22q13.33CNV Type: Deletion-Duplication
Largest CNV size: 2260000 bp
Statistics Box:
Number of Reports: 77
Number of Reports: 77
Summary Information
Microdeletions within the 22q13.3 locus can lead to 22q13.3 microdeletion syndrome; individuals with this syndrome frequently display global developmental delay and delayed speech. CNVs within this locus in autistic individuals may include or be adjacent to the SHANK3 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
Duplication
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum dis...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion-Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Deletion
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
Duplication
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Deletion
Cardiovascular abnormalities in patients with SHANK3 pathogenic variants: Beyond neurodevelopmental disorders and epilepsy
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
1201518
1
0
1
alhazmi_22_ASD_discovery_cases
Saudi ASD probands with copy number variation in chromosome 22.
15
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Range, 3-12 yrs.
80.0% Male
807534
1
0
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
367686
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
615000
1
0
1
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
95000
1
0
1
boccuto_12_ASD_discovery_cases
133 ASD cases from South Carolina Autism Project (SCAP) and 88 ASD cases from Italy screened for variants in the SHANK3 gene
221
Diagnosis of ASD. Diagnosis of SCAP cohort established by ADI-R, ADOS, and/or CARS. Diagnosis of Italian cohirt based on meeting ADI-R and/or ADOS criteria. 203 isolated cases, 18 familial cases.
NA
76.02% Male
106000
1
0
1
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
428500
2
0
2
breckpot_16_ID/catatonia_discovery_cases
Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
15
Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
Adult
N/A
97000
2
0
2
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
25000
1
0
1
bui_24_ASD_discovery_cases
Vietnamese ASD probands from trio families who were diagnosed at Vinmec International Hospital from January 1st, 2017 to 31st December 31st, 2018 who were screened from de novo copy number variants.
100
Cases were diagnosed with autism spectrum disorder by Diagnostic and Statistical Manual of Mental Disorders (DSM) version 4 or 5, Autism Diagnostic Observation Schedule (ADOS) and Childhood Autism Rating Scale (CARS).
Range, 3-18 yrs. (average, 6.91 yrs.)
83.00% Male
1571124
2
0
2
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
437873
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
1136185
2
0
2
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
327335
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
327335
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
178948
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
147000
2
0
2
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
13000
1
0
1
chorin_25_ASD/ADHD/DD/ID_discovery_cases
Individuals from Israel with PhelanMcDermid syndrome caused by 22q13.33 deletions or SHANK3 SNVs evaluated at the Institute for Rare Diseases (IRD) at Sheba Medical Center (SMC).
17
All 17 participants presented with neurodevelopmental phenotypes, including intellectual disability, while 12 individuals (70%) were diagnosed with autism spectrum disorder.
Mean age 108.2 yrs.; range, 2.536 years
41.18% Male
849230
5
0
5
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
570000
0
1
1
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
60000
43
11
54
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
864461
1
1
2
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
115268
6
1
7
esmel_vilomara_24_ASD/DD/ID_discovery_cases
Individual with a de novo 22q13.33 microdeletion from an initial cohort of five patients with de novo variants affecting the SHANK3 gene (Universitat Autonoma de Barcelona, Barcelona, Spain, Sant Pau Biomedical Research Institute, Barcelona, Spain, and Centro de Investigacion Biomedica en Red de Enfermadades Raras, Instituto de Salud Carlos III, Spain).
1
Case presented with non-verbal autism spectrum disorder, developmental delay, intellectual disability, and bilateral tonic-clonic seizures from the age of 9 years.
32 yrs.
Male
455310
1
0
1
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
41658
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
39043
2
0
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
59180
3
0
3
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
49423
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
55807
1
0
1
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
68098
2
0
2
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
68098
0
0
0
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
N/A
1
0
1
guilherme_14_DD/EP/ASD_discovery_cases
Patients with deletions in ring chromosome 22
5
Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
Range, 1-24 yrs.
40% Male
154000
1
0
1
guilmatre_09_ASD_discovery_cases
ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
260
257 cases with autism, 3 cases with Aspberger syndrome
11.8
80.5% Male
2260000
2
0
2
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
673000
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
97846
1
0
1
hu_23_ASD_discovery_cases
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
160
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Mean age, 3.24 +/- 1.27 yrs.
78.12% Male
1194366
1
0
1
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
594869
0
1
1
johannessen_19_ASD/ID/BPD/TS_discovery_cases
A young man with neuropsychiatric problems and a 22q13.33 microduplication evaluated at Oslo Hospital (Oslo, Norway)
1
Case diagnosed with mild intellectual disability, atypical autism spectrum disorder, bipolar disorder, and Tourette syndrome
N/A
M
302852
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
230485
6
1
7
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
2497
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
116370
1
1
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
16496
1
0
1
leblond_14_ASD_replication_cases
Additional ASD cases screened for SHANK3 deletions by MLPA
160
ASD and intellectual disability (ID)
N/A
N/A
N/A
2
0
2
marcou_17_DD/ID_discovery_cases
Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
1
Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
12 yrs.
Female
7172
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
276702
2
0
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1029339
1
0
1
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
1160318
1
0
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
277000
1
0
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
1020000
2
0
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
19789
0
1
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
55800
1
1
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
1258139
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
169750
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
124426
1
0
1
philippe_15_ASD/CDD_discovery_cases
Second child of first-degree-related healthy parents born in Algeria
1
Suspected diagnosis of childhood disintegrative disorder (Heller's dementia infanitilis) based on severe developmental regression following initial normal development. ADI-R scores: score of 20 in domain of reciprocal social interaction (cutoff of 10), score of 13 in communication domain (cutoff of 7), score of 2 in area of repetitive behaviors and stereotyped patterns (cutoff of 3). CARS score of 44.5 (severely autistic)
10 yrs.
Female
40800
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
114886
2
1
3
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
97013
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)
3277
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
300599
2
0
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
312000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
184008
2
0
2
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
9
0
9
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
65553
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
67748
20
3
23
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
102883
2
0
2
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
2756000
1
0
1
soorya_13_ASD/ID_discovery_cases
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
32
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Range, 1.6-45.4 yrs. (mean 8.8, SD 9.2)
56.25% Male
1763369
7
0
7
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
876700
2
0
2
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
1194074
2
0
2
van_der_zwaag_09_ASD_discovery_cases
Samples and phenotypic data from ASD patients, Dept. of Child & Adolescent Psychiatry, UMC Utrcht
105
53 cases diagnosed with non-complex autism, 52 diagnosed with complex autism
15310
0
1
1
vucurovic_12_BPD_discovery_cases
Male patient with late-onset psychiatric features not previously reported in 22q13 deletion/Phelan-McDermid syndrome
1
DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Additional phenotypes: onset of early dementia.
18 yrs.
Male
48845
3
0
3
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
691000
1
0
1
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
260000
1
0
1
xu_20_DD/ID_discovery_cases
Patients with clinical and genetic diagnosis of Phelan-McDermid syndrome from the China League of PMS Rare Disease recruited from 2018 to 2020 with 22q13.33 deletions
20
Cases diagnosed with Phelan-McDermid syndrome and presented with developmental delay/intellectual disability, behavioral abnormalities, and/or seizures
Range, 1.4-7.3 yrs.
60.00% Male
1270739
10
0
10
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
903193
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
147180
2
0
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
36778
1
0
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
256029
1
0
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
851669
4
2
6
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
507028
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% Male
0
0
0
0
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
570000
0
0
0
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
60000
0
0
0
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
67556
11
1
12
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
55807
NA
NA
NA
guilmatre_09_ASD_discovery_controls
Controls
236
Controls
39.5
43.8% Male
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
2497
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
220322
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
62432
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
24845
1
0
1
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
moessner_07_ASD_discovery_controls
European controls and HapMap sample controls
500
controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
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)
300599
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.
