16q24.3CNV Type: Deletion-Duplication
Largest CNV size: 378000 bp
Statistics Box:
Number of Reports: 34
Number of Reports: 34
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.
Deletion
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
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
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature
Duplication
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or
Deletion-Duplication
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
97000
1
0
1
borja_23_ADHD/ID_discovery_cases
Patient with KBG syndrome due to a de novo 16q24.3 microdeletion affecting the first non-coding exon of the ANKRD11 gene
1
Case diagnosed with ADHD and anxiety disorder and presented with mild intellectual disability.
11 yrs.
Female
43001
1
0
1
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
283600
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
253137
1
0
1
bucerzan_20_ASD/DD/ID/EP_discovery_cases
Patient presented to the Department of Genetic Diseases of the Emergency Hospital for Children (Cluj-Napoca, Romania)
1
Case diagnosed with autism spectrum disorder (ASD) and intellectual disability (WISC-IV) and presenting with global developmental delay and seizures
7 yrs.
Female
113557
0
1
1
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
200000
1
0
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
252918
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
73531
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
166450
3
4
7
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
40914
1
0
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
1015940
0
1
1
ho_22_DD/ID_discovery_cases
Individuals with de novo 16q24.3 deletions affecting the ANKRD11 gene (from an initial cohort of 10 Chinese patients with KBG syndrome)
2
Both case presented with developmental delay/intellectual disability
Range, 9-29 yrs.
50.00% Male
277181
2
0
2
isrie_12_ID_discovery_cases
Two unrelated patients referred for genetic screening due to short stature and additional phenotypes
2
Borderline intellectual disability (ID), short staure, and minor dysmorphisms in both cases. Male patient has additional diagnosis of ADHD.
Range, 15-19 yrs.
50% Male
220000
2
0
2
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
890359
9
1
10
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
84002
4
2
6
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
20954
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
83074
2
1
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
30000
2
0
2
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
265667
1
0
1
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases
Subjects with 16q24.3 deletions affecting the ANKRD11 gene from an initial cohort of 67 patients with KBG syndrome from 64 families who were recruited from 19 different centres across Spain.
9
Subjects presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or seizures.
NA
NA
666208
9
0
9
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
113558
0
1
1
novara_17_DD/ID_discovery_cases
Individuals with 16q24.2-q24.3 deletions with patient data submitted to ClinVar
12
Majority of cases present with developmental delay (DD) and/or intellectual disability (ID)
Range, 14 mos.-48 yrs.
66.67% Male
829000
3
0
3
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
283883
2
0
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)
34074
3
0
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
247427
1
1
2
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
182000
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
108194
1
3
4
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
148568
15
5
20
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
245090
1
0
1
willemsen_10_ASD_discovery_cases
Male ASD patients (patient 2 was previously included in Marshall et al., 2008 Canadian autism cohort CNV study)
4
1 case diagnosed with borderline ASD, 3 cases diagnosed with ASD
Range, 3 yrs. 3 mo.-22 yrs.
100% male
378000
2
0
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
309000
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
328000
0
3
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
250298
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
192464
4
4
8
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
76434
4
0
4
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
103406
1
2
3
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
52762
1
0
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
20954
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
27116
2
0
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
247427
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.
31215
5
1
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
borja_23_ADHD/ID_discovery_cases
Guatemalan/Cuban/Puerto Rican
aCGH
NA
NA
NA
WGS, RT-PCR
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bucerzan_20_ASD/DD/ID/EP_discovery_cases
Romanian
Solid phase hybridization
Illumina Infinium OmniExpress-24 v.1.2
None
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
ho_22_DD/ID_discovery_cases
Chinese
aCGH
Agilent CGX v2.0
isrie_12_ID_discovery_cases
European
aCGH
CytoSure ISCA v2, Agilent 180K
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases
Spain
aCGH
aCGX 60K platform (CGXTM, PerkinElmer) CytoScan
NA
NA
None
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
novara_17_DD/ID_discovery_cases
N/A
aCGH
Agilent 180K, Agilent 60K, BlueGnome 0.5Mb Cytochip v3.1, Agilent 180K custom, Agilent 105K custom, Nimblegen 135K WG CGH 1.3, OGT 180K Cytosure ISCA v2 array, BACs aCGH
FISH
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD), MLPA, MAQ
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
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
willemsen_10_ASD_discovery_cases
Array SNP
Combined two-chip 500K SNP array (Affymetrix NspI & StyI)
qPCR
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bartnik_12_EP_discovery_cases-case14
NA
F
Epilepsy and autistic features
Age of onset of epilepsy: 9 months. Seizure types/epilepsy syndrome: Refractory epilepsy with tonic seizures and continuous spikes and waves during slow wave sleep (CSWS). Rett-like syndrome. Parental phenotype: normal.
Profound developmental delay.
89098845
89195496
96652
GRCh38
Deletion
No
borja_23_ADHD/ID_discovery_cases-case1
11 yrs.
F
ADHD and intellectual disability
Birth/neonatal history: born full-term by spontaneous vaginal delivery after an uncomplicated pregnancy; birth weight 3487 (25th-50th %ile). Developmental milestones: met early developmental milestones. Behavioral/psychiatric evaluation: diagnoses of ADHD and anxiety disorder. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: long and mildly triangular face, synophrys, hirsutism, broad and bushy eyebrows, long eyelashes, mild ptosis of the left eyelid, prominant nasal base, bulbous nasal tip, thick alae nasi, macrodontia, ridged teeth. Growth parameters: height 1.43 meters (25th-50th %ile), weight 35.8 kg (25th-50th %ile). Family history: first child of a 27-year-old mother of Guatemalan ancestry and 27-year-old father of Cuban and Puerto Rican ancestry; no known parental consanguinity; family history otherwise unremarkable.
