2q36.3CNV Type: Deletion-Duplication
Largest CNV size: 234859 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum 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-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
aerden_23_DD/ID_discovery_cases
Individuals with 2q36.3 deletions affecting the TRIP12 gene from an initial cohort of 38 individuals with TRIP12 variants recruited through ERN-ITHACA.
4
All four cases presented with developmental delay (DD) and intellectual disability (ID), while two cases also presented with autism spectrum disorder/autistic features.
Range, 4 yrs.-13 yrs. 8 mos.
Male
2631321
4
0
4
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
256646
0
1
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
191456
2
6
8
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
102903
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1072544
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
114812
0
1
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
644137
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
12855
0
1
1
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
672000
1
0
1
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
92021
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
92021
1
2
3
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
49000
0
1
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
180810
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
102904
1
1
2
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)
26496
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
106481
2
3
5
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
104291
1
0
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
234859
13
6
19
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
6101
2
0
2
toma_13_ASD_discovery_cases
Affected individuals from 10 multiplex ASD families (nine with two affected probands, one with three affected probands)
21
Affected individuals met DSM-IV criteria for autism, Asperger disorder or pervasive developmental disorder not otherwise specified (PDD-NOS), assessed using ADI-R (Autism-Diagnostic Interview-Revised) and ADOS-G (Autism Diagnostic Observation Schedule-Generic) diagnostic instruments.
Range, 4-29 yrs.
95.24% Male
43820
0
2
2
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
211662
0
1
1
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
49721
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
19272
0
1
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
179477
1
6
7
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
102903
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
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
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
176244
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
178760
0
4
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
188565
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)
2050
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
106481
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.
184242
14
5
19
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
49721
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
aerden_23_DD/ID_discovery_cases
European
CMA, exome sequencing
NA
NA
NA
None
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
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)
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
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
toma_13_ASD_discovery_cases
Spanish, Caucasian
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
qPCR
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
aerden_23_DD/ID_discovery_cases-case35
13 yrs. 8 mos.
M
Developmental delay, intellectual disability, seizures, and autistic features
Birth/neonatal history: premature birth (36+2 weeks gestation) with a birth weight of 2390 g, birth length of 48 cm, and birth OFC of 32 cm; neonatal feeding difficulties (poor suck). Developmental milestones: severe global developmental delay with motor delay (delayed ability to walk with unassisted walking at 48 months) and speech delay (first words at 96 months). Language and communication evaluation: current verbal ability consists of single words. Motor and musculoskeletal evaluation: motor problems persisted into later childhood; hypotonia; bilateral fifth finger clinodactyly. Behavioral/psychiatric evaluation: autism spectrum disorder/autistic features, hyperactivity, attention deficit, sleep disturbance (frequent awakenings). Epilepsy/seizures: febrile seizures with onset at 6 years with subsequent absence seizures; currently seizure free. EEG: increased epileptic excitation in the right occipitotemporal region. Brain imaging: narrow and short splenium. Additional medical history: hearing loss; left inguinal hernia. Dysmorphic features: bilateral ptosis, skull deformation, deep-set eyes, narrow palpebral fissures, maxillar hypoplasia, broad nasal tip, low columella, long and smooth philtrum, wide mouth, thin upper lip vermillion, small, low--set, and posteriorly rotated ears. Growth parameters: weight 68 g (+1.5 SD) at 13 years 7 months. Family history: unremarkable.
Severe intellectual disability
229810880
229836984
26105
GRCh38
Deletion
No
aerden_23_DD/ID_discovery_cases-case36
9 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal period: normal prenatal period; born at term with a birth weight of 3580 g, birth length of 51 cm, and birth OFC 35 cm. Developmental milestones: moderate-severe global developmental delay with motor delay and speech delay. Language and communication evaluation: current verbal ability consists of single words. Motor and musculoskeletal evaluation: motor problems persisted into later childhood. Behavioral/psychiatric evaluation: attention deficit, social interaction disorder. Additional medical history: recurrent infections. Dysmorphic features: skull deformation, epicanthus, fullness of the upper eyelid, maxillar hypoplasia, depressed nasal bridge, broad nasal tip, long philtrum, exaggerated Cupid's bow. Growth parameters: weight 27.5 kg (+1.8 SD), height 125 cm (+2 SD), BMI for age 17.6 kg/m2 (overweight), and OFC 53 cm (+1.1 SD) at 5 years 11 months. Family history: unremarkable.
