14q32.2CNV Type: Deletion-Duplication
Largest CNV size: 772400 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
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...
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Deletion
De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
360
1
0
1
cherik_22_DD/ID_discovery_cases
Individual with a de novo 14q32.2 deletion affecting the YY1 gene (from an initial cohort of 19 individuals heterozygous for a pathogenic or likely pathogenic variant or a deletion of YY1 through clinical networks (Groupe DI France, AnDDI- RARES; ERN ITHACA; GeneMatcher)
1
Case presented with developmental delay and intellectual disability
31 yrs. 9 mos.
Male
948765
1
0
1
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
2400000
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
414395
0
3
3
fan_18_DD/ID_discovery_cases
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
3
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Range, 4-9 yrs.
33.33% Male
2440315
3
0
3
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
4200000
7
0
7
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
19186
0
4
4
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
176086
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
3261633
2
1
3
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
133258
0
3
3
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
3299
3
1
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
4084
3
2
5
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
38400
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
772400
0
1
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
1352105
1
0
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
181015
0
1
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)
18645
1
2
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
776169
2
1
3
sabbagh_23_ASD/DD/ID_discovery_cases
Four cases with de novo microdeletions affecting the BCL11B gene (from an initial cohort of 20 previously unreported individuals with BCL11B variants assembled via an international collaboration)
4
Cases presented with autism spectrum disorder (ASD), developmental delay (DD), and/or intellectual disability (ID)
Range, 2.3-44 yrs.
50% Male
947072
3
0
3
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
161151
22
3
25
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
4636
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
88820
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
360
2
0
2
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
51238
1
0
1
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
0
1
1
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
287556
0
1
1
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
3299
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
3299
2
1
3
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)
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)
776169
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.
21547
6
2
8
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
88820
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
cherik_22_DD/ID_discovery_cases
NA
NA
NA
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
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_18_DD/ID_discovery_cases
Chinese
Array SNP, solid phase hybridization
Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
None
gabriele_17_DD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 44K, Agilent 60K, Agilent 400K, Affymetrix 250K NspI
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
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)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
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
sabbagh_23_ASD/DD/ID_discovery_cases
aCGH
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
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
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
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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_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)
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
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
brandler_18_ASD_discovery_cases-caseREACH000364
N/A
M
ASD
Case from REACH cohort
96501514
96501874
361
GRCh38
Deletion
Yes
cherik_22_DD/ID_discovery_cases-caseYY1-3
31 yrs. 9 mos.
M
Developmental delay and intellectual disability
Small for gestational age (birth weight 0.3rd %ile), short stature (height -3.9 SD), delayed ability to sit (15 months), delayed ability to walk (54 months), language delay (simple sentences), hypotonia, severe dystonia, spasticity, oculomotor disorders, cryptorchidism, feeding disorders in infancy.
Intellectual disability
99936026
100884790
948765
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
N/A
F
Cognitive impairment and DD/ID
Facial dysmorphic features, microcephaly, thin hair, hypertelorism, epicanthus, craniosynostosis with proptosis due to orbital hypoplasia, depressed nasal bridge, smooth philtrum, thin lips, micrognathia, hypotonia, ligamentous laxity, severe dyspraxia, moderate developmental delay
Cognitive impairment, moderate intellectual disability
97170412
99586685
2416274
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case16030_1571003001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100114731
100194740
80010
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3562_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99706025
100120420
414396
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8514_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100426412
100587692
161281
GRCh38
Duplication
No
fan_18_DD/ID_discovery_cases-subject1
4 yrs.
M
Developmental delay/intellectual disability and autistic features
Developmental milestones: moderately delayed gross motor skill development, severely delayed fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: absent speech (language ability equivalent to 6 months). Behavioral/psychiatric evaluation: autistic behaviors. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height normal, weight 90th-97th %ile, head circumference +1 SD ~ +2 SD.
Severe intellectual disability
99203667
99520809
317143
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject2
9 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: extremely severe delays in gross motor skill development, fine motor skill development, language development, social communication development, and adaptivity. Language and communication evaluation: unable to make sentences, language ability equivalent to 18 months. Behavioral/psychiatric evaluation: no autistic behaviors reported. Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, high anterior hairline, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: overgrowth (height and weight both > 97th %ile), macrocephaly (head circumference +2 SD ~ +3 SD).