Mild intellectual disability with global cognitive delays (cognitive ability of a 6-year-old at 11 years of age); difficulties in reading and math in the first grade.
89456592
89499592
43001
GRCh38
Deletion
Yes
bowling_17_DD/ID_discovery_cases-case00203-C
N/A
N/A
Intellectual disability and epilepsy
Intellectual disability (moderate); Seizures; Developmental regression; Thrombocytopenia; Short stature; Imperforate anus
Moderate intellectual disability
89259593
89543192
283600
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0067-000
N/A
M
ASD
Case from MSSNG cohort
89205290
89458426
253137
GRCh38
Deletion
No
bucerzan_20_ASD/DD/ID/EP_discovery_cases-case1
7 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy/seizures
Birth/neonatal history: premature birth (35 weeks) following a pregnancy complicated by double nuchal cord, birth asphyxia, postnatal intraventricular hemorrhage. Developmental milestones: significant global developmental delay (gross motor delay, fine motor delay, cognitive delay, delayed social development, delayed speech and language development). Motor and musculoskeletal evaluation: muscular hypotonia, bilateral clinodactyly of the fifth finger, reduced bone density. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder. Epilepsy/seizures: generalized seizures (onset at 2.5 years). Additional medical history: bicuspid aortic valve, subclinical hypothyroidism (moderately increased TSH levels). Dysmorphic features: low frontal hairline, low posterior hairline, prominent anteverted ears, convergent strabismus, blue sclera, telecanthus, broad nasal bridge with bulbous nasal tip, macrodontia of the upper central incisors, long philtrum, thin upper lip vermillion, short neck. Growth parameters: microcephaly (HC -2.82 SD), short stature (height -3.97 SD), decreased body weight (-2.61 SD).
Intellectual disability (WISC-IV IQ 30)
89476287
89589843
113557
GRCh38
Duplication
No
ceylan_18_DD/ID_discovery_cases-case14
15 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: long and triangular face structure, large and protruding ears. Other findings: degenerative myopia.
Intellectual disability
89275781
89485986
210206
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0067-000
NA
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: unilateral cryptorchidism noted at birth. Developmental milestones: global developmental delay (pulling to stand but not walking and 3 single words with meaning at 21 months). Language and communication evaluation: 100-word vocabulary but mainly used repetitively with occasional verbal requesting at 3 years 3 months. Motor and musculoskeletal evaluation: fine motor difficulties noted at 7 years 11 months. Brain imaging: enlarged cisterna magna. Dysmorphic features: long palpebral fissures, smooth philtrum, thin upper lip, wide mouth and full red lips, very pointed chin, large and low-set outstanding ears, hypoplastic nasal alae, wide fingernail beds.
Nonverbal IQ score of 100 at 6 years of age.
89205474
89458391
252918
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case343
NA
NA
ASD and intellectual disability
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R. EEG: negative. Additional medical history: blood exams negative, other than vitamin D2 below normal levels.
Intellectual disability
89321704
89395234
73531
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14246_3700
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89694244
89860694
166451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14356_4700
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90022029
90075069
53041
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14376_4890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89832059
89863434
31376
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14382_4950
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89204078
89245991
41914
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20089_1391001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89769915
89830866
60952
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4374_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88749633
88792194
42562
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5314_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89854549
89895253
40705
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000011
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S15
N/A
89686514
89727428
40915
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D1990
11 mos. 10 days
M
Developmental delay
Facial dysmorphism
88690403
89706342
1015940
GRCh38
Duplication
No
ho_22_DD/ID_discovery_cases-case4
9 yrs.
M
Developmental delay/intellectual disability
Facial gestalt characteristic of KBG syndrome, macrodontia, developmental delay/intellectual disability, brachydactyly, atrial septal defect, patent ductus arteriosus, mild hearing deficit.
89231697
89362173
130477
GRCh38
Deletion
No
ho_22_DD/ID_discovery_cases-case5
29 yrs.
F
Developmental delay/intellectual disability
Facial gestalt characteristic of KBG syndrome, macrodontia, developmental delay/intellectual disability, postnatal short stature, brachydactyly.
89216542
89493722
277181
GRCh38
Deletion
No
isrie_12_ID_discovery_cases-patient1
15 yrs.
F
Intellectual disability and autistic features
Patient referred to genetics department at age of 6 years due to short stature, developmental delay, and mild dysmorphic features. Birth/neonatal history: born after in vitro fertilization triplet pregnancy at 37 weeks of gestation (delivery by C-section); birth weight -2.7 SD; uneventful neonatal period. Developmental milestones: marked developmental delay; walking at 24 months, spoke first words at 30 months; from age of 4 years on, received supportive therapy for poor speech and motor development. Language and communication evaluation: hoarse voice. Behavioral/psychiatric evaluation: no formal diagnosis of ASD, although mother mentioned her introvert personality and concentration problems. EEG: normal. Brain imaging: normal. Other features: bilateral conductive hearing loss (moderate hearing loss of -35dB). Dysmorphic features: mild synophrys, small nasal bridge, full nose with bulbous tip, broad mouth, pointed chin, bilateral clinodactyly of 5th fingers, broad flattened thorax, wide-spaced nipples, short neck. Growth parameters: short staure; height of 152 cm (-2 SD), weight of 50 kg (0 SD), OFC of 54.5 cm (0 SD) at 15 years of age. Family history: non-consanguineous parents; one of twin brothers born with unilateral cleft lip, hemivertebrae of L3, thirteenth rib and spina bifia occulta; both siblings had normal psychomotor development.
Borderline intellectual disability (total IQ of 75 on WISC-R)
89277485
89499248
221764
GRCh38
Deletion
No
isrie_12_ID_discovery_cases-patient2
19 yrs.