Moderate-severe intellectual disability
229796589
229802461
5873
GRCh38
Deletion
No
aerden_23_DD/ID_discovery_cases-case37
6 yrs. 3 mos.
M
Developmental delay, intellectual disability, autistic features, and stereotypy
Birth/neonatal history: normal prenatal period; born at term with a birth weight of 3860 g, birth length of 53 cm, and birth OFC of 36 cm. Developmental milestones: severe global developmental delay with motor delay (delayed ability to walk with unassisted walking at 24 months) and speech delay. Language and communication evaluation: absent speech, current verbal ability consists of sound imitiation. Motor and musculoskeletal evaluation: motor problems persisted into later childhood; hypotonia; short and tapering fingers with fetal fingerpads. Behavioral/psychiatric evaluation: autism spectrum disorder/autistic features, dangerous behavior, disinhibition to strangers; stereotypies; hyperphagia. Brain imaging: minimal delayed myelination. Additional medical history: esotropia. Dysmorphic features: plagiocephaly, deep-set eyes, narrow palpebral fissures, epicanthus, depressed nasal bridge, short nose, anteverted nares, low columella, long and smooth philtrum, wide mouth, thin upper lip vermillion, exaggerated Cupid's bow, low-set and posteriorly rotated ears, large ear lobe, uvula bifida. Growth parameters: weight 36 kg (+2.9 SD), height 132 cm (+3.2 SD), and OFC 51.5 (0 SD) at 6 years 1 months; obesity (BMI for age 20.7 kg/m2). Family history: unremarkable.
Severe intellectual disability
229778433
229793144
14712
GRCh38
Deletion
No
aerden_23_DD/ID_discovery_cases-case38
4 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: normal prenatal history; born at term with birth weight of 3180 g, birth length of 49 cm, and birth OFC of 35 cm. Developmental milestones: mild global developmental delay with motor delay (delayed ability to walk with unassisted walking at 19 months) and speech delay (first words at 24 months). Language and communication evaluation: current verbal ability consists of short sentences. Motor and musculoskeletal evaluation: motor problems persisted into later childhood. Behavioral/psychiatric evaluation: no reported behavioral problems. Brain imaging: normal. Dysmorphic features: hypotelorism, deep-set eyes, narrow palpebral ffisures, depressed nasal bridge, short nose, anteverted nares, long philtrum, exaggerated Cupid's bow, low-set ears, supernumerary nipple. Growth parameters: weight 15.5 kg (-1.2 SD), height 101.5 cm (-1.3 SD), BMI 15 kg/m2 (-0.4 SD), and OFC 49.5 cm (-0.9 SD) at 4 years 9 months. Family history: unremarkable.
Mild intellectual disability
227147564
229778884
2631321
GRCh38
Deletion
No
al_shehhi_18_ASD/DD/ID_discovery_cases-case33
3 yrs.
F
Congenital heart defect
Tetralogy of Fallot
No learning disability
229778825
230035470
256646
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14414_5230
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
229913669
229974293
60625
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case16064_1571160001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
229849309
230031962
182654
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3511_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
226503665
226576683
73019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4274_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
229505398
229608301
102904
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4455_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
229708054
229899510
191457
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5449_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
225691919
225833056
141138
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5562_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
229761812
229847458
85647
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6249_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
230123432
230180534
57103
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case17171
NA
NA
ASD/autism
NA
NA
229505398
229608301
102904
GRCh38
Duplication
Yes
guo_17_ASD_discovery_cases-caseM10045
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
225652521
226725064
1072544
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseF3
3 yrs.