61585
19
1
20
van_der_zwaag_09_ASD_discovery_controls
Ethnically matched, unrelated, healthy volunteers recruited by Dept. of Neurology, UMC Utrecht
267
Controls
0
0
0
0
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
691000
0
0
0
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
147180
0
0
0
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
alhazmi_22_ASD_discovery_cases
Saudi Arabia
aCGH
Agilent
ADM-2
Agilent Feature Extraction, Agilent Cytogenomics
None
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
boccuto_12_ASD_discovery_cases
164 Caucasian, 53 African-American, 4 from other racial/ethnic backgrounds
Array SNP
Affymetrix 6.0
Genotyping Console 4.0 (Affymetrix)
None
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
breckpot_16_ID/catatonia_discovery_cases
Belgium
aCGH
OGT CytoSure ISCA
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
bui_24_ASD_discovery_cases
Vietnam
aCGH
Agilent SurePrint G3
ADM-2
Agilent Feature Extraction Software v.11.5.1.1
qPCR
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
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
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
chorin_25_ASD/ADHD/DD/ID_discovery_cases
Jewish ancestry (Israel)
CMA, exome sequencing
FISH
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
esmel_vilomara_24_ASD/DD/ID_discovery_cases
Spain
CMA
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
gorker_18_ASD_discovery_cases
Turkish
MLPA
MRC-Holland P064.C1 and P096.A2 MLPA probe kits
None
guilherme_14_DD/EP/ASD_discovery_cases
Brazil
Karyotyping, solid phase hybridization, array SNP
Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.4
FISH
guilmatre_09_ASD_discovery_cases
France (231), Italy (29)
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
QMPSF, aCGH, FISH
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
hu_23_ASD_discovery_cases
China
Targeted gene sequencing
Panel of 568 ASD-related genes/Illumina HiSeq 2000
NA
CNVseq
qPCR/MLPA
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
johannessen_19_ASD/ID/BPD/TS_discovery_cases
South East Asian
aCGH
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_14_ASD_replication_cases
N/A
MLPA
3130xl Genetic Analyser (Applied Biosystems)
GeneMapper v4.0, Coffalyzer v7
None
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
qPCR, FISH
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
MLPA
Array SNP
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
philippe_15_ASD/CDD_discovery_cases
Algerian
aCGH
N/A
qPCR, MLPA
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
shin_15_ASD/DD/ID_discovery_cases
Korean
MLPA
SALSA MLPA P245 Microdeletion Syndromes probemix
GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Array SNP (Affymetrix CytoScan 750K)
soorya_13_ASD/ID_discovery_cases
Caucasian
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Affymetrix 6.0
MLPA, solid phase hybridization (Illumina Omni 2.5-8 v1)
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
van_der_zwaag_09_ASD_discovery_cases
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
qPCR
vucurovic_12_BPD_discovery_cases
France
aCGH
BlueGnome Array-CGH ISCA
Genepix 6.0, BlueFuse
qPCR, FISH
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
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
xu_20_DD/ID_discovery_cases
China
aCGH, array SNP, MLPA, qPCR, WES
NA
None
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
guilmatre_09_ASD_discovery_controls
Northwestern France
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
moessner_07_ASD_discovery_controls
Array SNP
Affymetrix 500K
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
van_der_zwaag_09_ASD_discovery_controls
Dutch
Solid phase hybridization
HumanHap300 Beadchip
BeadStudio genotyping V2.3.41
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_16_ASD_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2451
N/A
N/A
Developmental delay
Global developmental delay with subtle dysmorphic features, cleft palate, failure to thrive, epilepsy, mosaic hypopigmentation, cardiac abnormalities, and bilateral 2-3 toe syndactyly (Phelan-McDermid Syndrome). Non-consanguineous parents.
Global developmental delay
49581118
50737855
1156738
GRCh38
Deletion
No
alhazmi_22_ASD_discovery_cases-case6
NA
M
ASD
Case diagnosed with ASD based on DSM-5.
49913912
50721445
807534
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB133
N/A
F
ASD
ASD on ADOS; absence of expressive language; normal brain MRI and EEG
50375646
50743331
367686
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case67
4 yrs.
M
PDD-NOS and developmental delay/intellectual disability
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
Moderate DD/ID
50180248
50796016
615769
GRCh38
Deletion
Yes
bitar_19_ASD_discovery_cases-case82
N/A
M
ASD and developmental delay
Case diagnosed with ASD using DSM-IV criteria and CARS. Developmental milestones: developmental delay; delays in language, motor, and social development. Behavioral/psychiatric evaluation: hyperactivity, anxiety, echolalia. Additional medical history: deafness. Family history: born to non-consanguineous parents; history of intellectual disability on the maternal side of the family and of growth retardation in siblings.
50685063
50780581
95519
GRCh38
Deletion
Yes
boccuto_12_ASD_discovery_cases-case14878
22 yrs.
M
Autistic disorder
Delayed speech. He was born at the 40th week of an uneventful pregnancy, his birth weight was 3770 g. As newborn, he suffered of frequent colds and ear infection and received three corrective surgeries for hypospadias. At the age of 8, he developed recurrent urinary tract infections and later he had a partial obstruction of his colon. He was saying three words at 1 year of age, but then he stopped using them and became verbal at about 8 years of age. He has never had seizure activity, but several problems have been reported about hyperactivity and behavioral issues, which required a trial of medication. Patient from South Carolina Autism Project (SCAP).
249475238
249581309
160000
NCBI36
Deletion
No
brandler_18_ASD_discovery_cases-caseMT_47.3
N/A
M
ASD
Case from REACH cohort
49026387
49028280
1894
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSJD_65.3
N/A
M
ASD
Case from REACH cohort
50292072
50720572
428501
GRCh38
Deletion
Yes
breckpot_16_ID/catatonia_discovery_cases-case1
N/A (adult)
F
Intellectual disability and catatonia
Case met DSM-5 criteria for catatonia (symptoms included waxy flexibility, stupor, agitation, posturing, mannerisms, echopraxia, and staring rigidity). Behavioral/psychiatric evaluation: unspecified nonorganic psychosis, autistic behavior. Epilepsy/seizures: post-operative seizure. Dysmorphic features: low anterior hairline, long fingers. Additional medical history: cerebral and cerebellar atrophy.
Profound intellectual disability (FSIQ 19, performance IQ 15, verbal IQ 23)
50685069
50782495
97427
GRCh38
Deletion
No
breckpot_16_ID/catatonia_discovery_cases-case2
N/A (adult)
F
Intellectual disability and catatonia
Case met DSM-5 criteria for catatonia (symptoms included catalepsy, stupor, and agitation). Behavioral/psychiatric evaluation: unspecified nonorganic psychosis, pervasive developmental disorder. Epilepsy/seizures: post-electroconvulsive therpay seizures. Dysmorphic features: micrognathia, mild facial asymmetry. Additional medical history:.
Severe intellectual disability (FSIQ 39)
50685069
50782495
97427
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case11
7
F
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
50714417
50739836
25420
GRCh38
Deletion
Yes
bui_24_ASD_discovery_cases-caseASD080
5 yrs.
F
ASD
Birth/neonatal history: normal pregnancy, born at 40 weeks gestation wihtout complications. Developmental milestones: significant developmental delay, delayed ability to walk (2 years). Language and communication evaluation: can only use a few single words. Behavioral/psychiatric evaluation: diagnosed with autism (ICD-10 F84.0, DSM5 level 3, ADOS 21/12, CARS 49.5), limited social interaction, tendency to play alone, no response to her name, absence of eye contact, hyperactivity, repetitive actions. Brain imaging: hypometabolism in the frontal lobe, parietal lobe, hippocampus, and limbic cortex on PET-CT. Family history: normal family history.
50698898
50731795
32898
GRCh38
Deletion
Yes
bui_24_ASD_discovery_cases-caseASD089
5 yrs.
M
ASD
Birth/neonatal history: normal pregnancy, asphyxiation at birth. Developmental milestones: delayed ability to walk (walked unsupported at 2 years). Language and communication evaluation: lack of expressive speech, limited social communication. Behavioral/psychiatric evaluation: diagnosed with autism (ICD-10 F84.0, DSM 5 level 3, ADOS 20/12, CARS 54), hyperactivity, restricted interests. Family history: normal family history.
49168713
50739836
1571124
GRCh38
Deletion
Yes
calderoni_20_ASD_discovery_cases-caseP1
7 yrs. 9 mos.
F
ASD
Language and communication evaluation: verbal.
IQ 70
50342709
50780581
437873
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0391-000
NA
M
ASD and intellectual disability
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Brain imaging: complex pineal gland cyst. Dysmorphic features: double hair whorl, brachycephaly, upslanting palpebral fissures, short and smooth philtrum, thin upper lip, very deep-set finger and toenails.
Cognitive evaluation at 12 years demonstrated a full scale IQ score of 59, a listening comprehension standard score of 41 (<0.1 centile, 4-year-old level), and an oral expression standard score of 54 (0.1 centile, 5 year 2 month-old level).