M
Intellectual disability and ADHD
Patient referred to department of clinical genetics at age of 19 years for short stature. Birth/neonatal history: born at 37 weeks of gestation after uneventful pregnancy; birth weight 0 SD and length -1.7 SD; large fontanel with delayed closure. Developmental milestones: delayed motor development (walked at age of 2 years); normal speech development. Behavioral/psychiatric evaluation: diagnosis of ADHD. Epilepsy/seizures: grand mal seizures for which he used medication until age of 5 years (seizure-free after this age). Other features: hearing slightly impaired on one side. Dysmorphic features: high and broad forehead, cowlicks, slightly deep-set eyes, mild synophrys, broad nose with short columella, protruding ears, broad mouth, prominent chin, short metacarpals of 4th and 5th fingers of left hand, short 5th middle phalanges. Growth parameters: short stature; height of 165 cm (-2.5 SD) and head circumference of 57.9 cm (+0.3 SD) at 19 years of age. Family history: non-consanguineous parents; younger brother with above average IQ.
Borderline intellectual disability (total IQ of 77 on WISC-R at age of 9 years)
89268820
89406360
137541
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000947
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88818756
89413158
594403
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001159
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89665706
90081985
416280
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001673
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89570545
89814613
244069
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001735
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88640116
89530475
890360
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001769
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89225411
89530534
305124
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002440
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89730086
90081985
351900
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002497
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89154317
89195486
41170
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002667
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88662702
89454555
791854
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002765
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89791645
90000807
209163
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003829
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89830573
90044855
214283
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11615.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89653903
89737905
84003
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11857.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
88805439
88811899
6461
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12742.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
89194861
89228562
33702
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12942.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89892192
89923458
31267
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13830.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89709776
89729318
19543
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14233.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89979958
89994136
14179
GRCh38
Deletion
Yes
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case15
5.5 yrs.
NA
Hoarse voice, wide fontanelles with delayed closure
89171712
89274753
103042
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case16
3.5 yrs.
NA
Developmental delay
Behavioral problems, developmental delay, delayed speech development, wide fontanelles with delayed closure
89277485
89517986
240502
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case17
6 yrs.
NA
ASD and developmental delay
Behavioral problems (ASD), delayed speech development
89195406
89489612
294207
GRCh38
Duplication
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case18
5 yrs.
NA
Poor weight gain, hoarse voice, behavioral problems
89266045
89305443
39399
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case19
6 yrs.
NA
Developmental delay and intellectual disability
Poor weight gain, behavioral problems, delayed speech development, wide fontanelles with delayed closure
Mild intellectual disability
89277485
89431539
154055
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case20
22 yrs.
NA
Learning difficulties
Short stature (height -3.3 SD), behavioral problems
Learning problems
89458995
89487166
28172
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case21
15 yrs.
NA
Developmental delay and learning difficulties
Poor weight gain, short stature (height -3.37 SD), macrodontia, behavioral problems, delayed speech development
Learning problems
89481147
89489612
8466
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case22
5 yrs.
NA
ASD and developmental delay
ASD, developmental delay, delayed speech development, partial sagittal craniosynostosis
89409759
89418313
8555
GRCh38
Deletion
No
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case23
13 yrs.
NA
ADHD, developmental delay, and intellectual disability
Poor weight gain, short stature, macrodontia, hoarse voice, ADHD, delayed speech development
Mild intellectual disability
89277485
89489140
211656
GRCh38
Deletion
No
larson_17_ASD_discovery_cases-case105
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
89822102
89843056
20955
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11615.p1
NA
M
ASD
NA
NA
89654083
89737156
83074
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11800.p1
NA
M
ASD
NA
NA
89730577
89742705
12129
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12382.p1
NA
M
ASD
NA
NA
89877797
89901236
23440
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown59
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
89578363
89608678
30316
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown60
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
89578363
89608678
30316
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0067-000
NA
M
ASD
moderate language delay, severe repetitive behavior, moderate dysmorphism, motor delay, alloimmune ITP
IQ/LOF Unknown
89206684
89472351
265668
GRCh38
Deletion
Yes
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG1
NA
M
Developmental delay and intellectual disability
Birth/neonatal history: intrauterine growth retardation, birth length <10th %ile, birth weight <10th %ile. Developmental milestones: motor delay, language delay. Motor and musculoskeletal evaluation: hypotonia. Brain imaging: normal. Additional medical history: patent foramen ovale, astigmatism, feeding difficulties. Dysmorphic features: triangular face, microretrognathia, thin upper lip, long philtrum, abnormal eyebrows (synophrys), large and/or prominent ears.
Moderate intellectual disability
89269898
89287677
17780
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG2
NA
M
Intellectual disability and seizures
Birth/neonatal history: intrauterine growth retardation, birth length <3rd %ile, birth weight 10th %ile. Developmental milestones: normal. Epilepsy/seizures: generalized seizures. Brain imaging: normal. Dysmorphic features: triangular face, microretrognathia, thin upper lip, abnormal eyebrows (synophrys), perthes.
Mild intellectual disability
89190069
89439815
249747
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG22
NA
NA
ADHD
Birth/neonatal history: birth weight 20th %ile. Motor and musculoskeletal evaluation: hypotonia, brachydactyly, fetal pads. Behavioral/psychiatric evaluation: ADHD. Brain imaging: pineal cyst. Additional medical history: recurrent otitis media, visual problems (strabismus). Dysmorphic features: webbed neck, microretrognathia, thick lips, macrodontia, long philtrum, abnormal eyebrows (synophrys), anteverted nares, bulbous nasal tip.Growth parameters: height 50th %ile, OFC 50th %ile.