F
ASD
229717132
229831943
114812
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002315
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
229308268
229952405
644138
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1831
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
228245434
228258288
12855
Unknown
Duplication
No
kim_18_DD/ID_discovery_cases-case14
18 yrs.
F
Intellectual disabilty
Dysmorphic features, macrocephaly, diabetes mellitus, obesity, abnormal behavior. Sister of patient 15 in this report.
Severe intellectual disability
229110356
229782445
672090
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case12997.p1
N/A
M
ASD
ASD proband from SSC quad family 12997. SRS score of 81.
Full-scale IQ (FSIQ) score of 97.
229767553
229859574
92022
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
227330625
227364012
33388
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11184.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
227611393
227613034
1642
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12997.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
229767553
229859574
92022
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam681Proband7843
N/A
M
ASD
Additional clinical profile info N/A
No ID
227675809
227725186
49378
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case621
3 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: macrocephaly
229854662
230035470
180809
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case14414_5230
N/A
M
ASD
Autism (ADI-R and ADOS positive), no language delay (first words 12 mo, first phrases 24 mo), verbal. Family history: N/A.
Griffiths at 5 y 9 mo: language DQ 87, performance DQ 78, global DQ 79
229913669
229974293
60625
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4274_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
229505398
229608301
102904
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2954A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1243301; NDAR ID N/A)
227330624
227357119
26496
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case120760
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
230330807
230437287
106481
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case143189
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
230027762
230036470
8709
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146325
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
228287925
228315614
27690
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case87471
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
228287925
228315614
27690
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case93919L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
230027762
230036470
8709
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_210
17 yrs.
M
Intellectual disability
Attention deficit, social problems, behavioral problems
Mild intellectual disability
229877702
229981992
104291
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11184.p1
9.5
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
227600864
227616703
15840
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
226461745
226481318
19574
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11563.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
226478797
226481318
2522
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
229937162
229955884
18723
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11765.p1
11.2
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
229937162
229953756
16595
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
228927101
228955361
28261
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
230010595
230013133
2539
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
226478797
226481318
2522
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
227378594
227383926
5333
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12337.p1
11.6
M
ASD
NA
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
227378594
227383926
5333
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
226478797
226481318
2522
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
228833634
228850543
16910
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
227378594
227383926
5333
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
229679859
229914718
234860
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
226470233
226481318
11086
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
229766158
229847458
81301
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
227378594
227393572
14979
GRCh38
Duplication
No
schmitz-abe_20_ASD_discovery_cases-caseAU-18101
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
226476794
226482894
6101
GRCh38
Deletion
Yes
toma_13_ASD_discovery_cases-caseSJD_34.3
13 yrs.
M
Asperger syndrome
Diagnostic: meets research criteria for Asperger Syndrome (ADI-R +; ADOS +; clinical diagnosis (DSM IV-TR+)); no language delay. Adaptive behavior: Daily Living Skills: alteration (1st percentile); Communication: no alteration (70th percentile); Social-Emotional: alteration (<1st percentile). Aberrant behavior: nothing of note. Medical history: bronchial asthma. Family and developmental history: first of two affected siblings; no significant psychiatric history on paternal side; fourth-degree relative with ASD on maternal side. Pregnancy and birth: pregnancy complications; forceps delivery. Paternal/maternal age at time of conception: 25 yrs./29 yrs.
Full Scale IQ: 108; Non-Verbal IQ: 107; Verbal IQ: 108
227284853
227328673
43821
GRCh38
Duplication
Yes
toma_13_ASD_discovery_cases-caseSJD_34.4
9 yrs.