50246772
50794372
547601
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0392-000
NA
F
ASD, bipolar disorder, developmental delay, and intellectual disability
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: bilateral vesicoureteral reflux noted at birth (ureteric reimplantation surgery at 5 years). Developmental milestones: global developmental delay with walking at 21 months. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: diagnosed with bipolar disorder at 17 years, hyperphagia. Additional medical history: hypertension. Dysmorphic features: coarse hair with double hair whorl, low frontal and posterior hairlines, short forehead with prominent glabellar region, ocular hypertelorism with long palpebral fissures, short smooth philtrum, large fleshy ears with attached lobules, cross bite, cubitus valgus, large feet with mild cutanoues 2-3 toe syndactyly. Growth parameters: macrocephaly, morbid obesity.
Cognitive evaluation at 22 years demonstrated a full scale IQ score of 51, a listening comprehension standard score of 40 (3 year 2 month-old level), and an oral expression standard score of 40 (3 year 3 month-old level).
49645588
50781772
1136185
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case52
N/A
M
ASD, intellectual disability, and epilepsy
Severe intellectual disability, autism, motor difficulties, facial dysmorphism, congenital anomalies and epilepsy.
Severe intellectual disability
50349764
50677098
327335
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case52
M
ASD, intellectual disability, and epilepsy
ASD, motor difficulties, facial dysmorphism, congenital anomalies, and epilepsy.
Severe intellectual disability
50349764
50677098
327335
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case24
NA
F
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
50560889
50739836
178948
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-1459
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 24 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 12 (past score 14); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 7); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 119; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 35. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
50689477
50796015
106539
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-1957
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 27 (past score 29); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 11 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 8 (past score 8); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
50648836
50796015
147180
GRCh38
Deletion
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
N/A
F
Developmental delay
Severe developmental delay, hypotonia, tuneal ataxia & dymentia, retractory seisure
Severe developmental delay
50694375
50706904
12530
GRCh38
Deletion
Yes
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case10
6 yrs.
F
ASD and developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability (DQ 76), delayed ability to walk (20 months), developmental regression. Language and communication evaluation: verbally communicating. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder. Epilepsy/seizures: none. Brain imaging: N/A.
Developmental delay/intellectual disability (DQ 76)
49956909
50806138
849230
GRCh38
Deletion
No
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case13
12 yrs.
M
ASD, ADHD, OCD, and developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability (DQ 70), delayed ability to walk (18 months). Language and communication evaluation: verbally communicating. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder, ADHD, OCD. Epilepsy/seizures: none. Brain imaging: N/A.
Developmental delay/intellectual disability (DQ 70)
50715652
50740697
25046
GRCh38
Deletion
No
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case14
6 yrs.
M
ADHD and developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability (DQ 55), delayed ability to walk (20 months), developmental regression. Language and communication evaluation: verbally communicating. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: none. Brain imaging: N/A.
Developmental delay/intellectual disability (DQ 55)
50122189
50806138
683950
GRCh38
Deletion
No
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case15
3.5 yrs.
M
ASD, ADHD, developmental delay/intellectual disability, and seizures
Developmental milestones: developmental delay/intellectual disability (DQ 60), walked independently at 15 months. Language and communication evaluation: verbally communicating. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder, ADHD. Epilepsy/seizures: yes. Brain imaging: suspected old hemorrhage in the cerebellum.
Developmental delay/intellectual disability (DQ 60)
50684024
50739836
55813
GRCh38
Deletion
Yes
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case6
10 yrs.
M
Seizures
Developmental milestones: walked independently at 14 months. Language and communication evaluation: verbally communicating with speech dyspraxia. Behavioral/psychiatric evaluation: anxiety, behavioral outbursts. Epilepsy/seizures: yes. Brain imaging: normal.
DQ N/A.
50574727
50759338
184612
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU003404
NA
F
ASD
NA
NA
49009664
49578110
568447
GRCh38
Duplication
Yes
coe_14_ASD/DD/ID_discovery_cases-case448
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case449
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case450
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case451
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case452
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case453
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case454
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case455
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case456
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case457
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case458
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case459
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case460
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case461
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case462
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case463
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case464
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case465
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case466
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case467
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case468
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case469
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case470
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case471
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case472
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case473
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case474
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case475
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case476
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case477
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case478
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case479
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case480
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case481
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case482
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case483
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case484
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case485
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case486
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case487
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case488
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case489
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case490
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case491
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case492
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case493
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case494
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case495
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case496
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case497
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case498
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case499
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case500
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case501
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
50674706
50734706
60001
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
N/A
M
Developmental delay/intellectual disability
50268422
50739836
471415
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300608
N/A
F
Developmental delay/intellectual disability
49920156
50739836
819681
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13162_1793
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16079_1571066001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50685077
50782089
97013
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case3394_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3505_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50508269
50572812
64544
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5125_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5519_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50030504
50145772
115269
GRCh38
Deletion
No
esmel_vilomara_24_ASD/DD/ID_discovery_cases-case5
32 yrs.
M
ASD, developmental delay, intellectual disability, and seizures
Developmental milestones: global psychomotor delay. Behavioral/psychiatric evaluation: non-verbal autism spectrum disorder. Epilepsy/seizures: bilateral tonic-clonic seizures from the age of 9 years. EEG: slow background activity with bilateral symmetrical spike-and-waves or polyspikes. Additional medical history: one episode of post-ictal atrial fibrillation.
Intellectual disability
50325272
50780581
455310
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264167
N/A
M
Developmental delay
Global developmental delay; Delayed speech and language development
50703654
50745312
41659
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1289301
Autism
48202636
48241678
39043
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1289302
Autism
48202636
48241678
39043
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU024003
Autism
49447421
49506600
59180
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU069404
Autism
49447421
49506600
59180
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU069405
Autism
49447421
49506600
59180
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case533-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
49606572
49655995
49424
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case32825
18 yrs.
M
ASD
Severely limited expressive language. Behavioral problems: autism, ADHD, anxiety. Mild hypotonia. Focal epilepsy. Mild asymmetry of hippocampi, small gliosis in frontal lobe, absence of neural hypophysis. Nondysmorphic. Other features: delayed puberty. Growth parameters: short stature. Noncontributory family history.
Developmental delay
50684023
50739830
55808
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-9742760001
NA
ASD
NA
NA
50671564
50739662
68099
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-AU02603
NA
ASD
NA
NA
50671564
50739662
68099
GRCh38
Deletion
Yes
gorker_18_ASD_discovery_cases-case1
N/A
N/A
ASD
ASD; clinical and physical manifestations matched those of Phelan-McDermid syndrome (no further information provided)
N/A
N/A
N/A
GRCh37
Deletion
No
guilherme_14_DD/EP/ASD_discovery_cases-case5
15 yrs.
M
ASD and epilepsy
Case met DSM-IV criteria for typical autism. Birth/neonatal history: uneventful pregnancy, delivery at term by C-section; birth weight of 2450 g (<3rd %ile), birth length of 44 cm (<3rd %ile), and head circumference of 33 cm (3rd %ile). Developmental milestones: normal motor milestones; diminished speech and social interaction at age of 2 years. Language and communication evaluation: delay/absence of expressive speech. Motor and musculoskeletal evaluation: long and thin fingers, bilateral postaxial poldactyly of hands, flat feet. Behavioral/psychiatric evaluation: aggressive behavior beginning at 15 years of age (treated with haloperodil and risperidone). Epilepsy/seizures: seizures beginning at 15 years of age (controlled by carbamazepine). Dysmorphic features: thin habitus, long face, low frontal hairline, thick eyebrows (similar to father), bulbous nose, upper central incisors diastema. Growth parameters: weight of 47 kg (50th-75th %ile), height of 160 cm (75th %ile), and head circumference of 54 cm (50th %ile) at age of 13 years. Family history: first child of healthy non-consanguineous parents; two healthy paternal half-brothers; mother and several other relatives presented post-axial polydactyly of the hands, following autosomal dominant pattern.
51061393
51215613
154000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-case47604
8
M
ASD
NA
IQ<40
47265476
49525070
2260000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-caseSi22
9
M
ASD
Dysmorphism, epilepsy
IQ<40
NA
Unknown
Deletion
Yes
hnoonual_17_ASD_discovery_cases-case2950
N/A
F
ASD
Familial history of lissencephaly
50099472
50772964
673493
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case288
32 yrs.