Normal intelligence
89293292
89312898
19607
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG23
NA
NA
Developmental delay and intellectual disability
Birth/neonatal history: birth length 32nd %ile, birth weight 42nd %ile. Developmental milestones: motor delay, language delay. Brain imaging: normal. Additional medical history: neurosensorial hearing loss, recurrent otitis media. Dysmorphic features: triangular face, microretrognathia, thin upper lip, macrodontia, long philtrum, hypertelorism, long and upslanting palpebral fissures, anteverted nares, bulbous nasal tip, large and/or prominent ears, chin punctate, palms sulcation abnormalities. Growth parameters: height 3rd-10th %ile, OFC 50th %ile.
Moderate intellectual disability
89258978
89342739
83762
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG25
NA
M
Dysmorphic features
Birth/neonatal history: birth length 10th %ile, birth weight 39th %ile. Dysmorphic features: brachycephaly, macrodontia, abnormal eyebrows (synophrys). Growth parameters: height 3rd-10th %ile, OFC 13th %ile.
Normal intelligence
89490209
89490596
388
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG26
NA
M
ADHD, developmental delay, and intellectual disability
Birth/neonatal history: birth length 25th %ile, birth weight 50th %ile, pregnancy and perinatal complications. Developmental milestones: motor delay, language delay. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ADHD. Brain imaging: normal. Additional medical history: hearing loss, recurrent otitis media, hypermetropia, feeding difficulties, inguinal hernia, umbilical hernia, cryptorchidism. Dysmorphic features: abnormal head shape (brachycephaly), low anterior hairline, macrostomia, thin upper lip, macrodontia, smooth philtrum, hypertelorism, wide palpebral fissures, bulbous nasal tip, prominent nose, large and/or prominent ears, low-set ears, facial asymmetry. Growth parameters: OFC 10th %ile.
Intellectual disability
89194990
89352723
157734
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG38
NA
NA
ASD and developmental delay
Birth/neonatal history: intrauterine growth retardation, birth weight <1st %ile (-2.81 SD), pregnancy and perinatal complications. Developmental milestones: language delay. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ASD. Additional medical history: hearing loss, obstructed tear ducts, feeding difficulties. Dysmorphic features: low anterior hairline, short neck, triangular face, microretrognathia, macrostomia, thin lips, long philtrum, abnormal eyebrows (synophrys), wide palpebral fissures, large and/or prominent ears, low-set ears, short columella, left preauricular appendix, long and bushy eyelashes. Growth parameters: height 25th-50th %ile, OFC 6th %ile.
89283302
89541333
258032
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG58
NA
NA
ADHD and intellectual disability
Birth/neonatal history: intrauterine growth retardation, birth length 45th %ile, birth weight 40th %ile. Behavioral/psychiatric evaluation; ADHD. Additional medical history: ventricular septal defect (spontaneously closed). Dysmorphic features: thick lips, macrodonita, teeth malposition, prominent philtrum, abnormal eyebrows, anteverted nares, bulbous nasal tip, large and/or prominent ears. Growth parameters: short stature (height -2.5 SD).
Mild intellectual disability
89217280
89512722
295443
GRCh38
Deletion
No
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG9
NA
NA
Seizures
Birth/neonatal history: birth length 40th %ile, birth weight 64th %ile, pregnancy and perinatal complications. Brain imaging: subacute right parietal hemorrhagic lesion, vascular abnormalities. Epilepsy/seizures: focal seizures. Additional medical history: bicuspid aortic valve, moderate valvular pulmonary stenosis. Dysmorphic features: thin lips, prominent philtrum, hypertelorism, short and upslanting palpebral fissures, anteverted nasal tip. Growth parameters: OFC 71st %ile.
Normal intelligence
88788348
89454555
666208
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case109
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
89476286
89589843
113558
GRCh38
Duplication
No
novara_17_DD/ID_discovery_cases-case10
4 yrs. (deceased)
F
Developmental delay
Birth/neonatal history: N/A. Developmental milestones: global developmental delay. Epilepsy/seizures: possible seizure episode at 4 years of age (tonic extension with fixed gaze followed by lethargy). EEG: diffuse, very slow background activity, slow occipital rhythm, lateralization to the left occipital-posterior lobe temporal activity. Brain imaging: CT scan of the brain at 4 years of age identified possible underdevelopment of the inferior cerebellar vermis. Additional medical history: intermittent eostropia; high hyperopia; hypoplasia of the left ventricle; aortic annulus; aortic arch; cleft mitral valve with a combination of mitral stenosis and insufficiency; pulmonary hypertension resolved after mitral valve surgery at 9 months. Dysmorphic features: no dysmorphic facial features. Growth parameters: head circumference of 39.9 cm (< -2 SD) at age of 7 months and 42.8 cm (< -2 SD) at age of 22 months. Patient is present in DECIPHER (BAY249412) and ClinVar (SCV000328250).
Global developmental delay
89409043
89585740
176698
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case11
14 yrs.
F
Intellectual disability
Birth/neonatal history: uneventful pregnancy and delivery. Developmental milestones: motor delay (sitting alone at 2.5 years, walking alone at 4 year 6 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: skeletal anomalies. Behavioral/psychiatric evaluation: ASD; autistic symptoms; poor eye contact and interactions with others; stereotypies (hand flapping, bruxism); self-injurious behavior (hand-biting); sleep disorders. Epilepsy/seizures: seizures (onset at 1 year of age). EEG: no EEG abnormalities reported. Brain imaging: bilateral atrophy of cerebral white matter. Additional medical history: chronic rhinitis. Dysmorphic features: long palpebral fissures, broad nose, high nasal bridge, broad mouth, macrodontia, synophrys, hypertelorism, large bulbous nose with anteverted nares and small extremities. Growth parameters: height 145 cm (< -2 SD), head circumference 53 cm (< -1 SD). Family history: fifth child of healthy parents who are first-degree cousins, all sisters and brothers were healthy. Patient is present in DECIPHER (PAR259954) and ClinVar (SCV000328251).