M
Asperger syndrome
Diagnostic: meets research criteria for Asperger Syndrome (ADI-R +; clinical diagnosis (DSM IV-TR+)); no language delay. Adaptive behavior: Daily Living Skills: alteration (1st percentile); Communication: no alteration (70th percentile); Social-Emotional: alteration (<1st percentile). Aberrant behavior: elevated for hyperactivity, Impulsiveness, anxiety and bruxism. Medical history: salmonellosis in preschool age; aluminum allergy. Family and developmental history: second of two affected siblings; no significant psychiatric history on paternal side; fourth-degree relative with ASD on maternal side. Pregnancy and birth: vaginal delivery at 40 weeks; resting since 6th month of pregnancy. Paternal/maternal age at time of conception: 29 yrs./33 yrs.
Full Scale IQ: 145; Non-Verbal IQ: 139; Verbal IQ: 143
227284853
227328673
43821
GRCh38
Duplication
Yes
yingjun_17_ASD_discovery_cases-case1033
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
229794295
230005957
211663
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case90
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
227695948
227745668
49721
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
bacchelli_20_ASD_discovery_controls-control10034
N/A
F
Control
Control
229640317
229659588
19272
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036024685_
N/A
N/A
Control
No previous psychiatric history
229751829
229864705
112877
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
N/A
N/A
Control
No previous psychiatric history
229629466
229791017
161552
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB254070_1007852661
N/A
N/A
Control
No previous psychiatric history
227672682
227725311
52630
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
N/A
N/A
Control
No previous psychiatric history
226144911
226239043
94133
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
N/A
N/A
Control
No previous psychiatric history
229847458
230026935
179478
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900220_900220
N/A
N/A
Control
No previous psychiatric history
226503665
226576683
73019
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
N/A
N/A
Control
No previous psychiatric history
229859773
230002174
142402
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1391
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
228245434
228258288
12855
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1687
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
230351558
230527801
176244
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11251.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
227330625
227379268
48644
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11309.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
229858771
230037531
178761
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13777.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
229767553
229859574
92022
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13781.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
229767553
229880079
112527
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11309.s1
NA
F
Control
NA
NA
229849287
230037851
188565
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11533.s1
NA
M
Control
NA
NA
227712821
227742594
29774
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36751A
N/A
F
Control
NIMH Control (NIMH ID 26861)
227303036
227305085
2050
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11009.s1
7.6
M
Control (matched sibling)
NA
NA
229940295
229950003
9709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11056.s1
10.6
F
Control (matched sibling)
NA
NA
229937162
229950003
12842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11092.s1
10.5
F
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
227600864
227616600
15737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
229852689
230036931
184243
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
226617267
226635923
18657
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11557.s1
6.8
M
Control (matched sibling)
NA
NA
229949577
229959373
9797
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
227378594
227383926
5333
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
227378594
227393572
14979
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