Extremely severe intellectual disability
98802620
99562451
759832
GRCh38
Deletion
No
fan_18_DD/ID_discovery_cases-subject3
6 yrs.
F
Developmental delay/intellectual disability and autistic features
Developmental milestones: severe delays in gross and fine motor skill development, extremely severe delays in language development and social communication development, severe delays in adaptivity. Language and communication evaluation: language ability equivalent to 13 months. Behavioral/psychiatric evaluation: autistic behaviors, stereotypic behavior (hand flapping). Dysmorphic features: hypertelorism, thin eyebrows, dysmorphic ears, palpebral fissures, broad nasal bridge and tip, thick nasal alae, long philtrum, thin upper lip vermillion, narrow jaw. Growth parameters: height and weight both normal, head circumference -1 SD ~ -2 SD.
Severe intellectual disability
97591926
100032241
2440316
GRCh38
Deletion
No
gabriele_17_DD/ID_discovery_cases-case254518
N/A
N/A
Intellectual disability
Small for gestational age, short stature, hypotonia, spasticity, micropenis, craniosynostosis, feeding problems, strabismus, nystagmus, dysmorphic features, recurrent infections
Intellectual disability
98068350
100597846
2529497
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-case256842
N/A
N/A
Intellectual disability
Small for gestational age, short stature, hypotonia, hyperactivity, feeding problems, hypermetropia, dysmorphic features
Mild intellectual disability
100041885
100305468
263584
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-case266323
N/A
N/A
Intellectual disability
Intrauterine growth retardation, microcephaly, hypotonia, feeding problems, malrotation, micropenis, hypoplastic scrotum, craniosynostosis, dysmorphic features
Intellectual disability
96256910
100471736
4214827
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-case271459
N/A
N/A
Intellectual disability
Small for gestational age, strabismus, enlarged lateral ventricle, white matter changes, feeding problems, long halluces, dysmorphic features
Moderate intellectual disability
100268855
100660452
391598
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-case272547
N/A
N/A
Developmental delay
Very active behavior, poor concentration, strabismus, feeding problems, long and slim hands and feet, deviated toes, constipation, dysmorphic features
Mild developmental delay
100250464
100325019
74556
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-caseSA1
N/A
N/A
Intellectual disability
Atrial septal defect, craniosynostosis, cleft palate, ureteral duplication, vesicoureteric reflux, feeding problems, GERD, hypermetropia, dysmorphic features
Moderate intellectual disability
98733663
100433663
1700001
GRCh38
Deletion
gabriele_17_DD/ID_discovery_cases-caseSA2
N/A
N/A
Intellectual disability
Hypotonia, hypoplasia of the corpus callosum, craniosynostosis, dysmorphic features
Moderate intellectual disability
99233663
100733663
1500001
GRCh38
Deletion
girirajan_13a_ASD_discovery_cases-AU012204
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99928679
99947865
19187
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU022203
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99928679
99947865
19187
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU071803
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99928679
99947865
19187
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1053302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
99928679
99947865
19187
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case23
4 yrs.
M
Developmental delay/intellectual disability
Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
Developmental delay/intellectual disability
100675833
100851919
176087
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001890
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96920270
100178956
3258687
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003764
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97210132
100471765
3261634
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005405
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
100031805
100808500
776696
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1490
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.
96626596
96759853
133258
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case1491
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.
96626596
96759853
133258
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case2991
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.
101228352
101281371
53020
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11118.p1
N/A
F
ASD
ASD proband from SSC quad family 11118. SRS score of 80.
Full-scale IQ (FSIQ) score of 93.
98716191
98717274
1084
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11356.p1
N/A
F
ASD
ASD proband from SSC quad family 11356. SRS score of 90.
Full-scale IQ (FSIQ) score of 72.
98716191
98717274
1084
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case11894.p1
N/A
M
ASD
ASD proband from SSC quad family 11894. SRS score of 70.
Full-scale IQ (FSIQ) score of 114.
99936028
99939327
3300
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13116.p1
N/A
F
ASD
ASD proband from SSC quad family 13116. SRS score of 90.
Full-scale IQ (FSIQ) score of 35.