M
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
50684573
50782418
97846
GRCh38
Deletion
Yes
hu_23_ASD_discovery_cases-case2
NA
M
ASD
Case clinically diagnosed with ASD according to DSM-V criteria.
49502303
50696668
1194366
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case22
1 yr 11 mos.
M
Developmental delay
Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
Severe developmental delay
49538472
50088561
550090
GRCh38
Duplication
No
johannessen_19_ASD/ID/BPD/TS_discovery_cases-case1
N/A
M
ASD, ID, BPD, and Tourette syndrome
Behavioral/psychiatric evaluation: diagnoses of atypical autism spectrum disorder (deficits in social communication and interactions, especially interpretation of emotions and intentions of others, and pragmatic communication), bipolar disorder, mixed type (manic phases with several behavioral outbursts, including agitation, restlessness, aggressive behavior, and emotional instability, followed by a phase with a depressed mood, reduced appetite, withdrawal, and indifference), and Tourette syndrome (vocal and motor tics); restricted field of interests (violent content), thoughts involving fear of contamination, anxiety symptoms. Additional medical history: decreased serum ceruloplasmin (0.15 g/L plasma levels below cut-off). Dysmorphic features: full lips, anteverted nares, protruding ears. Family history: adopted from South East Asia.
Mild intellectual disability (diagnosed in childhood and confirmed by Wechsler Adult Intelligence Scale-IV)
50444968
50747821
302854
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000790
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50685063
50739836
54774
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000944
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50658268
50739836
81569
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001206
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50368887
50599372
230486
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001887
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50620720
50745568
124849
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004051
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50685063
50739836
54774
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004935
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50677679
50739836
62158
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005376
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50684863
50739977
55115
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11716.p1
N/A
M
ASD
ASD proband from SSC quad family 11716. SRS score of 90.
Full-scale IQ (FSIQ) score of 49.
50577774
50580271
2498
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11716.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50576856
50580271
3416
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13647.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50117156
50233526
116371
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2904
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
50689746
50706241
16496
GRCh38
Deletion
Yes
leblond_14_ASD_replication_cases-caseAUN_006
N/A
M
ASD and ID
Autism
Severe intellectual disability
N/A
N/A
N/A
NCBI36
Deletion
No
leblond_14_ASD_replication_cases-caseAUN_007
N/A
M
ASD and ID
Autism
Severe intellectual disability
N/A
N/A
N/A
NCBI36
Deletion
No
marcou_17_DD/ID_discovery_cases-case1
12 yrs.
F
Global developmental delay/intellectual disability
Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
49900884
49908055
7172
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0102-003
NA
M
ASD
Mild language delay, weakness & hypotonia of arms
IQ/LOF 60
49437779
49518159
80381
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0109-003
NA
F
ASD
nonverbal, severe repetitive behavior, mild dysmorphism
IQ/LOF 27
50514674
50791377
276704
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530639
F
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
49789130
50818468
1029339
GRCh38
Deletion
No
miyake_23_ASD_discovery_cases-case15680
NA
M
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
49620440
50780757
1160318
GRCh38
Deletion
Yes
moessner_07_ASD_discovery_cases-case1
NA
F
ASD
Nonverbal speech, poor social interaction, repetitive behaviors
Global developmental delay
50514674
50791377
276704
GRCh38
Deletion
Yes
moreira_14_ASD/EP_discovery_cases-case10
6 yrs.
F
ASD
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: none. Dysmorphic features: none reported. Growth parameters: height of 110 cm (10th-25th %ile), weight of 15.3 kg (<3rd %ile), and head circumference of 51 cm (50th-75th %ile).
49889338
50806138
916801
GRCh38
Deletion
Yes
moreira_14_ASD/EP_discovery_cases-case9
11 yrs.
M
ASD and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular atrophy of the legs. Epilepsy/seizures: yes. Dysmorphic features: none reported. Growth parameters: height of 160 cm (>97th %ile), weight of 50.5 kg (90th-95th %ile), and head circumference of 54.5 cm (75th-98th %ile).
50589152
50796015
206864
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case121503
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected; sibling diagnosis unaffected (positive for CNV).
50716723
50736511
19789
GRCh38
Duplication
Yes
munnich_19_ASD_discovery_cases-case19
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
50684024
50739836
55813
GRCh38
Deletion
Yes
munnich_19_ASD_discovery_cases-case33
N/A
F
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K). CNV inheritance N/A (deceased father).
50674338
50699496
25159
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
49526476
50739836
1213361
GRCh38
Deletion
N/A
nord_11_ASD_discovery_cases-255-1
ASD
48313972
48483721
169750
Unknown
Duplication
No
pfundt_16_nonNDD_discovery_cases-case132
N/A
N/A
Non-NDD
Disease cohort: renal disoder. Description: ALG12 deletion
49794033
49918459
124427
GRCh38
Deletion
No
philippe_15_ASD/CDD_discovery_cases-case1
10 yrs.
F
Childhood disintegrative disorder
Suspected diagnosis of childhood disintegrative disorder (Heller's dementia infanitilis) based on severe developmental regression following initial normal development.. ADI-R scores: score of 20 in domain of reciprocal social interaction (cutoff of 10), score of 13 in communication domain (cutoff of 7), score of 2 in area of repetitive behaviors and stereotyped patterns (cutoff of 3). CARS score of 44.5 (severely autistic). Birth/neonatal history: born by vaginal delivery at full terms (birth weight of 3570 g, length of 51.5 cm, head circumference of 35 cm, Apgar scores 10/10), experienced slowing of embryonic cardiac rhythm during delivery but recovered quickly. Developmental milestones: reportedly normal psychomotor and social development until 2 years of age (sitting on 6 months, starting to walk at 12 months, babbling present before 12 months, able to duplicate syllables at 9 months, pronounced first words at 10 months, first association of words around 18 months, able to use a few words at 2 years, toilet training acquired around 2 years); lack of progression, very poor language, and difficulty focusing attention noted at age of 4 years; increasing agitation and social withdrawal; loss of language skills, toilet-training, and aggravation of agitated behavior following febrile seizure episodes between 5-6 years of age. Language and communication evaluation: language limited to a few words at 7 years, unable to compensate by alternative modes of communication (gesture or mime); complete loss of language abilities by age of 10 years. Behavioral/psychiatric evaluation: very limited imitation and shared attention skills, lack of interest in developing peer relationships, low-grade repetitive activities, extreme agitation, sleep disorders (difficulty falling asleep, frequent night-awakenings), eating disorders (induced vomiting, merycism, pica). Epilepsy/seizures: three episodes of febrile seizures between 5-6 years of age; no overt clincial seizures episode afterwards. EEG: no seizure activity detected after age of 5 years. Brain imaging: cerebral MRI at age of 8 years showed thin corpus callosum in posterior part, hyperintensity on T2-weighted images localized in the hippocampus, and sub-cortical hyperintensity on T2-weighted images localized in the temporal lobes (bilateral temporal gliosis). Auditory and visual evaluation: no auditory or visual impairment. Additional medical history: gastroesophageal reflux. Dysmorphic features: none. Growth parameters: within normal range. Family history: second child of first-degree-related healthy parents born in Algeria; father not available for testing.
Neuropsychomotor asssessment at age of 7 years: unable to obtain developmental profile with Psycho-Educative Profile (PEP-R) due to agitation and lack of participation; heterozygous developmental profile on Brunet-Lezine Scale (development ages of 14 months on language and socialization items, 18 months on visuo-manual prehension coordination, and 42 months for global motor development).
50666057
50706931
40875
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5125_3
NA
M
ASD
NA
NA
49447421
49506600
59180
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5519_3
NA
F
ASD
NA
NA
49447421
49506600
59180
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6046_4
NA
M
Autism
No language, normal physical exam, no epilepsy, normal brain MRI. Younger brother: autism, severe MR, no language, normal physical exam
Severe MR
49452422
49567307
114886
Unknown
Duplication
Yes
pinto_14_ASD_discovery_cases2-case14291_4120
N/A
F
ASD
Autism on ADI-R, ASD on ADOS, language delay (first words 9 mo, first phrases 40 mo), walked at 10 mo, verbal (speaks fluently, spontaneously, with clear pronunciation, but with limited language and without complex sentences), no dysmorphic features or other anomalies, normal neurological exam, normal growth, no epilepsy. Negative family history.
