3q13.31CNV Type: Deletion-Duplication
Largest CNV size: 301000 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
715373
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
410000
9
0
9
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
487000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1946940
1
1
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
31640
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
31640
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47470
1
0
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
98301
0
1
1
molin_12_DD/ASD_discovery_cases
14 novel patients carrying microscopic or submicroscopic deletions in the 3q12.3-q21.3 region, and 1 previously reported 3q-deletion patient (Ogilvie et al. 1998).
15
Developmental delay present in 13/15 cases; 5/15 cases with attention deficits; 3/15 cases with autism.
Range, 1 yr. 6 mos.-19 yrs. 6 mos.
66.67% Male
1180000
2
0
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
913035
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
192185
1
0
1
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)
31644
2
0
2
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
10004
1
0
1
rasmussen_14_ASD/DD/ID_discovery_cases
Patient referred for genetic evaluation due to autism and psychomotor developmental delay
1
Diagnosis of autism using ADI-R. Developmental delay and intellectual disability assessed suing Griffith Mental Development Scales 1st Edition.
3 yrs. 11 mos.
Male
1300000
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
36365
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
43730
6
0
6
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
301000
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
45849
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
410000
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_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
31640
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
31640
1
0
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
232823
1
1
2
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
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)
31644
2
0
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)
10004
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.
236993
3
1
4
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
40962
1
0
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
45849
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
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
None
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
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
molin_12_DD/ASD_discovery_cases
NA
aCGH, array SNP
Affymetrix GeneChip 250K Nsp, Affymetrix 6.0, 1 Mb clone array, Agilent 400K, Agilent 44K, BlueGnome CytoChip V2, SpectralChip CC4-V0.3
FISH
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
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
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
rasmussen_14_ASD/DD/ID_discovery_cases
Portuguese
aCGH
Agilent Human Genome 180K
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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
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
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case41A
13 yrs.
F
Short stature
Short stature
114518185
115233557
715373
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case610
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case611
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case612
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case613
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case614
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case615
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case616
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case617
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case618
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
115518463
115928463
410001
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299972
N/A
M
Developmental delay/intellectual disability
CNV locus incorrectly reported as 3p26.3 in the original report
116694018
117180983
486966
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002775
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114530663
115439099
908437
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005324
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
114649022
116595962
1946941
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case13162.p1
N/A
M
ASD
ASD proband from SSC quad family 13162. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
113869506
113901146
31641
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13162.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113869506
113901146
31641
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12297.p1
NA
M
ASD
NA
NA
113853363
113900832
47470
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0018-000
NA
M
ASD
NA
NA
116637163
116735463
98301
GRCh38
Duplication
Yes
molin_12_DD/ASD_discovery_cases-case13
9 yrs. 6 mos.
F
Developmental delay and autism
DECIPHER ID: NA. Birth parameters: weight (g), 3490 (50-85th %ile); length (cm), NA; OFC (cm), NA. Delayed speech: yes. Behavioral problems: autism, short attention span. Hypotonia: no. Brain/CNS abnormalities: none reported. Skull abnormalities: brachycephaly. Skeletal abnormalities: flexion contracture of digiti V left hand op., pes planus, mild sandal gap digiti IV-V. Other malformations: none reported. Eye abnormalities: ptosis. Dysmorphic features: short philtrum, large ears. Growth parameters: weight (kg), 29.4 (50th %ile); height (cm), 135 (50th %ile); OFC (cm), 54.5 (90th %ile). Family history: brother with autism and IQ of 68 (karyotype of 47, XXY; lacks 3q13.31 deletion)
Developmental delay; IQ 55
114133819
114715311
581493
GRCh38
Deletion
No
molin_12_DD/ASD_discovery_cases-case14
5 yrs. 6 mos.
M
Developmental delay
DECIPHER ID: 252520. Birth parameters: weight (g), NA; length (cm), NA; OFC (cm), NA. Delayed speech: none reported. Behavioral problems: none reported. Hypotonia: none reported. Brain/CNS abnormalities: none reported. Skull abnormalities: none reported. Skeletal abnormalities: none reported. Other malformations: none reported. Eye abnormalities: none reported. Dysmorphic features: none reported. Growth parameters: weight (kg), NA; height (cm), NA; OFC (cm), NA.