98716191
98717274
1084
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11118.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
98716191
98717274
1084
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11122.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
99936028
99940112
4085
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11356.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
98716191
98717274
1084
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12420.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
98716191
98717274
1084
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14081.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99936028
99940112
4085
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_cases-casePN400116
N/A
M
ASD and Tourette syndrome
Diagnosis of autism (ADOS=15) and Tourette syndrome. Additional medical history: cholesteatoma.
Intellectual disability (full-scale IQ 40)
100239257
100277651
38395
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0031-003
NA
M
ASD
NA
NA
99479010
100251410
772401
GRCh38
Duplication
Yes
miclea_22_DD/ID_discovery_cases-case45
3 yrs.
F
Developmental delay and intellectual disability
Global developmental delay, short stature, dysmorphic features
Intellectual disability
98981662
100333766
1352105
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case8514_202
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
100408929
100589943
181015
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1422A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU071803; NDAR ID NDAR_INVBN319UY9)
99936027
99940114
4088
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case03HI2537A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
96437833
96456477
18645
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI1097A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU012204; NDAR ID NDAR_INVGK022ERE)
99936027
99940114
4088
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case59794L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
100004394
100013283
8890
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68160L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
99018546
99794714
776169
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case77405L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
100004394
100013283
8890
Unknown
Deletion
No
sabbagh_23_ASD/DD/ID_discovery_cases-case10
2.3 yrs.
M
ASD and developmental delay
Birth/neonatal history: perinatal complications (arrhyhtmia). Developmental milestones: neurodevelopmental delay, delayed ability to walk (18 months), speech delay (non-verbal). Behavioral/psychiatric evaluation: autism spectrum disorder (poor social interactions), anxiety disorder, sleep disturbance. Immunological evaluation: recurrent respiratory infections. Additonal medical history: bilateral single palmar crease, ventricular septal defect. Dysmorphic features: thin eyebrows, small palpebral fissures, broad nasal bridge. Growth parameters: macrocephaly (head circumference +3 SD).
99165915
99216426
50512
GRCh38
Deletion
No
sabbagh_23_ASD/DD/ID_discovery_cases-case15
44 yrs.
F
Developmental delay
Developmental milestones: neurodevelopmental delay, speech delay. Behavioral/psychiatric evaluation: sleep disturbance. Immunological evaluation: allergic asthma, autoimmune disorders (JIA and crescentic glomerulonephritis), abnormal immunophenotyping (elevated CD3+/HLA-DR+ levels, reduced levels of CD4+ naive T cells, increased levels of CD4+ memory T cells, elevated TEMRA CD8+ levels, and reduced TEM CD8+ levels). Additional medical history: bilateral sandal gap, kidney failure, and keratitis in childhood. Dysmorphic features: craniosynostosis, thiin eyebrows, hypertelorism, bulbous nasal tip, beaked nose, long columella, long and smooth philtrum, thin upper lip vermillion. Growth parameters: microcephaly (head circumference at birth -2.5 SD, currently at -2 SD), increased body weight (+2 SD).
98293381
99240452
947072
GRCh38
Deletion
No
sabbagh_23_ASD/DD/ID_discovery_cases-case18
8 yrs.
M
ASD, developmental delay, and intellectual disability
Developmental milestones: neurodevelopmental delay, delayed ability to walk (18 months), speech delay (first words at 24 months), inability to read. Behavioral/psychiatric evaluation: autism spectrum disorder (stereotypies), anxiety disorder, sleep disturbance. Dysmorphic features: bulbous nasal tip, thin upper lip vermillion, arched palate.
Intellectual disability
99240392
99794396
554005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
96160259
96321410
161152
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11118.p1
11.7
F
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
98715049
98727250
12202
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11356.p1
11.5
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 72; verbal IQ, 77
98715049
98727250
12202
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
99404235
99413475
9241
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
99931981
99951653
19673
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
98710831
98727250
16420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
97641041
97646489
5449
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
98711970
98728699
16730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
97663665
97674343
10679
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
98566646
98589986
23341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12208.p1
7.4
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12301.p1
13.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 115; verbal IQ, 122
100028901
100038047
9147
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
98710831
98727250
16420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
97663665
97674343
10679
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12655.p1
8.9
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 64; verbal IQ, 28
97663665
97674343
10679
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
98568439
98589986
21548
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
98710831
98727250
16420
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
100428188
100452704
24517
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13304.p1
6.9
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
100402890
100409440
6551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13362.p1
4.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 87
98711970
98727250
15281
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case56
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
96217636
96222271
4636
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case57
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
96218433
96222271
3839
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case472
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
99395414
99484233
88820
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case473
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
100915376
100998647
83272
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlREACH000367
N/A
F
Control
Control from REACH cohort
96501514
96501874
361
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlSSC08371
N/A
F
Control
Control from SSC cohort
97298967
97299228
262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB805034_1007875356
N/A
N/A
Control
No previous psychiatric history
96010026
96061264
51239
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control22
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split286
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
98300114
98587669
287556
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12317.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12317. SRS score of 46.