No ID (Griffiths at 5 y: language DQ 69, performance DQ 109, global DQ 93)
50685077
50695152
10076
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case16079_1571066001
N/A
M
ASD
Autism (ADI-R and ADOS positive), language delay (first words 15 mo, first phrases 60 mo), very limited language, lost it at age 12 y, spontaneously. Full term birth, pyloric stenosis, surgery at 10 days old; no other major illness. Chronic encopresis. No dysmorphic features; hypotonia impacts ability to move arms and legs. Generalized seizures at age 16, abnormal EEG. Family history: both parents unaffected; two affected siblings (not tested).
Profound ID (Vineland at 21 y: Communication 19, Daily Living Skills 19, Socialization 19, Adaptive Behavior Composite 19)
50685077
50782089
97013
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2885A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1164303; NDAR ID NDAR_INVRW499TKW)
49997318
50000594
3277
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case168999
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
49145912
49154382
8471
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case46486
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
49270670
49571268
300599
Unknown
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase27
8 yrs.
F
Learning disability (developmental delay/intellectual disability)
No reported clinical features
50594515
50806138
211624
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case18388
NA
NA
ASD
NA
NA
49493686
49549855
56169
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case6385
NA
NA
ASD
NA
NA
49161956
49345964
184008
Unknown
Deletion
Yes
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG001269
NA
M
Intellectual disability
Patient was of European ancestry and presented with intellectual disability, abnormal behavior, and dysmorphic features.
Intellectual disability
50683399
50748951
65553
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11066.p1
8.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ 86
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
49422983
49467384
44402
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
50630132
50639823
9692
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11195.p1
8.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
49447421
49515169
67749
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11239.p1
17.3
F
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11257.p1
5.5
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 118
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
50344544
50345584
1041
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11322.p1
4.2
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11716.p1
16.2
M
Autism
NA
Full-scale IQ, 48.88; non-verbal IQ, 78; verbal IQ, 20
50577245
50580150
2906
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
49447421
49506600
59180
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
50630132
50639823
9692
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12366.p1
4
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 111; verbal IQ, 97
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12483.p1
15.5
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12671.p1
12.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12820.p1
8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 72; verbal IQ, 47
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12960.p1
6.6
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 52; verbal IQ, 42
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
50344544
50345584
1041
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT223
NA
NA
ASD and intellectual disability
Case met DSM-5 diagnostic criteria for ASD. Case also presented with mild intellectual disability.
Mild intellectual disability
50677699
50780581
102883
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT90
NA
NA
ASD and intellectual disability
Case met DSM-5 diagnostic criteria for ASD. Case also presented with mild intellectual disability and expressive dysphasia.
Mild intellectual disability
50685062
50739836
54775
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case15
2 yrs.
M
Developmental delay
Developmental delay
48002739
50716230
2713492
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH10
2.9
M
Hyperactivity and repetitive behaviors
DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 5; B (communication), 8; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 2; social total, 4; communication + social, 6; RRBI, 1; severity score, 3. VABS-II scores: ABC, 75; communication, 79; socialization, 83; daily living, 75; motor, 78. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, recurring URTIs, seasonal allergies. Dysmorphic features: large fleshy hands, long eyelashes, hypoplastic/dysplastic nails, sparse hair/abnormal whorl.
Average IQ; non-verbal IQ 97.42
50684518
50785780
101263
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH14
3.9
F
ASD and intellectual disability
DSM-IV and confirmed diagnosis of ASD. ADI-R scores: A (social), 11; B (communication), 13; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 3; social total, 8; communication + social, 11; RRBI, 0; severity score, 4. VABS-II scores: ABC, 61; communication, 57; socialization, 75; daily living, 60; motor, 64. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, GERD, recurring URTIs. Dysmorphic features: large fleshy hands, ear anomalies, epicanthal folds, hyperextensibility.
Moderate ID; non-verbal IQ 40.17
49873604
50785780
912177
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH18
4.5
F
Intellectual disability
DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 21; B (communication), 10; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 2; social total, 3; communication + social, 5; RRBI, 1; severity score, 2. VABS-II scores: ABC, 69; communication, 59; socialization, 70; daily living, 81; motor, 78. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, aggression, sleep disturbances, febrile seizures. Dysmorphic features: long eyelashes, hypoplastic/dysplastic nails, full lips, full cheeks, microcephaly.
Mild ID; non-verbal IQ 53.9
49683714
50785780
1102067
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH20
10.1
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 24; B (communication), 14; C (RRBIS), 7. ADOS-G Module 1 scores: communication total, 7; social total, 7; communication + social, 14; RRBI, 5; severity score, 9. VABS-II scores: ABC, 51; communication, 57; socialization, 47; daily living, 50; motor, 61. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, recurring URTIs, sleep disturbances, constipation/diarrhea. Dysmorphic features: large fleshy hands, long eyelashes, full lips, epicanthal folds, full cheeks.
Severe ID; non-verbal IQ 23.08
50644690
50785780
141091
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH26
8
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 24; B (communication), 11; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 4; social total, 13; communication + social, 17; RRBI, 4; severity score, 8. VABS-II scores: ABC, 54; communication, 48; socialization, 57; daily living, 54; motor, 56. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, recurring URTIs, renal abnormalities, seasonal allergies, asthma, eczema. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, ear anomalies, hypoplastic/dysplastic nails, epicanthal folds, dolichocephaly, high arched palate, full cheeks, periorbital fullness, wide nasal bridge, long philtrum, sparse hair/abnormal whorl.
Profound ID; non-verbal IQ 15.72
49065028
50785780
1720753
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH27
27.8
M
Autism
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 18; B (communication), 6; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 6; social total, 8; communication + social, 14; RRBI, 4; severity score, 8. VABS-II scores: ABC, 20; communication, 21; socialization, 20; daily living, 21; motor, 22. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hyperactivity, aggression, GERD, sleep disturbances, constipation/diarrhea, seizures, celiac disease. Dysmorphic features: ear anomalies, full lips, macrocephaly, abnormal spine curvature, short stature, 5th finger clinodactyly.
Non-verbal IQ N/A
50677098
50796015
118918
GRCh38
Deletion
No
soorya_13_ASD/ID_discovery_cases-SH8
3.6
F
Intellectual disability
DSM-IV and confirmed diagnosis of not ASD. ADI-R scores: A (social), 20; B (communication), 8; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 2; social total, 3; communication + social, 5; RRBI, 2; severity score, 1. VABS-II scores: ABC, 65; communication, 59; socialization, 72; daily living, 66; motor, 75. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, recurring URTIs, sleep disturbances, food allergies. Dysmorphic features: large fleshy hands, hypoplastic/dysplastic nails, epicanthal folds, hyperextensibility, abnormal spine curvature, wide nasal bridge, sacral dimple, syndactyly of toes 2-3.
Mild ID; non-verbal IQ 57.74
49178198
50785780
1607583
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR053-F1-03C15328
NA
ASD
NA
NA
49287813
50140414
852602
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR072-F11-200501053
NA
ASD
NA
NA
49287813
50140414
852602
GRCh38
Deletion
Yes
tammimies_15_ASD_discovery_cases-case3-0391-000
N/A
M
ASD and intellectual disability
Complex pineal gland cyst (7 mm). Dysmorphic features: double whorl, brachycephaly, upslanting palpebral fissures, short philtrum, smooth philtrum, thin upper lip, deep set fingernails, deep set toenails.
Moderate intellectual disability (IQ of 59)
50252394
50759422
507029
GRCh38
Deletion
No
tammimies_15_ASD_discovery_cases-case3-0392-000
N/A
F
ASD and intellectual disability
Bilateral vesicoureteral reflux. Dysmorphic features: macrocephaly, double crown and low hairlines, short prominent forehead and glabella, long palpebral fissures, hypertelorism, short and smooth philtrum, large fleshy ears, attached lobules, cross bite, cubitis valgus, large feet.
Moderate intellectual disability (IQ of 51)
49646734
50796027
1149294
GRCh38
Deletion
No
van_der_zwaag_09_ASD_discovery_cases-subject140-003
NA
F
Non-complex autism
NA
NA
49353082
49368395
15310
Unknown
Duplication
Yes
vucurovic_12_BPD_discovery_cases-case1
18 yrs.
