18q12.3CNV Type: Deletion-Duplication
Largest CNV size: 440895 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
372kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
SETBP1 haploinsufficiency and related disorders clinical and neurobehavioral phenotype study
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
535210
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
129441
3
0
3
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
338534
0
1
1
jansen_21_DD_discovery_cases
Individual with a de novo 18q12.3 deletion affecting the SETBP1 gene from an initial cohort of 24 novel cases of SETBP1 haploinsufficiency
1
Case presented with developmental delay
1.28 yrs.
Male
48392
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
1697006
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
23781
1
1
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
91730
0
1
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
12720
1
0
1
marseglia_12_MR_discovery_cases
Third child of healthy unrelated parents with two healthy siblings, presenting with mental retardation and expressive speech impairment.
1
Mental retardation, expressive speech impairment and autistic features
16 yrs.
Male
372000
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
440895
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
57000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
288000
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
87629
0
1
1
oyler_24_DD_discovery_cases
Two individuals with 18q12.3 microdeletions from an initial cohort of 34 patients with variants affecting the SETBP1 gene from the Simons Searchlight international research program.
2
Both cases presented with developmental delay, while one of the two also presented with autistic behavior.
Range, 2.3-4.3 yrs.
50% Male
2721001
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
59055
0
1
1
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
60479
25
0
25
stamouli_18_ASD/NDD_discovery_cases
Affected 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
Diagnoses based on DSM-5 criteria 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 an
N/A
N/A
80139
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
499512
2
5
7
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
60026
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
4780
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
0
0
0
0
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
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)
59055
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.
28231
15
1
16
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
206881
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
jansen_21_DD_discovery_cases
Unknown
aCGH
Not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
marseglia_12_MR_discovery_cases
Caucasian
aCGH
Agilent 44K
Shifting Level Model (SLM)
Agilent Feature Extraction
qPCR
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
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
oyler_24_DD_discovery_cases
CMA
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
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
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
chaves_24_ASD/DD/ID_discovery_cases-case667
M
ASD
ASD.
44873246
45408455
535210
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14279_4020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40736676
40783689
47014
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14318_2740
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41026704
41095856
69153
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4509_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41857222
41986664
129443
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1318301
Autism
38403744
38742277
338534
Unknown
Duplication
No
jansen_21_DD_discovery_cases-case21
1.28 yrs.
M
Developmental delay
Developmental milestones: motor delay (stting at 8-10 months, crawling at 11-13 months), delayed ability to walk (not yet achieved), speech delay (first words not yet achieved). Additional medical history: ear infections (twice a year), frequent skin rashes. Dysmorphic features: ankyloglossia, prominent forehead (a phenotype shared by his father), hypertelorism, ptosis, small mouth, thin lips. Growth parameters: decreased body weight (2nd %ile).
44939484
44987875
48392
GRCh38
Deletion
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004308
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39870652
41567658
1697007
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004526
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
40076655
41085594
1008940
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12602.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44771824
44776604
4781
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12667.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
42043732
42067513
23782
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12667.p1
NA
M
ASD
NA
NA
42041324
42133053
91730
GRCh38
Duplication
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
44183900
44196619
12720
GRCh38
Deletion
No
marseglia_12_MR_discovery_cases-case1
16 yrs.
M
Mental retardation + autistic features
Birth/neonatal history: born after uneventful term pregnancy and normal delivery; birth weight of 3650 g (0 SD), length of 49 cm (0 SD), head circumference of 35 cm (0 SD); no notion of muscular hypotonia; valid sucking reflex; growth parameters reached 97th %iles during 1st year of life. Developmental milestones: slight delay in psychomotor developmental milestones (sitting at 9 months, walking at 18 months); very poor babbling during 1st year; fine motor skills impairment (manual dyspraxia and global coordination difficulties) during preschool age. Language and communication evaluation: severe language impairment with verbal dyspraxia (at 5 years); expressive speech impairment; speech almost absent at 16 years; effective communication using sign, gestures and mimic expression of face and body. Behavioral/psychiatric evaluation: autistic features (no interest in peers play shared activites, repetitive and atypical interests in objects); hyperactivity; attention deficit; aggression. Seizures: none. EEG: poor organization of background rhythm and diffuse slowing (no epileptiform potentials). Hearing: hearing and ABR (at 6 years) within normal limits (only asymmetric, with slowing of the signal on the left). Brain imaging: normal MRI at 6 yrs. of age, except for a minimal alteration in signal of peritrigonal white matter; no creatinine deficit detected by spectroscopy during MRI. Dysmorphic features: long oval face, high forehead, synophris, small palpebral fissures with ptosis, periorbital fullness, bilateral epicanthal folds, small nostrils, high nasal bridge, broad nasal tip, thin upper lip, fleshy lower lip, high-arched palate, small long chin, 5th finger clinodactyly, broad great toes, mild pectus excavatum. Growth parameters: height, 182 cm (97th %ile); weight, 60 kg (>50th %ile); OFC, 58 cm (97th %ile). Karyotype: de novo apparently balanced translocation 46, XY, t(2;18)(q24;q21). Family history: third child of healthy unrelated parents with two healthy siblings; maternal grandmother with epilepsy; maternal cousin with mental retardation.