Intellectual disability
89095276
89438698
343423
GRCh38
Deletion
No
novara_17_DD/ID_discovery_cases-case4
3 yrs. 2 mos.
F
Developmental delay
Birth/neonatal history: pregnancy complicated by IUGR and polyhydramnios; delivery induced at 38 weeks gestation; birth weight 2200 g (< -2 SD), birth length < -2 SD, OFC at birth 32.3 cm (< -2 SD); Apgar scores 9/10. Developmental milestones: developmental delay; expressive language delay; delayed motor milestones; good receptive language and social ability. Motor and musculoskeletal evaluation: proximally placed thumbs; rounded distal phalanx of thumbs and big toes; delayed bone age (bone age of 8 months at 19 months of age); asymmetrical skull shape. Epilepsy/seizures: none reported. EEG: no EEG abnormalities reported. Brain imaging: no structual brain malformations reported. Additional medical history: small muscular ventricular septal defect, one membranous ventricular septal defect with mildly dysplastic pulmonary valve; sagittal suture; transitory leg hemihypertrophy. Dysmorphic features: high forehead, prominent forehead, frontal bossing, arched eyebrows, low set ears, posteriorly rotated ears, broad nose with a bulbous tip, low nasal bridge, smooth philtrum, pointed chin, single palmar crease (right hand), plagiocephaly. Growth parameters: short stature; height < -2 SD, head circumference normal. Family history: first child of unrelated parents born from intracytoplasmic sperm injection pregnancy due to polycystic ovarian disease and low sperm count. Patient is present in DECIPHER (WLN265435) and ClinVar (SCV000328244).
Developmental delay
88688904
89518004
829101
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case54
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: ANKRD11 deletion
89224718
89508601
283884
GRCh38
Deletion
Yes
pfundt_16_NDD_discovery_cases-case56
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: de novo deletion
89193469
89270910
77442
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3066A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1212302; NDAR ID NDAR_INVLH488CAM)
89524004
89529581
5578
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3710A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1419302; NDAR ID NDAR_INVVT259HAE)
89761947
89796020
34074
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-caseHI4537
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1412301; NDAR ID NDAR_INVMC166PX6)
88858617
88859974
1358
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case139459L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87296425
87402438
106014
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case65344
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87804802
88052228
247427
Unknown
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase18
8 yrs.
M
Learning disability (developmental delay/intellectual disability)
Microcephaly
89326996
89508597
181602
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
90002651
90083514
80864
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1376-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
90035976
90083514
47539
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: yes.
Developmental delay: yes. Intellectual disability: N/A.
89174375
89231544
57170
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 3 mos).
Developmental delay: yes. Intellectual disability: N/A.
89577593
89685786
108194
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
89830652
89830866
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
89830652
89830866
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
90082388
90224745
142358
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
89363245
89390942
27698
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11439.p1
6.8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
89100686
89103763
3078
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
88638362
88658321
19960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
90042424
90106288
63865
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
88647093
88647125
33
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11615.p1
12.6
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
89658164
89738447
80284
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11664.p1
7.3
M
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 44; verbal IQ, 43
89830652
89830866
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
88980031
88991153
11123
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11718.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 108
88887936
88918217
30282
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
89732556
89740723
8168
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
88805500
88827008
21509
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
89765487
89796702
31216
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12114.p1
16.7
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
89830652
89830866
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12284.p1
10.8
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 61
89508168
89510638
2471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
89808348
89836074
27727
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
88646840
88658321
11482
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
89055510
89204078
148569
GRCh38
Deletion
No
tammimies_15_ASD_discovery_cases-case3-0067-000
N/A
M
ASD
Large cisterna magna. Dysmorphic features: long palpebral fissures, smooth philtrum, thin upper lip, wide mouth, extremely pointed chin.
89206684
89451773
245090
GRCh38
Deletion
No
willemsen_10_ASD_discovery_cases-patient1
22 yrs.
M
ASD (borderline)
Height 3-10th percentile, head circumference 90th percentile; high forehead, bitemporal narrowing, long oval face, long palpebral fissures, large ears, smooth philtrum, broad mouth, pointed chin, micrognathia, high palate; corpus callosum hypoplasia, colpocephaly; heterotopias; absence & generalized seizures; strabismus; kyphoscoliosis
Moderate MR
89056091
89436091
380001
GRCh38
Deletion
No
willemsen_10_ASD_discovery_cases-patient2
3 yrs. 3 mo.
