
9342344
84003
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
N/A
N/A
Control
No previous psychiatric history
9263851
9342344
78494
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902680_902680
N/A
N/A
Control
No previous psychiatric history
9261182
9342344
81163
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12498.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12498. SRS score of 38.
11960645
11970816
10172
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12618.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12618. SRS score of 42.
11074230
11095881
21652
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12498.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
11960645
11970816
10172
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27651
Control
10367894
10532105
164212
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27853
Control
9481731
9507539
25809
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C36011A
N/A
F
Control
NIMH Control (NIMH ID 71721)
11960644
11970818
10175
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C39664
N/A
M
Control
NIMH Control (NIMH ID 29934)
11649943
11661307
11365
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
9261182
9342344
81163
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
9258342
9342344
84003
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
10649384
10680569
31186
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
10059763
10065707
5945
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
9258342
9342344
84003
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
9263851
9342344
78494
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
9261182
9336876
75695
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
10309488
10317163
7676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
9258342
9336876
78535
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
N/A
N/A
Control
Control is from a dizygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
9246973
9264817
17845
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC08564
PCR
De novo
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
SPSB1
chaves_24_ASD/DD/ID_discovery_cases-case746
Unknown
DFFA,CORT,FBXO6,UBIAD1,CASZ1,CTNNBIP1,DISP3,NMNAT1,LZIC,SLC25A33,FBXO44,RBP7,C1orf127,TMEM201,MTOR,DRAXIN,CENPS,CFL1P6,PIK3CD-AS1,RPL39P6,UBE2V2P3,PGAM1P11,CENPS-CORT,MIR5697,MTOR-AS1,PGD,PEX14,PIK3CD,EXOSC10,LINC01647,PIK3CD-AS2,EXOSC10-AS1,RNU6-37P,SRM,RNU6-828P,HSPE1P24,MZT1P1,RNU6-537P,RNU6-291P,RN7SL614P,RN7SKP269,RN7SL731P,MTCYBP45,TMEM274P,ANGPTL7,MASP2,UBE4B,MAD2L2,CLSTN1,TARDBP,FBXO2,KIF1B
engchuan_15_ASD_discovery_cases-case1260_10
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case13099_1163
Unknown
CFL1P6,C1orf127
engchuan_15_ASD_discovery_cases-case13149_1663
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case13228_2483
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case14127_2220
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case14367_4800
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case21023_1
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case3479_3
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case4299_1
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case4322_1
Unknown
RN7SKP269,MIR5697,PGAM1P11,LZIC,RBP7,NMNAT1,UBE4B
engchuan_15_ASD_discovery_cases-case4457_1
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case5347_3
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case5520_3
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case6009_4
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case6242_4
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_cases-case8680_201
Unknown
H6PD,SPSB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002062
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,MTHFR,TNFRSF1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004109
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,CASZ1,MTOR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004112
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPPA,NPPB,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,MTHFR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004846
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,KIF1B,CASZ1,MTOR,FBXO6,MTHFR,PEX14,DISP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005188
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NPPA,NPPB,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,MTHFR
krumm_13_ASD_discovery_cases-case12498.p1
Maternal
Simplex
Not segregated
PLOD1
krumm_13_ASD_discovery_cases-case12618.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
EXOSC10
krumm_15_ASD_discovery_cases-case11512.p1
Illumina 1M
Paternal
Simplex
Segregated
DHRS3
krumm_15_ASD_discovery_cases-case12083.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
AGTRAP
krumm_15_ASD_discovery_cases-case12175.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PGD,KIF1B
krumm_15_ASD_discovery_cases-case12498.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PLOD1
levy_11_ASD_discovery_cases-12083.p1
Maternal
Simplex
Segregated
AGTRAP,C1orf167
morrow_08_ASD_discovery_cases-case6801
Maternal
NA
NA
SPSB1
pinto_10_ASD_discovery_cases-case1260_10
Illumina550
paternal
NA
NA
H6PD,SPSB1
pinto_10_ASD_discovery_cases-case5347_3
Agilent1M
paternal
Simplex
NA
H6PD,SPSB1