227378594
227393572
14979
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12703.s1
15.3
F
Control (matched sibling)
NA
NA
226470233
226481318
11086
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12704.s1
6.4
F
Control (matched sibling)
NA
NA
226478797
226481318
2522
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12810.s1
13.7
F
Control (matched sibling)
NA
NA
229937162
229953756
16595
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
227378594
227393572
14979
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
aerden_23_DD/ID_discovery_cases-case35
De novo
Simplex
Segregated
TRIP12
aerden_23_DD/ID_discovery_cases-case36
Unknown (not maternal)
Simplex
Unknown
TRIP12
aerden_23_DD/ID_discovery_cases-case37
De novo
Simplex
Segregated
TRIP12
aerden_23_DD/ID_discovery_cases-case38
De novo
Simplex
Segregated
COL4A3,COL4A4,PID1,MFF,C2orf83,TM4SF20,SPHKAP,SLC19A3,DNER,DAW1,AGFG1,SNF8P1,MFF-DT,RNU7-9P,RPL17P14,RNA5SP121,MIR5703,SNRPGP8,LINC01807,RN7SKP283,CCL20,RNU6-624P,RPL7L1P10,SCYGR4,SCYGR3,SCYGR7,SCYGR2,SCYGR8,SCYGR5,SCYGR1,SCYGR10,SCYGR6,SCYGR9,TRIP12,TDGF1P2
al_shehhi_18_ASD/DD/ID_discovery_cases-case33
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,SLC16A14,TRIP12
engchuan_15_ASD_discovery_cases-case14414_5230
De novo
RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
engchuan_15_ASD_discovery_cases-case16064_1571160001
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
engchuan_15_ASD_discovery_cases-case3511_3
Unknown
engchuan_15_ASD_discovery_cases-case4274_1
Unknown
RNU7-9P,DNER
engchuan_15_ASD_discovery_cases-case4455_1
Unknown
RNU6-613P,TRIP12,DNER
engchuan_15_ASD_discovery_cases-case5449_3
Unknown
engchuan_15_ASD_discovery_cases-case5562_3
Unknown
TRIP12
engchuan_15_ASD_discovery_cases-case6249_4
Unknown
SP110
griswold_12_ASD_discovery_cases-case17171
qPCR
Paternal
Simplex
Segregated
RNU7-9P,DNER
guo_17_ASD_discovery_cases-caseM10045
qPCR
Paternal
MIR5702,NYAP2
han_22_ASD/DD/ID_discovery_cases-caseF3
Maternal
TRIP12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002315
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU7-9P,RNU6-613P,RNU6-964P,FBXO36-IT1,FBXO36,TRIP12,DNER
kanduri_15_ASD_discovery_cases-case1831
De novo
Unknown
Unknown
Intergenic CNV: nearest genes, TM4SF20(dist=1412),MIR5703(dist=78560)
kim_18_DD/ID_discovery_cases-case14
De novo
Multiplex
Not segregated (CNV present in only 1/2 affected siblings)
RN7SKP283,RNU7-9P,PID1,TRIP12,DNER
krumm_13_ASD_discovery_cases-case12997.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
TRIP12
krumm_15_ASD_discovery_cases-case11033.p1
Illumina 1M
De novo
Simplex
Segregated
MFF,TM4SF20
krumm_15_ASD_discovery_cases-case11184.p1
Illumina 1M
Maternal
Simplex
Segregated
C2orf83
krumm_15_ASD_discovery_cases-case12997.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
TRIP12
nava_13_ASD_discovery_cases-Fam681Proband7843
Unknown
Simplex
Unknown
SCYGR6,SLC19A3
oikonomakis_16_ASD_discovery_cases-case621
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,SLC16A14,TRIP12
pinto_14_ASD_discovery_cases2-case14414_5230
qPCR
De novo
Simplex
Likely segregated (not tested)
RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
pinto_14_ASD_discovery_cases2-case4274_1
qPCR (Griswold et al. 2011, PMID: 21360829)
Paternal
Simplex
(not tested)
RNU7-9P,DNER
poultney_13_ASD_discovery_cases-case04HI2954A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MFF
prasad_12_ASD_discovery_cases-case120760
Unknown
Unknown
Unknown
TRIP12
prasad_12_ASD_discovery_cases-case143189
Unknown
Unknown
Unknown
DNER
prasad_12_ASD_discovery_cases-case146325
Unknown
Unknown
Unknown
SLC19A3
prasad_12_ASD_discovery_cases-case87471
Unknown
Unknown
Unknown
SLC19A3
prasad_12_ASD_discovery_cases-case93919L
Unknown
Unknown
Unknown
DNER
quintela_17_DD/ID_discovery_cases-caseID_210
Unknown
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
sanders_11_ASD_discovery_cases-11184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SCYGR10,SCYGR3,C2orf83
sanders_11_ASD_discovery_cases-11390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11465.p1
Paternal
Simplex (trio)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_cases-11522.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_cases-11563.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_cases-11765.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_cases-11846.p1