M
ASD
Height 10-25th percentile, head circumference 50th percentile; frontal bossing, long palpebral fissures, large ears, smooth philtrum, broad mouth, pointed chin, micrognathia; normal unenhanced CT cerebrum; neonatal thrombopenia (resolved); patient was included in Marshall et al., 2008 Canadian autism cohort study)
Normal nonverbal IQ, moderate-severe speech delay
89206091
89466091
260001
GRCh38
Deletion
Yes
xu_16_ASD/DD/ID_discovery_cases-case36
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
89601292
89910568
309277
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0175-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
89283592
89609592
326001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0175-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
89281592
89609592
328001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0817-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD, Learning disability, Speech/Language Delay - Communication Skills Problem
89100093
89350592
250500
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0817-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
89099807
89350104
250298
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036001469_
N/A
N/A
Control
No previous psychiatric history
88708513
88837062
128550
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
N/A
N/A
Control
No previous psychiatric history
89197443
89231544
34102
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB422760_1007840446
N/A
N/A
Control
No previous psychiatric history
89217262
89258444
41183
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
N/A
N/A
Control
No previous psychiatric history
89777821
89859148
81328
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB631008_1007873717
N/A
N/A
Control
No previous psychiatric history
89984899
90046540
61642
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB948396_1007875247
N/A
N/A
Control
No previous psychiatric history
88713682
88906146
192465
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
N/A
N/A
Control
No previous psychiatric history
89575253
89611222
35970
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
N/A
N/A
Control
No previous psychiatric history
89965741
90106288
140548
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control18
NA
NA
Control
Control from WTCCC
88639009
88715442
76434
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control19
NA
NA
Control
Control from WTCCC
89226542
89250626
24085
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control20
NA
NA
Control
Control from SAGE
89217401
89258444
41044
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control21
NA
NA
Control
Control from SAGE
89197443
89231544
34102
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control13396.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
88701261
88804667
103407
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13636.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
90006334
90075910
69577
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14407.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
89221127
89228562
7436
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0317
23 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
89636035
89688796
52762
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-11318.s1
NA
M
Control
NA
NA
89754842
89777756
22915
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11354.s1
NA
F
Control
NA
NA
88892868
88919983
27116
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
89830652
89830866
215
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
89758657
89777821
19165
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
89363245
89390942
27698
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
89765487
89796702
31216
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
88642080
88658321
16242
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12284.s1
12.2
F
Control (matched sibling)
NA
NA
89508168
89510638
2471
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bartnik_12_EP_discovery_cases-case14
Paternal
LINC02138,LINC00304,CDH15,ACSF3
borja_23_ADHD/ID_discovery_cases-case1
WGS, RT-PCR
De novo
Simplex
Segregated
ANKRD11,SPG7
RT-PCR analysis demonstrated reduced ANKRD11 gene expression.
bowling_17_DD/ID_discovery_cases-case00203-C
Unknown
Unknown
RNU6-430P,ANKRD11,SPG7
brandler_18_ASD_replication_cases-case3-0067-000
No validation step reported
De novo
RNU6-430P,ZNF778,ANKRD11
bucerzan_20_ASD/DD/ID/EP_discovery_cases-case1
Unknown
Simplex
RPL13,SNORD68,CPNE7,ANKRD11,SPG7
ceylan_18_DD/ID_discovery_cases-case14
De novo
RNU6-430P,ANKRD11
chan_22_ASD_discovery_cases-case3-0067-000
RT-PCR, qPCR, or ddPCR
De novo
ANKRD11,ZNF778,RNU6-430P
cucinotta_23_ASD_discovery_cases-case343
Maternal
ANKRD11
engchuan_15_ASD_discovery_cases-case14246_3700
Unknown
SPATA2L,VPS9D1-AS1,CDK10,VPS9D1,ZNF276,SPIRE2,FANCA
engchuan_15_ASD_discovery_cases-case14356_4700
Unknown
GAS8-AS1,GAS8,PRDM7,URAHP
engchuan_15_ASD_discovery_cases-case14376_4890
Unknown
SPIRE2
engchuan_15_ASD_discovery_cases-case14382_4950
Unknown
ZNF778
engchuan_15_ASD_discovery_cases-case20089_1391001
Unknown
SPIRE2,FANCA
engchuan_15_ASD_discovery_cases-case4374_1
Unknown
PIEZO1
engchuan_15_ASD_discovery_cases-case5314_3
Unknown
SPIRE2,TCF25
fitzgerald_14_ASD/DD/ID_discovery_cases-case000011
De novo
Unknown
Unknown
SPATA2L,VPS9D1-AS1,CDK10,LINC02166,VPS9D1,ZNF276
han_22_ASD/DD/ID_discovery_cases-case16D1990
Unknown
APRT,CBFA2T3,CDH15,DPEP1,CPNE7,TRAPPC2L,ANKRD11,CDT1,RNF166,SPATA33,SPATA2L,SLC22A31,ACSF3,ZNF778,GALNS,LINC00304,CTU2,PABPN1L,LINC02138,SNORD68,MIR4722,RPL13,CHMP1A,LINC02166,SPG7,RNU6-430P,CDK10,PIEZO1
ho_22_DD/ID_discovery_cases-case4
De novo
ANKRD11,ZNF778
ho_22_DD/ID_discovery_cases-case5
De novo
ANKRD11,ZNF778,SPG7,RNU6-430P
isrie_12_ID_discovery_cases-patient1
De novo
Simplex
Likely segregated