Developmental delay
115721125
116896653
1175529
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case116003
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected; sibling diagnosis unaffected.
115533011
116446045
913035
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5245_3
NA
M
Autism
Language delay, below average language (1%ile), apraxia, abnormal sleep EEG without seizures; born at 29 wks, intraventricular hemorrhage, mild cerebral palsy; alopecia areata, no dysmorphic features
Below average nonverbal IQ (<1%ile)
117285007
117477191
192185
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0158A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU010904; NDAR ID NDAR_INVWN987FMF)
113869505
113901148
31644
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0361A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU002704; NDAR ID NDAR_INVXF645EXZ)
113869505
113901148
31644
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case52026
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
116104105
116114108
10004
Unknown
Deletion
Yes
rasmussen_14_ASD/DD/ID_discovery_cases-case1
3 yrs. 11 mos.
M
ASD and DD/ID
Case was diagnosed with autism using ADI-R. Birth/neonatal history: born at 40 weeks gestation; birth weight of 3160 g (50th %ile), birth length of 49 cm (50th %ile), and birth OFC of 34.5 cm (50th %ile). Language and communication evaluation: moderate speech delay (Hearing and Speech Developmental Quotient of 34). Dysmorphic features: tall forehead, downslanted palpebral fissures, bilateral epicanthus, full cheeks, thick lips, gun hypertrophy, grooved chin, large prominent ears. Growth parameters: weight of 16 kg (50th %ile), height of 105 cm (50th-85th %ile), and OFC of 49.4 cm (25th-50th %ile) at age of 3 years 11 months.
Mild intellectual disability (based on neuropsychological evaluation using Griffiths Mental Development Scales 1st Edition); mild developmental delay (Global Developmental Quotient of 54).
114850895
116149589
1298695
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
114942209
114978573
36365
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-417a1
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
114942209
114978573
36365
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
115760416
115766547
6132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
113857767
113901497
43731
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
113857767
113901497
43731
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
116130484
116172844
42361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13150.p1
8.1
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
115760416
115766547
6132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
113857767
113901497
43731
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR072-G5-HI0615
NA
ASD
NA
NA
116771463
117072463
301001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAARCP2-D11-HI0615
NA
ASD
NA
NA
116771463
117072463
301001
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case120
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
114780894
114826742
45849
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
krumm_13_ASD_discovery_controls-control13162.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13162. SRS score of 36.
113869506
113901146
31641
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13162.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113869506
113901146
31641
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11277.s1
NA
F
Control
NA
NA
115672284
115905106
232823
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12297.s1
NA
M
Control
NA
NA
113853363
113900832
47470
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C28760A
N/A
M
Control
NIMH Control (NIMH ID 97777)
113869505
113901148
31644
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C30190A
N/A
M
Control
NIMH Control (NIMH ID 54326)
113869505
113901148
31644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
117070604
117162867
92264
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
115667724
115904717
236994
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12297.s1
11.9
M
Control (matched sibling)
NA
NA
113857767
113907661
49895
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13162.s1
6.7
F
Control (matched sibling)
NA
NA
113857767
113901025
43259
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family25_Twin_1
N/A
N/A
Control