Paternal
Simplex (trio)
NA
PID1
sanders_11_ASD_discovery_cases-11857.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FBXO36
sanders_11_ASD_discovery_cases-12081.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12335.p1
Both parents
Simplex (quad-proband matched)
Segregated
TM4SF20
sanders_11_ASD_discovery_cases-12337.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TM4SF20
sanders_11_ASD_discovery_cases-12351.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PID1
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
TM4SF20
sanders_11_ASD_discovery_cases-12670.p1
Paternal
Simplex (trio)
NA
RNU6-613P,TRIP12,DNER
sanders_11_ASD_discovery_cases-12962.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12997.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TRIP12
sanders_11_ASD_discovery_cases-13322.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SCYGR1,TM4SF20
schmitz-abe_20_ASD_discovery_cases-caseAU-18101
qPCR
Both parents
Simplex
Segregated
toma_13_ASD_discovery_cases-caseSJD_34.3
qPCR
Inherited
Multiplex
Segregated
MFF,COL4A3
toma_13_ASD_discovery_cases-caseSJD_34.4
qPCR
Inherited
Multiplex
Segregated
MFF,COL4A3
yingjun_17_ASD_discovery_cases-case1033
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
yin_16_ASD_discovery_cases-case90
Unknown
Unknown
Unknown
SCYGR6,SCYGR7,SLC19A3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10034
Unknown
DNER
engchuan_15_ASD_discovery_controls-control110036024685_
Unknown
TRIP12
engchuan_15_ASD_discovery_controls-controlB178717_1007875826
Unknown
TRIP12,DNER
engchuan_15_ASD_discovery_controls-controlB254070_1007852661
Unknown
SCYGR6,SLC19A3
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
Unknown
engchuan_15_ASD_discovery_controls-controlB490963_1007853895
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
engchuan_15_ASD_discovery_controls-controlHABC_900220_900220
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
Unknown
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,TRIP12
kanduri_15_ASD_discovery_controls-control_split1391
Unknown
Intergenic CNV: nearest genes, TM4SF20(dist=1412),MIR5703(dist=78560)
kanduri_15_ASD_discovery_controls-control_split1687
Unknown
DNER
krumm_15_ASD_discovery_controls-control11251.s1
Illumina 1M
Maternal
MFF,TM4SF20
krumm_15_ASD_discovery_controls-control11309.s1
Illumina 1M
Paternal
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,SLC16A14,TRIP12
krumm_15_ASD_discovery_controls-control13777.s1
Omni2.5-4v1
Maternal
TRIP12
krumm_15_ASD_discovery_controls-control13781.s1
Omni2.5-4v1
Maternal
TRIP12
levy_11_ASD_discovery_controls-11309.s1
Paternal
Simplex
NA
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,SLC16A14,TRIP12
levy_11_ASD_discovery_controls-11533.s1
Maternal
Simplex
NA
SCYGR6,SCYGR7,SLC19A3
poultney_13_ASD_discovery_controls-control04C36751A
Unknown
COL4A3
sanders_11_ASD_discovery_controls-11009.s1
Paternal
Simplex (quad)
NA
FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11049.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11056.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11092.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11184.s1
Maternal
Simplex (quad)
NA
SCYGR10,SCYGR3,C2orf83
sanders_11_ASD_discovery_controls-11309.s1
Paternal
Simplex (quad)
NA
RNU6-613P,RNU6-964P,FBXO36-IT1,RNU6-1027P,FBXO36,SLC16A14,TRIP12
sanders_11_ASD_discovery_controls-11450.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11522.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11557.s1
Maternal
Simplex (quad)
NA
FBXO36
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11765.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-11793.s1
Paternal
Simplex (quad)
NA
TM4SF20
sanders_11_ASD_discovery_controls-12351.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-12524.s1
Paternal
Simplex (quad)
NA
SCYGR1,TM4SF20
sanders_11_ASD_discovery_controls-12534.s1
Maternal
Simplex (quad)
NA
SCYGR1,TM4SF20
sanders_11_ASD_discovery_controls-12703.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12704.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12810.s1
Maternal
Simplex (quad)
NA
RNU6-964P,FBXO36-IT1,FBXO36
sanders_11_ASD_discovery_controls-13322.s1
Paternal
Simplex (quad)
NA
SCYGR1,TM4SF20
No Animal Model Data Available