Mild mental retardation. Leiter-R VR and AR battery testing at 10 yrs.: IQ brief score of 58, Fluid Reasoning score of 52.
44952037
45324037
372001
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0147-003
NA
F
ASD
RL/EL severe delay, moderate repetitive behavior, severe dysmorphism
IQ/LOF Unkown
41675594
42116488
440895
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case31
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
44838752
44895767
57016
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1244Proband10882
N/A
M
ASD
Additional clinical profile info N/A
ID
42834979
43122818
287840
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case12667.p1
NA
M
ASD/Autism
Case also identified with de novo DNAJB9 missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 49
42040676
42128305
87630
GRCh38
Duplication
Yes
oyler_24_DD_discovery_cases-case21
2.3 yrs.
F
Developmental delay
Developmental milestones: speech delay or language disorder, developmental delay. Motor and musculoskeletal evaluation: hypotonia, hypomobile joints. Behavioral/psychiatric evaluation: ADHD and/or medications for attention issues (<4). Additional medical history: hospitalization due to cold, history of surgeries (tongue tie, adenoidectomy). Dysmorphic features: ptosis.
43266844
45303994
2037151
GRCh38
Deletion
No
oyler_24_DD_discovery_cases-case22
4.3 yrs.
M
Developmental delay and autistic behavior
Birth/neonatal history: complications during pregnancy (eclampsia), premature birth (36 weeks gestation). Developmental milestones: delayed ability to walk (24 months), speech delay or language disorder (not yet talking), toilet and bowel training not yet achieved, developmental delay. Motor and musculoskeletal evaluation: hypotonia, clumsiness. Behavioral/psychiatric evaluation: autistic traits, sleep issues, high pain threshold, Additional medical history: eczema. Growth parameters: microcephaly.
42454957
45175957
2721001
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case47005
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
38482739
38541793
59055
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
40680562
40694686
14125
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11215.p1
9.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 114; verbal IQ, 80
44183051
44196031
12981
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11318.p1
8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 113; verbal IQ, 116
44185713
44201128
15416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
40240267
40262811
22545
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11676.p1
7.1
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
45542509
45550813
8305
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
43305024
43322011
16988
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
40999812
41060291
60480
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
42695593
42723824
28232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
45542509
45555306
12798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
42445609
42462042
16434
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
42695593
42723824
28232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
45542509
45550813
8305
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
42672133
42723824
51692
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11979.p1
7.5
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 104; verbal IQ, 114
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12206.p1
17.1
M
Aspergers
NA
Full-scale IQ, 130; non-verbal IQ, 141; verbal IQ, 113
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
42701019
42711807
10789
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
42692002
42711807
19806
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12521.p1
7.2
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 78; verbal IQ, 83
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13018.p1
12.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13057.p1
4.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 118; verbal IQ, 87
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13080.p1
8.3
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 104; verbal IQ, 121
45742059
45745630
3572
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family14_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
41365218
41445356
80139
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
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
N/A
N/A
Control
No previous psychiatric history
42041983
42135830
93848
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB685540_1007852919
N/A
N/A
Control
No previous psychiatric history
41185659
41226896
41238
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB706383_1007844446
N/A
N/A
Control
No previous psychiatric history
42041983
42128305
86323
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
42034146
42128305
94160
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
N/A
N/A
Control
No previous psychiatric history
42041983
42128305
86323
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
N/A
N/A
Control
No previous psychiatric history
42041983
42128305
86323
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
N/A
N/A
Control
No previous psychiatric history
42450370
42949882
499513
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1424
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
39731208
39791233
60026
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12602.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44771824
44776604
4781
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
44309244
44335285
26042
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11446.s1
11
F