Control is from a dizygotic twin pair from the Discordant NDD diagnostic subgroup
113865123
113906084
40962
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case41A
Unknown
ZBTB20-AS2,MIR4796,YBX1P3,ZBTB20-AS4,ZBTB20-AS5,ZBTB20-AS3,ZBTB20
coe_14_ASD/DD/ID_discovery_cases-case610
De novo
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case611
De novo
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case612
De novo
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case613
De novo
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case614
Unknown
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case615
Unknown
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case616
Unknown
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case617
Unknown
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
coe_14_ASD/DD/ID_discovery_cases-case618
Unknown
Unknown
Unknown
RN7SL815P,GAP43,LSAMP
digregorio_17_DD/ID_discovery_cases-DECIPHER_299972
Maternal
MIR4447,LINC00901,RNU5E-8P,PTMAP8,TUSC7,LSAMP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002775
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,ZBTB20
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005324
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,LSAMP-AS1,RN7SL582P,GAP43,LINC00903,ZBTB20,LSAMP
krumm_13_ASD_discovery_cases-case13162.p1
Maternal
Simplex
Not segregated
GRAMD1C
krumm_15_ASD_discovery_cases-case13162.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GRAMD1C
levy_11_ASD_discovery_cases-12297.p1
Paternal
Simplex
Not segregated
GRAMD1C
marshall_08_ASD_discovery_cases-NA0018-000
qPCR, qmPCR
Unknown
NA
NA
BZW1P2,TUSC7,LSAMP
molin_12_DD/ASD_discovery_cases-case13
De novo
Multiplex
Not segregated
ZNF80,MIR568,ZBTB20-AS2,ZBTB20-AS1,ZBTB20-AS5,DRD3,ZBTB20,TIGIT
molin_12_DD/ASD_discovery_cases-case14
FISH
Unknown (not maternal)
Unknown
Unknown
RN7SL815P,LSAMP-AS1,RN7SL582P,BZW1P2,MIR4447,GAP43,LINC00903,TUSC7,LSAMP
mosca_16_DCD_discovery_cases-case116003
qPCR
De novo
Simplex
Segregated
RN7SL815P,LSAMP-AS1,GAP43,LSAMP
pinto_10_ASD_discovery_cases-case5245_3
qPCR, Agilent 1M
De novo
Multiplex
Not segregated
LSAMP exonic
poultney_13_ASD_discovery_cases-case98HI0158A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GRAMD1C
poultney_13_ASD_discovery_cases-case98HI0361A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GRAMD1C
prasad_12_ASD_discovery_cases-case52026
qPCR
Maternal
Unknown
Unknown
ZBTB20
rasmussen_14_ASD/DD/ID_discovery_cases-case1
FISH
De novo
ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,GAP43,ZBTB20,LSAMP
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDP96-053_LP
Not tested by qPCR
Unknown
Unknown
Unknown
ZBTB20
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-417a1
Not tested by qPCR
Unknown
Unknown
Unknown
ZBTB20
sanders_11_ASD_discovery_cases-11630.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GRAMD1C
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
GRAMD1C
sanders_11_ASD_discovery_cases-12739.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LSAMP
sanders_11_ASD_discovery_cases-13150.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13162.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GRAMD1C
szatmari_07_ASD_discovery_cases-NAAR072-G5-HI0615
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR4447,LINC00901,RNU5E-8P,PTMAP8,LSAMP
szatmari_07_ASD_discovery_cases-NAARCP2-D11-HI0615
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR4447,LINC00901,RNU5E-8P,PTMAP8,LSAMP
yin_16_ASD_discovery_cases-case120
Unknown
Unknown
Unknown
ZBTB20
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control13162.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
GRAMD1C
krumm_15_ASD_discovery_controls-control13162.s1
Illumina 1MDuo
Maternal
GRAMD1C
levy_11_ASD_discovery_controls-11277.s1
Paternal
Simplex
NA
RN7SL815P,GAP43,LSAMP
levy_11_ASD_discovery_controls-12297.s1
Paternal
Simplex
NA
GRAMD1C
poultney_13_ASD_discovery_controls-control04C28760A
Unknown
GRAMD1C
poultney_13_ASD_discovery_controls-control04C30190A
Unknown
GRAMD1C
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
LSAMP
sanders_11_ASD_discovery_controls-11277.s1
Paternal
Simplex (quad)
NA
RN7SL815P,GAP43,LSAMP
sanders_11_ASD_discovery_controls-12297.s1
Paternal
Simplex (quad)
NA
GRAMD1C
sanders_11_ASD_discovery_controls-13162.s1
Maternal
Simplex (quad)
NA
GRAMD1C
stamouli_18_ASD/NDD_discovery_controls-family25_Twin_1
Unknown
Simplex
GRAMD1C
No Animal Model Data Available