99936028
99939327
3300
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13116.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13116. SRS score of 42.
98716191
98717274
1084
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control14201.s1
N/A
F
Control
Unaffected sibling from SSC quad family 14201. SRS score of 45.
98716191
98717274
1084
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12317.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99936028
99939327
3300
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13748.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
98716191
98717274
1084
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14201.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
98716191
98717276
1086
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
98711970
98727250
15281
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
97641041
97647148
6108
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
98568439
98589986
21548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
99931981
99941211
9231
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
98568439
98589986
21548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12972.s1
7.2
F
Control (matched sibling)
NA
NA
98568439
98589986
21548
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
98711970
98727250
15281
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000364
PCR or SNP data validation
Paternal
PAPOLA
cherik_22_DD/ID_discovery_cases-caseYY1-3
De novo
EML1,EVL,MEG3,BEGAIN,WDR25,SLC25A29,DEGS2,SLC25A47,LINC00523,VDAC3P1,RTL1,MIR136,MIR127,MIR345,MIR493,MIR432,MIR433,MIR342,MIR431,MIR337,MIR665,MIR770,MIR151B,MIR2392,MIR6764,RN7SKP92,WARS1,RN7SL523P,RNU1-47P,DLK1,YY1
digregorio_17_DD/ID_discovery_cases-DECIPHER_296462
qPCR
De novo
LINC02295,RN7SL714P,RPL3P4,RNU6-91P,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,LINC02291,BCL11B,CCNK,LINC02325
engchuan_15_ASD_discovery_cases-case16030_1571003001
Unknown
DEGS2,EVL
engchuan_15_ASD_discovery_cases-case3562_3
Unknown
RNU1-47P,VDAC3P1,MIR151B,MIR342,CYP46A1,EML1,EVL
engchuan_15_ASD_discovery_cases-case8514_202
Unknown
RN7SKP92,BEGAIN,WDR25
fan_18_DD/ID_discovery_cases-subject1
De novo
Likely segregated
RNU6-91P,SETD3,CCDC85C,BCL11B,CCNK
fan_18_DD/ID_discovery_cases-subject2
De novo
Likely segregated
RPL3P4,RNU6-91P,SETD3,CCDC85C,BCL11B,CCNK
fan_18_DD/ID_discovery_cases-subject3
De novo
Likely segregated
LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,LINC02291,BCL11B,CCNK,EML1,EVL
gabriele_17_DD/ID_discovery_cases-case254518
De novo
Likely segregated
LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,BEGAIN,BCL11B,CCNK,EML1,EVL,YY1,WDR25
gabriele_17_DD/ID_discovery_cases-case256842
De novo
Likely segregated
MIR151B,MIR342,MIR6764,DEGS2,SLC25A29,EVL,YY1
gabriele_17_DD/ID_discovery_cases-case266323
Unknown
Unknown
RNU2-33P,PEBP1P1,RPL23AP10,RN7SKP108,LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,BDKRB1,GSKIP,PAPOLA,LINC02299,LINC00618,LINC02304,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,ATG2B,VRK1,LINC02291,BCL11B,CCNK,EML1,EVL,YY1,WDR25,AK7,LINC02325
gabriele_17_DD/ID_discovery_cases-case271459
De novo
Likely segregated
MIR6764,MIR345,SLC25A47,RN7SKP92,SLC25A29,RN7SL523P,WARS,BEGAIN,YY1,WDR25,LINC00523
gabriele_17_DD/ID_discovery_cases-case272547
De novo
Likely segregated
MIR6764,MIR345,SLC25A47,SLC25A29,RN7SL523P,YY1
gabriele_17_DD/ID_discovery_cases-caseSA1
De novo (mosaic)
Likely segregated
RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,BCL11B,CCNK,EML1,EVL,YY1,WDR25
gabriele_17_DD/ID_discovery_cases-caseSA2
De novo
Likely segregated
RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,BEGAIN,DLK1,BCL11B,CCNK,EML1,EVL,YY1,WDR25,LINC00523