M
Bipolar disorder (BPD)
DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
50642219
50660852
18634
GRCh38
Deletion
Yes
vucurovic_12_BPD_discovery_cases-case1
18 yrs.
M
Bipolar disorder (BPD)
DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
50677679
50698957
21279
GRCh38
Deletion
Yes
vucurovic_12_BPD_discovery_cases-case1
18 yrs.
M
Bipolar disorder (BPD)
DSM-IV-TR diagnosis of affective bipolar disorder not otherwise specified. Onset of early dementia suspected due to displays of stereotyped behavior, speech regression, and loss of bladder control at age of 17 years. Birth/neonatal history: prenatal karyotype performed due to advanced maternal age; born after full-term pregnancy without complication; growth parameters at birth within normal range. Developmental milestones: no hypotonia in early childhood; walked at 18 months; no difficulties in non-verbal communication and social integration skills in early childhood; daily bladder control acquired by age of 4 years (which was lost at age of 17 yrs.). Language and communication evaluation: severe expressive speech and receptive language delay noted at age of 3 years; poor language development noted at 6 years; regression of expressive speech at age of 17 years. Motor evaluation: motor hyperactivity noted at 16 years. Behavioral/psychiatric evaluation: mental status at age of 3 years associated a persistent pattern of inattention, hyperactivity and impulsive behavior; CARS evaluation score of 28 at age of 6 rated patient as "non-autistic'; patient displayed depressive mood and social isolation around age of 16 years; inpatient psychiatric evaluation at age of 16 years revealed euphoric mood, anorexia with weight loss, poor attention span, difficulties in concentration, disinhibited behavior, affective instability, expensive modd with rapid depressive shifts, but no stereotyped behavior; stereotyped behavior noted at age of 17 years. Brain imaging: no abnormalities observed on brain MRI. Sleep disturbances: non-specific sleep disorder that associated successive hypersomnia and insomnia periods noted at age of 6 years; total insomnia with psychomotor agitation noted at 16 years. Laboratory evaluation: lumbar puncture with dosage of CSF revealed low amyloid beta, low total tau, and normal phosphorylated tau levels. Other medical concerns and comorbidities: twice underwent surgery for severe gastro-esophageal reflux during early childhood. Dysmorphic features: high and narrow forehead, down-slanted palpebral fissures, high and broad nose, microstomia, asymmetric face, protruding ears, ptosis. Growth parameters: height of 1.68 m at 18 yrs. Karyotype: maternally-inherited balanced robertsonain translocation [rob(13;14)(q10;q10). Family history: older brother also inherited maternal rob(13;14)(q10;q10) translocation with no clinical consequences; recurrent depressive disorder in father reported in psychiatric family history.
Diagnosis of severe intellectual deficiency made at age of 6 years after measure of adaptive functioning indicated behavioral profile of 3-year-old child; WISC assessment not possible due to poor language development.
50731736
50780581
48846
GRCh38
Deletion
Yes
wang_10_ASD_discovery_cases-AC0058
35
F
ASD
NA
NA
50053284
50739662
686379
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case37
N/A
F
Phelan-McDermid syndrome
Profound speech delay, motor developmental delay, repetitive behaviors, significant self-injurious behaviors, aggression
Severe intellectual disability
50535313
50796015
260703
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case15
5.7 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: premature birth (born 29 weeks gestation); birth weight 2.95 kg, birth length 52 cm. Developmental milestones: raised head at 3 months, sat independently at 8 months, stood independently at 12 months, walked independently at 13 months; moderate language delay (no words at 2.8 years). Dysmorphic features: periorbital fullness, bulbous nose, thick lower lip. Growth parameters: weight 22.2 kg (75th %ile), height 118 cm (32nd %ile) (OFC not known).
Mild intellectual disability
50682935
50759338
76404
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case19
1.7 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: born 37.3 weeks gestation; birth weight 2.5 kg, birth length 49 cm. Developmental milestones: raised head at 7 months, delayed ability to sit (14 months); severe gross motor delay, moderate fine motor delay, moderate language delay (no words at 1.7 years). Motor and musculoskeletal evaluation: hypotonia. Brain imaging: enlarged ventricles on brain MRI at 0.5 years, arachnoid cyst. Behavioral/psychiatric evaluation: hair-pulling, non-stop crying (triggered by gastroesophageal reflux), pica, repetitive behaviors, impulsivity. Additional medical history: chewing difficulties, diarrhea, recurrent upper respiratory tract infections, congenital heart defect, eczema. Growth parameters: microcephaly (OFC 44 cm, <1st %ile), weight 9.8 kg (10th %ile), height 83 cm (32nd %ile).
Moderate intellectual disability
50720184
50722437
2254
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case19
1.7 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: born 37.3 weeks gestation; birth weight 2.5 kg, birth length 49 cm. Developmental milestones: raised head at 7 months, delayed ability to sit (14 months); severe gross motor delay, moderate fine motor delay, moderate language delay (no words at 1.7 years). Motor and musculoskeletal evaluation: hypotonia. Brain imaging: enlarged ventricles on brain MRI at 0.5 years, arachnoid cyst. Behavioral/psychiatric evaluation: hair-pulling, non-stop crying (triggered by gastroesophageal reflux), pica, repetitive behaviors, impulsivity. Additional medical history: chewing difficulties, diarrhea, recurrent upper respiratory tract infections, congenital heart defect, eczema. Growth parameters: microcephaly (OFC 44 cm, <1st %ile), weight 9.8 kg (10th %ile), height 83 cm (32nd %ile).
Moderate intellectual disability
50683340
50683412
73
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case20
4.7 yrs.
M
Developmental delay
Birth/neonatal history: born 37.3 weeks gestation; birth weight 3.2 kg, birth length 50 cm. Developmental milestones: walking independently at 14 months, raised head at 5 months; language delay (no words at 4.6 years). Behavioral/psychiatric evaluation: excessive screaming, non-stop crying, self-injurious behavior, repetitive behaviors, impulsivity, aggressive behavior. Dysmorphic features: sparse eyebrows, periorbital fullness, ear anomalies (helix, crus, under-development). Growth parameters: weight 15.2 kg (12th %ile), OFC 48 cm (12th %ile), height 107.5 cm (26th %ile).
50689896
50759338
69443
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case21
4.3 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: born 37.3 weeks gestation; birth weight 2.585 kg, birth length 50 cm. Developmental milestones: raised head at 3 months, sat independently at 7 months, stood independently at 12 months, delayed ability to walk (16 months); mild fine motor delay, severe language delay (no words at 1.7 years); developmental regression at 3 years (loss of speech and cognition). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: hair-pulling, non-stop crying, repetitive behaviors, impulsivity, aggressive behavior, sleep disturbance. Additional medical history: increased pain tolerance. Growth parameters: weight 33 kg (62nd %ile), OFC 48 cm (10th %ile), height 108 cm (90th %ile).
Mild intellectual disability
49488560
50759298
1270739
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case23
3.3 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: premature birth (born 29 weeks gestation); birth weight 3.11 kg, birth length 55 cm. Developmental milestones: sat independently at 5 months, raised head at 5 months, stood independently at 16 months, delayed ability to walk (18 months); mild gross motor delay, moderate fine motor delay, severe language delay (single words at 3.3 years); developmental regression at 3 years (loss of speech and cognition; triggered by fever). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatriv evaluation: sleep disturbance. Additional medical history: increased pain tolerance, chewing difficulties, renal abnormalities, eczema. Dysmorphic features: frontal bossing, downturned mouth. Growth parameters: weight 17.2 kg (90th %ile), OFC 50 cm (50th %ile), height 104.5 cm (95th %ile).
Moderate intellectual disability
50552046
50677098
125053
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case26
6.5 yrs.
M
Seizures
Birth/neonatal history: born 41 weeks gestation; birth weight 3.2 kg, birth length 50 cm. Developmental milestones: sat independently at 8 months, walked independently at 12 months, raised head at 1 month, stood independently at 12 months; developmental regression at 2 years (loss of speech and cognitions). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: hair-pulling, non-stop crying, impulsivity, sleep disturbance. Epilepsy/seizures: seizures. EEG: abnormal. Additional medical history: increased pain tolerance, chewing difficulties. Dysmorphic features: long eyelashes, strabismus. Growth parameters: weight 21.2 kg (25th %ile), OFC 52 cm (53rd %ile), height 117 cm (25th %ile).