RNU6-430P,ANKRD11,SPG7
isrie_12_ID_discovery_cases-patient2
De novo
Simplex
Likely segregated
ANKRD11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000947
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
TRAPPC2L,PABPN1L,LINC02138,SLC22A31,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,ANKRD11,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001159
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPATA2L,VPS9D1-AS1,CENPBD1,GAS8-AS1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,FANCA,MC1R,URAHP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001673
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPATA2L,VPS9D1-AS1,CPNE7,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,CHMP1A,FANCA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001735
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
IL17C,CYBA,SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,PIEZO1,ANKRD11,SPG7,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001769
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-430P,ZNF778,ANKRD11,SPG7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002440
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CENPBD1,GAS8-AS1,ZNF276,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,FANCA,MC1R,URAHP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002497
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02138,LINC00304,CDH15,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002667
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SNAI3,CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,MVD,SNAI3-AS1,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,PIEZO1,ANKRD11,ACSF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002765
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
CENPBD1,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,FANCA,MC1R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003829
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CENPBD1,GAS8-AS1,SPIRE2,TCF25,TUBB3,DEF8,AFG3L1P,DBNDD1,GAS8,MC1R,URAHP
krumm_15_ASD_discovery_cases-case11615.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SPATA2L,VPS9D1-AS1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,CHMP1A,FANCA
krumm_15_ASD_discovery_cases-case11857.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CDT1,APRT
krumm_15_ASD_discovery_cases-case12742.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
SLC22A31,CDH15,ZNF778
krumm_15_ASD_discovery_cases-case12942.p1
1M-Duov3
Maternal
Simplex
Segregated
TCF25,TUBB3,MC1R
krumm_15_ASD_discovery_cases-case13830.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
VPS9D1-AS1,VPS9D1,ZNF276
krumm_15_ASD_discovery_cases-case14233.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
AFG3L1P
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case15
De novo
CDH15,ANKRD11,SLC22A31,ZNF778
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case16
Unknown
ANKRD11,SPG7,RNU6-430P
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case17
Unknown
CDH15,ANKRD11,SLC22A31,ZNF778,RNU6-430P
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case18
Unknown
ANKRD11
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case19
De novo
ANKRD11
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case20
Unknown
ANKRD11
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case21
Unknown
ANKRD11
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case22
Unknown
ANKRD11
kutkowska-kazmierczak_21_ASD/ADHD/DD/ID_discovery_cases-case23
Unknown
ANKRD11,RNU6-430P
larson_17_ASD_discovery_cases-case105
Unknown
Unknown
SPIRE2
levy_11_ASD_discovery_cases-11615.p1
Maternal
Simplex
Segregated
SPATA2L,VPS9D1-AS1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,CHMP1A
levy_11_ASD_discovery_cases-11800.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
ZNF276,FANCA
levy_11_ASD_discovery_cases-12382.p1
Paternal
Simplex
Segregated
TCF25
maini_18_ASD/DD/ID_discovery_cases-case_unknown59
Paternal
Unknown
Unknown
CPNE7
maini_18_ASD/DD/ID_discovery_cases-case_unknown60
Paternal
Unknown
Unknown
CPNE7
marshall_08_ASD_discovery_cases-NA0067-000
qPCR, qmPCR
De novo
Simplex
NA
RNU6-430P,ZNF778,ANKRD11
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG1
De novo
ANKRD11
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG2
Unknown
CDH15,ANKRD11,SLC22A31,ZNF778
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG22
Unknown
ANKRD11
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG23
De novo
ANKRD11
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG25
Unknown
ANKRD11
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG26
De novo
CDH15,ANKRD11,SLC22A31,ZNF778
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG38
Unknown
ANKRD11,SPG7,RNU6-430P
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG58
De novo
ANKRD11,ZNF778,SPG7,RNU6-430P
martinezcayuelas_22_ASD/ADHD/DD/ID_discovery_cases-caseKBG9
De novo
APRT,CBFA2T3,CDH15,TRAPPC2L,ANKRD11,CDT1,SLC22A31,ACSF3,ZNF778,GALNS,LINC00304,PABPN1L,LINC02138,RNU6-430P
miclea_22_DD/ID_discovery_cases-case109
Unknown
CPNE7,ANKRD11,SNORD68,RPL13,SPG7
novara_17_DD/ID_discovery_cases-case10
De novo
Segregated
RNU6-430P,RPL13,SNORD68,CPNE7,ANKRD11,SPG7
novara_17_DD/ID_discovery_cases-case11
De novo
Simplex
Segregated
LINC02138,SLC22A31,LINC00304,CDH15,ZNF778,ANKRD11,ACSF3
novara_17_DD/ID_discovery_cases-case4
FISH
De novo
Segregated
CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,LINC02138,SLC22A31,RNU6-430P,RNF166,GALNS,CBFA2T3,LINC00304,CDH15,ZNF778,PIEZO1,ANKRD11,SPG7,ACSF3
pfundt_16_NDD_discovery_cases-case54
Array SNP (Affymetrix CytoScan HD)
RNU6-430P,ZNF778,ANKRD11,SPG7
pfundt_16_NDD_discovery_cases-case56
MLPA or MAQ
De novo
SLC22A31,CDH15,ZNF778,ANKRD11
poultney_13_ASD_discovery_cases-case04HI3066A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPG7
poultney_13_ASD_discovery_cases-case05HI3710A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FANCA