girirajan_13a_ASD_discovery_cases-AU012204
Unknown
Multiplex
Unknown
RNU1-47P,EML1
girirajan_13a_ASD_discovery_cases-AU022203
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
RNU1-47P,EML1
girirajan_13a_ASD_discovery_cases-AU071803
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
RNU1-47P,EML1
girirajan_13a_ASD_discovery_cases-AU1053302
Unknown
Multiplex
Unknown
RNU1-47P,EML1
iourov_12_ASD/ID/EP_discovery_cases-case23
FISH
Unknown
Unknown
Unknown
MIR2392,DLK1,MEG3,LINC00523
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001890
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,LINC00618,LINC02304,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,VRK1,LINC02291,BCL11B,CCNK,EML1,EVL,LINC02325
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003764
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,LINC02291,BCL11B,CCNK,EML1,EVL,YY1,WDR25,LINC02325
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005405
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,DEGS2,SLC25A29,RN7SL523P,WARS,BEGAIN,DLK1,EVL,YY1,WDR25,MEG3,LINC00523
kanduri_15_ASD_discovery_cases-case1490
Maternal
Unknown
Unknown
ATG2B,BDKRB1,BDKRB2
kanduri_15_ASD_discovery_cases-case1491
Maternal
Unknown
Unknown
ATG2B,BDKRB1,BDKRB2
kanduri_15_ASD_discovery_cases-case2991
Maternal
Unknown
Unknown
MIR2392 (non-coding RNA, exonic)
krumm_13_ASD_discovery_cases-case11118.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
C14orf177
krumm_13_ASD_discovery_cases-case11356.p1
Maternal
Simplex
Segregated
C14orf177
krumm_13_ASD_discovery_cases-case11894.p1
Maternal
Simplex
Segregated
EML1
krumm_13_ASD_discovery_cases-case13116.p1
Paternal
Simplex
Not segregated
C14orf177
krumm_15_ASD_discovery_cases-case11118.p1
Illumina 1M
Paternal
Simplex
Segregated
C14orf177
krumm_15_ASD_discovery_cases-case11122.p1
Illumina 1M
Paternal
Simplex
Segregated
EML1
krumm_15_ASD_discovery_cases-case11356.p1
Illumina 1M
Maternal
Simplex
Segregated
C14orf177
krumm_15_ASD_discovery_cases-case12420.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
C14orf177
krumm_15_ASD_discovery_cases-case14081.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
EML1
leblond_19_ASD_discovery_cases-casePN400116
Unknown
Simplex
Unknown
MIR6764,YY1
marshall_08_ASD_discovery_cases-SK0031-003
qPCR, qmPCR
Unknown
NA
NA
RNU1-47P,VDAC3P1,MIR151B,MIR342,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,CCNK,EML1,EVL,YY1
miclea_22_DD/ID_discovery_cases-case45
Unknown
EML1,EVL,BCL11B,HHIPL1,SETD3,SLC25A29,DEGS2,SLC25A47,CCDC85C,VDAC3P1,MIR345,MIR342,MIR151B,MIR6764,RNU6-91P,RN7SL523P,RNU1-47P,YY1,CCNK,CYP46A1
pinto_14_ASD_discovery_cases2-case8514_202
qPCR
Maternal
Multiplex
Unknown (not tested)
RN7SKP92,BEGAIN,WDR25
poultney_13_ASD_discovery_cases-case00HI1422A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EML1
poultney_13_ASD_discovery_cases-case03HI2537A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
AK7
poultney_13_ASD_discovery_cases-case99HI1097A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
EML1
prasad_12_ASD_discovery_cases-case59794L
Unknown
Unknown
Unknown
WDR25
prasad_12_ASD_discovery_cases-case68160L
Unknown
Unknown
Unknown
HHIPL1,DEGS2,CYP46A1,EVL,EML1,YY1,MIR342,CCDC85C,CCNK
prasad_12_ASD_discovery_cases-case77405L
Unknown
Unknown
Unknown
WDR25
sabbagh_23_ASD/DD/ID_discovery_cases-case10
De novo
BCL11B
sabbagh_23_ASD/DD/ID_discovery_cases-case15
De novo
BCL11B,LINC02914,RPL3P4,RN7SL714P
sabbagh_23_ASD/DD/ID_discovery_cases-case18
De novo
EML1,BCL11B,HHIPL1,SETD3,CCDC85C,RNU6-91P,CCNK,CYP46A1
sanders_11_ASD_discovery_cases-11002.p1
Paternal
Simplex (quad-proband matched)
Segregated
CKS1BP1,BDKRB1,BDKRB2,ATG2B
sanders_11_ASD_discovery_cases-11118.p1
Paternal
Simplex (quad-proband matched)