pinto_10_ASD_discovery_cases-case5520_3
Agilent1M
maternal
NA
NA
H6PD,SPSB1
poultney_13_ASD_discovery_cases-case01HI2215A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PLOD1
poultney_13_ASD_discovery_cases-case98HI0372A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SLC25A33
poultney_13_ASD_discovery_cases-case98HI0489B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PLOD1
prasad_12_ASD_discovery_cases-case129914
Unknown
Unknown
Unknown
CORT,APITD1-CORT,APITD1
prasad_12_ASD_discovery_cases-case146440L
Unknown
Unknown
Unknown
UBE4B
prasad_12_ASD_discovery_cases-case154264L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case155486L
Unknown
Unknown
Unknown
UBE4B
prasad_12_ASD_discovery_cases-case50002
Unknown
Unknown
Unknown
UBE4B
prasad_12_ASD_discovery_cases-case53664
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case66673
Unknown
Multiplex
Unknown
PLOD1
prasad_12_ASD_discovery_cases-case86474
Unknown
Unknown
Unknown
UBE4B
rosenfeld_10_ASD_discovery_cases-case18969
FISH
Unknown
Unknown
Unknown
UBE4B,KIF1B,PGD,APITD1-CORT,APITD1,CORT,DFFA,PEX14,CASZ1,C1orf127,TARDBP,MASP2,SRM,EXOSC10,MTOR
sajan_13_ACC/CBLH/PMG_discovery_cases-case1257-0
Not tested by qPCR
Unknown
Unknown
Unknown
H6PD,SPSB1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-473a1
Not tested by qPCR
Unknown
Unknown
Unknown
H6PD,SPSB1
sanders_11_ASD_discovery_cases-11014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
H6PD,SPSB1
sanders_11_ASD_discovery_cases-11033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-11691.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TNFRSF1B
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Segregated
H6PD,SPSB1
sanders_11_ASD_discovery_cases-11986.p1
Paternal
Simplex (quad-proband matched)
Not segregated
AGTRAP
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
EXOSC10,MTOR
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
KIF1B
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AGTRAP,C1orf167
sanders_11_ASD_discovery_cases-12102.p1
Paternal
Simplex (trio)
NA
KIF1B
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-12153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CASZ1
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-12266.p1
Maternal
Simplex (trio)
NA
KIF1B
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_cases-12317.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12744.p1
Unknown
Simplex (trio)
NA
AGTRAP
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
KIF1B
sanders_11_ASD_discovery_cases-12838.p1
Both parents
Simplex (quad-proband matched)
Segregated
CLSTN1
sanders_11_ASD_discovery_cases-12921.p1
Maternal
Simplex (quad-proband matched)
Not segregated
H6PD,SPSB1
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
KIF1B
sanders_11_ASD_discovery_cases-13067.p1
Unknown
Simplex (trio)
NA
RPL23AP89,TNFRSF8
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
H6PD,SPSB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC07072
No validation step reported
Maternal
KIF1B
engchuan_15_ASD_discovery_controls-control110036016038_
Unknown
CFL1P6,C1orf127
engchuan_15_ASD_discovery_controls-control110036016566_
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB191910_1007853321
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB198132_1007872242
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB418695_1007840289
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB536696_1007853709
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB646037_1007875322
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB728427_1007854311
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB825605_1007852621
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlHABC_901043_901043
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlHABC_901069_901069
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
Unknown
H6PD,SPSB1
engchuan_15_ASD_discovery_controls-controlHABC_902680_902680
Unknown
H6PD,SPSB1
krumm_13_ASD_discovery_controls-control12498.s1
Maternal
Simplex
PLOD1
krumm_13_ASD_discovery_controls-control12618.s1
Maternal
Simplex
EXOSC10
krumm_15_ASD_discovery_controls-control12498.s1
Illumina 1MDuo
Maternal
PLOD1
nord_11_ASD_discovery_controls-04C27651
APITD1,CORT,DFFA,PGD,PEX14
nord_11_ASD_discovery_controls-04C27853
0 genes
poultney_13_ASD_discovery_controls-control04C36011A
Unknown
PLOD1
poultney_13_ASD_discovery_controls-control05C39664
Unknown
FBXO44,FBXO2
sanders_11_ASD_discovery_controls-11014.s1
Maternal
Simplex (quad)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_controls-11033.s1
Paternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-11073.s1
Paternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-11415.s1
Maternal
Simplex (quad)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_controls-11439.s1
Unknown
Simplex (quad)
NA
CASZ1
sanders_11_ASD_discovery_controls-11479.s1
Maternal
Simplex (quad)
NA
UBE4B
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-12424.s1
Paternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-12921.s1
Maternal
Simplex (quad)
NA
H6PD,SPSB1
sanders_11_ASD_discovery_controls-12972.s1
Paternal
Simplex (quad)
NA
KIF1B
sanders_11_ASD_discovery_controls-13222.s1
Paternal
Simplex (quad)
NA
H6PD,SPSB1
stamouli_18_ASD/NDD_discovery_controls-family51_Twin_2
Unknown
N/A (both twins typically developing)
H6PD
No Animal Model Data Available