50684585
50731362
46778
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case27
1.4 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: born 39.1 weeks gestation; birth weight 3.45 kg, birth length 50 cm. Developmental milestones: sat independently at 6 months, raised head at 2 months, stood independently at 16 months; mild gross motor delay, mild fine motor delay, moderate language delay (no words). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: biting (self or others), hair-pulling, non-stop crying, repetitive behaviors, impulsivity, sleep disturbance. Brain imaging: generous extracerebral spaces on brain MRI at 1 year. Additional medical history: overheating or turning red easily. Dysmorphic features: sparse eyebrows. Growth parameters: macrocephaly (OFC 51.5 cm; 100th %ile), tall stature (height 87 cm; 98th %ile), weight 10.3 kg (37th %ile).
Mild intellectual disability
50697563
50731312
33750
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case29
3.1 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: born 38 weeks gestation; birth weight 3.35 kg, birth length 50 cm. Developmental milestones: sat independently at 8 months, delayed ability to walk (walked independently at 18 months), raised head at 3 months, stood independently at 16 months; gross motor delay, mild fine motor delay, severe language delay (no words). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: biting (self or others), hair-pulling, non-stop crying, repetitive behaviors, impulsivity. Brain imaging: large cisterna magna on brain MRI at 2.3 years. Additional medical history: decreased perspiration/heat intolerance, sensitivity to touch, increased pain tolerance, overheating or turning red easily, recurrent upper respiratory tract infections. Growth parameters: weight 16 kg (75th %ile), OFC 50 cm (60th %ile), height 103 cm (90th %ile).
Moderate intellectual disability
49761800
50759338
997539
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case9
7.3 yrs.
M
Developmental delay
Birth/neonatal history: born 38.3 weeks gestation; birth weight 3.4 kg, birth length 50 cm. Developmental milestones: raised head at 2 months, sat independently at 6 months, stood independently at 10 months, walked independently at 14 months; mild fine motor delay, mild language delay (single words or phrases at 3.8 years); developmental regression at 1.4 years (loss of social skills; triggered by fever). Behavioral/psychiatric evaluation: biting (self or others), repetitive behaviors. Brain imaging: leukodystrophy on brain MRI at 1.5 years. Additional medical history: increased pain tolerance, gastroesophageal reflux. Dysmorphic features: descending palpebral fissure, strabismus. Growth parameters: weight 28 kg (75th %ile), OFC 54 cm (95th %ile), height 124 cm (37th).
50634951
50759410
124460
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case4229
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
49900884
50759297
858414
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case633
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
50648836
50796015
147180
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case634
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
50648836
50796015
147180
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01661s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
50703611
50740388
36778
GRCh38
Deletion
No
yuen_16_ASD_discovery_cases-sample3-0392-000
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
49645515
49901543
256029
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0109-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
50563571
50787572
224002
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0242-003
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: milk intolerance. Additional genetic information: 46,XY,der(22)t(1;22)(q44;q13.33)pat.
49991571
50791572
800002
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-0242-004
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies and milk intolerance. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
49989571
50806138
816568
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-0242-005
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: seasonal allergies, severe egg allergy and milk intolerance; cortical displacia. Additional genetic information: 46,XY,der(1)t(1;22)(q44;q13.33)pat.
49991571
50806138
814568
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case3-0391-000
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Speech and Language Delay, Communication Skills Problem; Complex pineal gland cys; Double whorl, brachycephaly, upslanting palpebral fissures, short smooth philtrum and thin upper lip, deep set fingers and toe nails
50246772
50791572
544801
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-caseAU2333302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
50014902
50806138
791237
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0391-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50252394
50759422
507029
GRCh38
Deletion
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-controlB239915_1007841983
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
N/A
N/A
Control
No previous psychiatric history
49445015
49506600
61586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB693312_1007841026
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
N/A
N/A
Control
No previous psychiatric history
49447421
49514719
67299
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
N/A
N/A
Control
No previous psychiatric history
49447421
49514719
67299
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
N/A
N/A
Control
No previous psychiatric history
49439044
49506600
67557
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
N/A
N/A
Control
No previous psychiatric history
49963768
50026435
62668
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
N/A
N/A
Control
No previous psychiatric history
49447421
49506600
59180
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol7
NA
Control
NA
NA
50671564
50739662
68099
GRCh38
Deletion
No
glessner_09_ASD_replication_controls-repcontrol3
NA
Control
NA
NA
50671564
50739662
68099
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control11716.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11716. SRS score of 42.
50577774
50580271
2498
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11716.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50576856
50580271
3416
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13647.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50117156
50233526
116371
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13851.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50464328
50684651
220324
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1359
23 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
50438175
50500606
62432
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3412
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
50681397
50706241
24845
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
50344544
50347289
2746
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
49925431
49955996
30566
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
50344544
50355232
10689
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11716.s1
11.6
M
Control (matched sibling)
NA
NA
50577245
50580150
2906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11818.s1
14.3
F
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
49445015
49506600
61586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12157.s1
12.8
M
Control (matched sibling)
NA
NA
50271920
50282064
10145
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12438.s1
6.4
M
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12573.s1
11.7
M
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12617.s1
14.6
M
Control (matched sibling)
NA
NA
50344544
50345584
1041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
49533683
49549848
16166
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13005.s1
6.8
F
Control (matched sibling)
NA
NA
49447421
49506600
59180
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG2451
Unknown
Unknown
Unknown
RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
alhazmi_22_ASD_discovery_cases-case6
Unknown
ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,CHKB-CPT1B,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,CHKB-DT,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RNU6-409P,SCO2,PPP6R2,PLXNB2,MLC1,MAPK8IP2
bacchelli_20_ASD_discovery_cases-caseAB133
qPCR
De novo
Simplex
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SBF1,CHKB,CHKB-DT,SHANK3
battaglia_13_DD/ID/ASD_discovery_cases-case67
FISH or qPCR
De novo
Unknown
Unknown
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
bitar_19_ASD_discovery_cases-case82
qPCR
De novo
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
boccuto_12_ASD_discovery_cases-case14878
De novo
SHANK3
brandler_18_ASD_discovery_cases-caseMT_47.3
SNP VCF
De novo
brandler_18_ASD_discovery_cases-caseSJD_65.3
PCR or SNP data validation (SNP VCF)
De novo
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SBF1,CHKB,SHANK3
breckpot_16_ID/catatonia_discovery_cases-case1
De novo
Possibly segregated
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
breckpot_16_ID/catatonia_discovery_cases-case2
Unknown
Unknown
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
bremer_11_ASD_discovery_cases-case11
MLPA, FISH
De novo
NA
NA
ACR,SHANK3
bui_24_ASD_discovery_cases-caseASD080
qPCR
De novo
SHANK3
bui_24_ASD_discovery_cases-caseASD089
qPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,CHKB-DT,MIR3667,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,PLXNB2,MLC1,MAPK8IP2
calderoni_20_ASD_discovery_cases-caseP1
qPCR
De novo
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,CHKB-DT,SHANK3
chan_22_ASD_discovery_cases-case3-0391-000
RT-PCR, qPCR, or ddPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,ADM2,HDAC10,SHANK3,LMF2,KLHDC7B,RPL23AP82,CHKB-CPT1B,ODF3B,DENND6B,SYCE3,CHKB-DT,MAPK11,SBF1,MAPK12,KLHDC7B-DT,RNU6-409P,SCO2,PPP6R2,RABL2B,PLXNB2,MAPK8IP2
chan_22_ASD_discovery_cases-case3-0392-000
RT-PCR, qPCR, or ddPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,RPL5P35,CHKB-DT,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,RABL2B,BRD1,PLXNB2,MLC1,MAPK8IP2
chaves_19_ASD/DD/ID_discovery_cases-case52
Unknown
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SBF1,CHKB,CHKB-DT,SHANK3
chaves_24_ASD/DD/ID_discovery_cases-case52
Unknown
ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,ADM2,SHANK3,LMF2,KLHDC7B,CHKB-CPT1B,ODF3B,SYCE3,CHKB-DT,SBF1,KLHDC7B-DT,SCO2,PPP6R2,MAPK8IP2