poultney_13_ASD_discovery_cases-caseHI4537
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TRAPPC2L
prasad_12_ASD_discovery_cases-case139459L
Unknown
Unknown
Unknown
CTU2,FAM38A,CDT1,RNF166
prasad_12_ASD_discovery_cases-case65344
Unknown
Unknown
Unknown
ZNF778,ANKRD11
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase18
BACs aCGH or FISH
Unknown
Unknown
Unknown
RNU6-430P,ANKRD11,SPG7
sajan_13_ACC/CBLH/PMG_discovery_cases-case1049-0
qPCR
Paternal
Unknown
Unknown
GAS8-AS1,DBNDD1,GAS8,PRDM7,URAHP
sajan_13_ACC/CBLH/PMG_discovery_cases-case1376-0
qPCR
Maternal
Unknown
Unknown
GAS8,PRDM7,URAHP
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR00-086
qPCR
Maternal
Unknown
Unknown
SLC22A31,CDH15,ZNF778
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-194
qPCR
Paternal
Unknown
Unknown
CPNE7,DPEP1,SPATA33,CDK10,LINC02166,CHMP1A
sanders_11_ASD_discovery_cases-11014.p1
Unknown
Simplex (quad-proband matched)
Segregated
SPIRE2
sanders_11_ASD_discovery_cases-11045.p1
Paternal
Simplex (quad-proband matched)
Segregated
SPIRE2
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
RNU6-355P,PRDM7,TUBB8P7,FAM157C,LINC02193
sanders_11_ASD_discovery_cases-11429.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKRD11
sanders_11_ASD_discovery_cases-11439.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ACSF3
sanders_11_ASD_discovery_cases-11491.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IL17C,CYBA,MVD
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Segregated
GAS8,PRDM7,TUBB8P7,URAHP,FAM157C
sanders_11_ASD_discovery_cases-11612.p1
Both parents
Simplex (trio)
NA
CYBA
sanders_11_ASD_discovery_cases-11615.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SPATA2L,VPS9D1-AS1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,FANCA
sanders_11_ASD_discovery_cases-11664.p1
Both parents
Simplex (trio)
NA
SPIRE2
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11718.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CBFA2T3
sanders_11_ASD_discovery_cases-11800.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
ZNF276,FANCA
sanders_11_ASD_discovery_cases-11857.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDT1,APRT,GALNS
sanders_11_ASD_discovery_cases-11883.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FANCA
sanders_11_ASD_discovery_cases-12114.p1
Maternal
Simplex (trio)
NA
SPIRE2
sanders_11_ASD_discovery_cases-12284.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SPG7
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
SPIRE2,FANCA
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
CYBA,MVD
sanders_11_ASD_discovery_cases-12710.p1
Unknown
Simplex (trio)
NA
LINC02138,SLC22A31,LINC00304,CDH15,ACSF3
tammimies_15_ASD_discovery_cases-case3-0067-000
De novo
Unknown
Possibly segregated
RNU6-430P,ZNF778,ANKRD11
willemsen_10_ASD_discovery_cases-patient1
Unknown (possible de novo)
NA
NA
LINC02138,SLC22A31,LINC00304,CDH15,ZNF778,ANKRD11,ACSF3
willemsen_10_ASD_discovery_cases-patient2
qPCR
Unknown (possible de novo)
NA
NA
RNU6-430P,ZNF778,ANKRD11
xu_16_ASD/DD/ID_discovery_cases-case36
Paternal
SPATA2L,VPS9D1-AS1,DPEP1,SPATA33,CDK10,LINC02166,VPS9D1,ZNF276,SPIRE2,TCF25,CHMP1A,FANCA
yuen_17_ASD_discovery_cases-case1-0175-003
Affymetrix 6.0
Maternal
Simplex
Unknown
RNU6-430P,RPL13,SNORD68,CPNE7,ANKRD11,SPG7
yuen_17_ASD_discovery_cases-case1-0175-004
Affymetrix 6.0
Maternal
Simplex
Unknown
RNU6-430P,RPL13,SNORD68,CPNE7,ANKRD11,SPG7
yuen_17_ASD_discovery_cases-case1-0817-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
LINC02138,SLC22A31,LINC00304,CDH15,ZNF778,ANKRD11,ACSF3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0817-003
RT-qPCR or WGS
Unknown
LINC02138,SLC22A31,LINC00304,CDH15,ZNF778,ANKRD11,ACSF3
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036001469_
Unknown
CTU2,MIR4722,CDT1,APRT,GALNS,PIEZO1
engchuan_15_ASD_discovery_controls-controlB225250_1007853739
Unknown
SLC22A31,ZNF778
engchuan_15_ASD_discovery_controls-controlB422760_1007840446
Unknown
ZNF778
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
Unknown
SPIRE2,FANCA
engchuan_15_ASD_discovery_controls-controlB631008_1007873717
Unknown
GAS8-AS1,AFG3L1P,DBNDD1,GAS8,URAHP
engchuan_15_ASD_discovery_controls-controlB948396_1007875247
Unknown
CTU2,MIR4722,CDT1,APRT,TRAPPC2L,PABPN1L,GALNS,CBFA2T3,PIEZO1
engchuan_15_ASD_discovery_controls-controlHABC_900159_900159
Unknown
CPNE7
engchuan_15_ASD_discovery_controls-controlHABC_902817_902817
Unknown
CENPBD1,GAS8-AS1,DEF8,AFG3L1P,DBNDD1,GAS8,PRDM7,TUBB8P7,URAHP,FAM157C
handrigan_13_ASD/DD/ID_discovery_controls-control18
Unknown
IL17C,CYBA,SNAI3,CTU2,MVD,SNAI3-AS1,RNF166,PIEZO1
handrigan_13_ASD/DD/ID_discovery_controls-control19
Unknown
ZNF778
handrigan_13_ASD/DD/ID_discovery_controls-control20
Unknown
ZNF778
handrigan_13_ASD/DD/ID_discovery_controls-control21
Unknown
SLC22A31,ZNF778
krumm_15_ASD_discovery_controls-control13396.s1
1M-Duov3
Maternal
CTU2,MIR4722,CDT1,RNF166,PIEZO1
krumm_15_ASD_discovery_controls-control13636.s1
Omni2.5-4v1
Paternal
GAS8-AS1,DBNDD1,GAS8,PRDM7,URAHP
krumm_15_ASD_discovery_controls-control14407.s1
Omni2.5-4v1
Paternal
ZNF778
kushima_18_ASD/SCZ_discovery_controls-controlCON0317
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
DPEP1,SPATA33,CDK10,LINC02166,CHMP1A
levy_11_ASD_discovery_controls-11318.s1
Maternal
Simplex
NA
FANCA
levy_11_ASD_discovery_controls-11354.s1
Paternal
Simplex
NA
CBFA2T3
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
SPIRE2
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
FANCA
sanders_11_ASD_discovery_controls-11429.s1
Paternal
Simplex (quad)
NA
ANKRD11
sanders_11_ASD_discovery_controls-11883.s1
Maternal
Simplex (quad)
NA
FANCA
sanders_11_ASD_discovery_controls-11986.s1
Unknown
Simplex (quad)
NA
CYBA,MVD
sanders_11_ASD_discovery_controls-12284.s1
Paternal
Simplex (quad)
NA
SPG7
No Animal Model Data Available