Segregated
C14orf177
sanders_11_ASD_discovery_cases-11266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-11356.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-11712.p1
Unknown
Simplex (quad-proband matched)
Segregated
SETD3
sanders_11_ASD_discovery_cases-11894.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU1-47P,EML1
sanders_11_ASD_discovery_cases-11913.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-11918.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02291
sanders_11_ASD_discovery_cases-12008.p1
Maternal
Simplex (trio)
NA
C14orf177
sanders_11_ASD_discovery_cases-12019.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
C14orf177
sanders_11_ASD_discovery_cases-12041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02291
sanders_11_ASD_discovery_cases-12184.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12208.p1
Maternal
Simplex (trio)
NA
C14orf177
sanders_11_ASD_discovery_cases-12301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
EVL
sanders_11_ASD_discovery_cases-12420.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-12638.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC02291
sanders_11_ASD_discovery_cases-12655.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02291
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
C14orf177
sanders_11_ASD_discovery_cases-12828.p1
Paternal
Simplex (trio)
NA
C14orf177
sanders_11_ASD_discovery_cases-12832.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12859.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-13013.p1
Maternal
Simplex (trio)
NA
WDR25
sanders_11_ASD_discovery_cases-13070.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C14orf177
sanders_11_ASD_discovery_cases-13304.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
WDR25
sanders_11_ASD_discovery_cases-13362.p1
Paternal
Simplex (trio)
NA
C14orf177
wenger_16_ASD_discovery_cases-case56
Unknown
BDKRB2
wenger_16_ASD_discovery_cases-case57
Unknown
BDKRB2
yin_16_ASD_discovery_cases-case472
Unknown
Unknown
Unknown
RNU6-91P,SETD3,CCNK
yin_16_ASD_discovery_cases-case473
Unknown
Unknown
Unknown
SNORD113-1,SNORD113-2,SNORD113-3,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-8,SNORD113-9,SNORD114-1,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MEG8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000367
PCR or SNP data validation
Paternal
PAPOLA
brandler_18_ASD_discovery_controls-controlSSC08371
Not available
Unknown
engchuan_15_ASD_discovery_controls-controlB805034_1007875356
Unknown
C14orf132
girirajan_13a_ASD_discovery_controls2-control22
Unknown
EML1
kanduri_15_ASD_discovery_controls-control_split286
Unknown
C14orf64 (non-coding RNA, exonic)
krumm_13_ASD_discovery_controls-control12317.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
EML1
krumm_13_ASD_discovery_controls-control13116.s1
Paternal
Simplex
C14orf177
krumm_13_ASD_discovery_controls-control14201.s1
Maternal
Simplex
C14orf177
krumm_15_ASD_discovery_controls-control12317.s1
Illumina 1MDuo
Paternal
EML1
krumm_15_ASD_discovery_controls-control13748.s1
Omni2.5-4v1
Maternal
C14orf177
krumm_15_ASD_discovery_controls-control14201.s1
Omni2.5-4v1
Maternal
C14orf177
sanders_11_ASD_discovery_controls-11187.s1
Maternal
Simplex (quad)
NA
C14orf177
sanders_11_ASD_discovery_controls-11913.s1
Paternal
Simplex (quad)
NA
C14orf177
sanders_11_ASD_discovery_controls-11918.s1
Maternal
Simplex (quad)
NA
LINC02291
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12317.s1
Paternal
Simplex (quad)
NA
EML1
sanders_11_ASD_discovery_controls-12832.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12972.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13070.s1
Maternal
Simplex (quad)
NA
C14orf177
No Animal Model Data Available