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
45819246
45843381
24136
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11679.s1
4
M
Control (matched sibling)
NA
NA
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11775.s1
12.7
F
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
42445609
42462042
16434
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
42695593
42723824
28232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
44185713
44196031
10319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12377.s1
20.6
F
Control (matched sibling)
NA
NA
40459861
40485596
25736
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
42695593
42723824
28232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12521.s1
9.2
M
Control (matched sibling)
NA
NA
45542509
45550813
8305
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
44185713
44194895
9183
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family35_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
39701450
39908330
206881
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_24_ASD/DD/ID_discovery_cases-case667
Unknown
MIR4319,SLC14A2,SETBP1
engchuan_15_ASD_discovery_cases-case14279_4020
Unknown
engchuan_15_ASD_discovery_cases-case14318_2740
Unknown
engchuan_15_ASD_discovery_cases-case4509_1
Unknown
PIK3C3
gai_11_ASD_discovery_cases-AU1318301
Inherited
RIT2
jansen_21_DD_discovery_cases-case21
De novo
MIR4319,SETBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004308
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL17P45,LINC01477,KC6,LINC01901,LINC01902
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004526
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL17P45,LINC01477
krumm_15_ASD_discovery_cases-case12602.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SETBP1
krumm_15_ASD_discovery_cases-case12667.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PIK3C3
levy_11_ASD_discovery_cases-12667.p1
Maternal
Simplex
Segregated
PIK3C3
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
marseglia_12_MR_discovery_cases-case1
qPCR
De novo
Simplex
Segregated
MIR4319,SETBP1,SLC14A2
marshall_08_ASD_discovery_cases-SK0147-003
qPCR, qmPCR
Unknown
NA
NA
PIK3C3
napoli_17_ASD_discovery_cases-case31
RT-PCR
Unknown
SETBP1
nava_13_ASD_discovery_cases-Fam1244Proband10882
Paternal
Simplex
Unknown
RIT2
o'roak_12_ASD_discovery_cases-case12667.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
PIK3C3
oyler_24_DD_discovery_cases-case21
Unknown
KRT8P5,MIR4319,RNA5SP455,SETBP1-DT,LINC01478,SYT4,MLECP1,SLC14A2,SETBP1
oyler_24_DD_discovery_cases-case22
Unknown
LINC00907,KRT8P5,MIR4319,RNA5SP455,SETBP1-DT,LINC01478,RIT2,SYT4,MLECP1,SETBP1
prasad_12_ASD_discovery_cases-case47005
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11046.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11215.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11318.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11598.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11698.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11704.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11806.p1
Maternal
Simplex (trio)
NA
SLC14A2
sanders_11_ASD_discovery_cases-11846.p1
Unknown
Simplex (trio)
NA
SLC14A2
sanders_11_ASD_discovery_cases-11894.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC00907
sanders_11_ASD_discovery_cases-11913.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11920.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-11964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00907
sanders_11_ASD_discovery_cases-11979.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-12206.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-12250.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12457.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-12521.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-13018.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-13057.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC14A2
sanders_11_ASD_discovery_cases-13080.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC14A1
stamouli_18_ASD/NDD_discovery_cases-family14_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB386236_1007853834
Unknown
PIK3C3
engchuan_15_ASD_discovery_controls-controlB685540_1007852919
Unknown
engchuan_15_ASD_discovery_controls-controlB706383_1007844446
Unknown
PIK3C3
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
PIK3C3
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
Unknown
PIK3C3
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
Unknown
PIK3C3
engchuan_15_ASD_discovery_controls-controlHABC_900841_900841
Unknown
LINC00907,RIT2
kanduri_15_ASD_discovery_controls-control_split1424
Unknown
LINC00907 (non-coding RNA, exonic)
krumm_15_ASD_discovery_controls-control12602.s1
Illumina 1MDuo
Maternal
SETBP1
sanders_11_ASD_discovery_controls-11205.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11328.s1
Maternal
Simplex (quad)
NA
KRT8P5,LINC01478
sanders_11_ASD_discovery_controls-11446.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
SIGLEC15
sanders_11_ASD_discovery_controls-11679.s1
Maternal
Simplex (quad)
NA
SLC14A2
sanders_11_ASD_discovery_controls-11696.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11775.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11894.s1
Maternal
Simplex (quad)
NA
LINC00907
sanders_11_ASD_discovery_controls-11917.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12377.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12497.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12521.s1
Unknown
Simplex (quad)
NA
SLC14A2
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family35_Twin_1
Unknown
N/A (both twins typically developing)
LINC01901,LINC01902
No Animal Model Data Available