chehbani_22_ASD_discovery_cases-case24
Unknown
Simplex
ACR,ARSA,CHKB,CPT1B,SHANK3,CHKB-CPT1B,SYCE3,CHKB-DT,RNU6-409P,MAPK8IP2
chen_17_ASD_discovery_cases-caseU-1459
RT-qPCR
Unknown
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
chen_17_ASD_discovery_cases-caseU-1957
RT-qPCR
Unknown
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH2159
Nimblegen aCGH
De novo
Unknown
Unknown
SHANK3
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case10
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,CHKB-DT,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RNU6-409P,SCO2,PPP6R2,RABL2B,PLXNB2,MLC1,MAPK8IP2
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case13
De novo
ACR,SHANK3
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case14
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,RPL23AP82,CHKB-CPT1B,ODF3B,DENND6B,SYCE3,CHKB-DT,MAPK11,SBF1,MAPK12,KLHDC7B-DT,RNU6-409P,SCO2,PPP6R2,RABL2B,PLXNB2,MAPK8IP2
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case15
FISH
De novo
ACR,SHANK3,RNU6-409P
chorin_25_ASD/ADHD/DD/ID_discovery_cases-case6
De novo
ACR,ARSA,CHKB,CPT1B,SHANK3,RPL23AP82,CHKB-CPT1B,CHKB-DT,RNU6-409P,MAPK8IP2
christian_08_ASD_discovery_cases-AU003404
FISH, microsatellite
inherited
Multiplex
NA
RPL35P8,MIR3667,C22orf34
coe_14_ASD/DD/ID_discovery_cases-case448
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case449
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case450
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case451
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case452
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case453
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case454
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case455
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case456
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case457
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case458
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case459
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case460
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case461
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case462
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case463
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case464
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case465
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case466
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case467
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case468
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case469
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case470
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case471
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case472
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case473
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case474
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case475
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case476
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case477
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case478
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case479
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case480
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case481
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case482
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case483
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case484
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case485
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case486
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case487
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case488
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case489
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case490
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case491
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case492
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case493
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case494
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case495
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case496
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case497
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case498
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case499
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case500
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
coe_14_ASD/DD/ID_discovery_cases-case501
Unknown
Unknown
Unknown
RNU6-409P,SHANK3
digregorio_17_DD/ID_discovery_cases-DECIPHER_296424
qPCR
Paternal (translocation)
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SBF1,CHKB,SHANK3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300608
qPCR
Unknown
PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,MLC1,SBF1,CHKB,SHANK3
engchuan_15_ASD_discovery_cases-case13162_1793
Unknown
C22orf34
engchuan_15_ASD_discovery_cases-case16079_1571066001
De novo
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
engchuan_15_ASD_discovery_cases-case3394_3
Unknown
C22orf34
engchuan_15_ASD_discovery_cases-case3505_3
Unknown
SCO2,ODF3B,KLHDC7B,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B
engchuan_15_ASD_discovery_cases-case5125_3
Unknown
C22orf34
engchuan_15_ASD_discovery_cases-case5519_3
Unknown
C22orf34
engchuan_15_ASD_discovery_cases-case6125_4
Unknown
TTLL8,MOV10L1,MLC1
esmel_vilomara_24_ASD/DD/ID_discovery_cases-case5
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,ADM2,SHANK3,LMF2,KLHDC7B,RPL23AP82,CHKB-CPT1B,ODF3B,DENND6B,SYCE3,CHKB-DT,SBF1,KLHDC7B-DT,RNU6-409P,SCO2,PPP6R2,RABL2B,MAPK8IP2
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264167
De novo
Simplex
Segregated
ACR,SHANK3
gai_11_ASD_discovery_cases-AU1289301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1289302
Inherited
0 genes
gai_11_ASD_replication_cases-AU024003
Inherited
C22orf34
gai_11_ASD_replication_cases-AU069404
Inherited
C22orf34
gai_11_ASD_replication_cases-AU069405
Inherited
C22orf34
gazzellone_14_ASD_discovery_cases-case533-3
Unknown
Unknown
Unknown
C22orf34
girirajan_12_ASD/DD/ID_discovery_cases-case32825
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
glessner_09_ASD_discovery_cases-9742760001
Array SNP
Unknown
Unknown
NA
RNU6-409P,ACR,SHANK3
glessner_09_ASD_discovery_cases-AU02603
Array SNP
Unknown
Unknown
NA
RNU6-409P,ACR,SHANK3
gorker_18_ASD_discovery_cases-case1
Unknown
Unknown
Unknown
CNV gene content N/A
guilherme_14_DD/EP/ASD_discovery_cases-case5
FISH
De novo
Simplex
Segregated
ARSA,SHANK3,ACR,RABL2B
guilmatre_09_ASD_discovery_cases-case47604
QMPSF, aCGH, or FISH
De novo
NA
NA
SHANK3, 28 other genes
guilmatre_09_ASD_discovery_cases-caseSi22
QMPSF, aCGH, or FISH
De novo
NA
NA
SHANK3
hnoonual_17_ASD_discovery_cases-case2950
Unknown
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
husson_20_ASD_discovery_cases-case288
ddPCR, QMPSF, or aCGH
De novo
Simplex
Segregated
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
hu_23_ASD_discovery_cases-case2
qPCR/MLPA
Unknown
ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,RPL5P35,CHKB-DT,MIR3667,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,PLXNB2,MLC1,MAPK8IP2
iourov_12_ASD/ID/EP_discovery_cases-case22
Unknown
Unknown
Unknown
MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,C22orf34,BRD1,MLC1
johannessen_19_ASD/ID/BPD/TS_discovery_cases-case1
CNV validation not reported
Unknown
Unknown
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SBF1,CHKB,CHKB-DT,SHANK3
null
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000790
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000944
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001206
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,SBF1,CHKB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001887
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ARSA,ACR,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004051
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004935
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005376
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-409P,ACR,SHANK3
krumm_13_ASD_discovery_cases-case11716.p1
Paternal
Simplex
Not segregated
CPT1B,CHKB-CPT1B,CHKB
krumm_15_ASD_discovery_cases-case11716.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
CPT1B,CHKB-CPT1B,CHKB
krumm_15_ASD_discovery_cases-case13647.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PANX2,TRABD,MOV10L1,SELENOO,TUBGCP6
kushima_22_SCZ_discovery_cases-caseSCZ2904
qRT-PCR
Unknown
SHANK3,RNU6-409P
leblond_14_ASD_replication_cases-caseAUN_006
De novo
Unknown
Possibly segregated
SHANK3, ACR, RABL2B
leblond_14_ASD_replication_cases-caseAUN_007
De novo
Unknown
Possibly segregated
SHANK3, ACR
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
ALG12
marshall_08_ASD_discovery_cases-MM0102-003
qPCR, qmPCR
Maternal
Multiplex
NA
C22orf34
marshall_08_ASD_discovery_cases-MM0109-003
qPCR, qmPCR
De novo
Simplex
NA
SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530639
Unknown
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,CHKB-DT,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RNU6-409P,ZBED4,SCO2,PPP6R2,RABL2B,BRD1,PLXNB2,MLC1,MAPK8IP2
miyake_23_ASD_discovery_cases-case15680
qPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,IL17REL,ODF3B,DENND6B,PIM3,SYCE3,RPL5P35,CHKB-DT,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,RABL2B,BRD1,PLXNB2,MLC1,MAPK8IP2
moessner_07_ASD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
NA
SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
moreira_14_ASD/EP_discovery_cases-case10
Array SNP
De novo
Unknown
Unknown
PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
moreira_14_ASD/EP_discovery_cases-case9
Array SNP
Unknown
Unknown
Unknown
RNU6-409P,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
mosca_16_DCD_discovery_cases-case121503
qPCR
Maternal
Simplex
Not segregated
SHANK3
munnich_19_ASD_discovery_cases-case19
FISH
De novo
RNU6-409P,ACR,SHANK3
munnich_19_ASD_discovery_cases-case33
FISH
Unknown
RNU6-409P,SHANK3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-258891
Unknown
Unknown
Unknown
MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
nord_11_ASD_discovery_cases-255-1
Paternal
C22orf34
pfundt_16_nonNDD_discovery_cases-case132
ZBED4,ALG12,CRELD2,BRD1
philippe_15_ASD/CDD_discovery_cases-case1
qPCR, MLPA
Unknown (not maternal)
Unknown
RNU6-409P,SHANK3
pinto_10_ASD_discovery_cases-case5125_3
Agilent1M
paternal
NA
NA
C22orf34
pinto_10_ASD_discovery_cases-case5519_3
Agilent1M
paternal
NA
NA
C22orf34
pinto_10_ASD_discovery_cases-case6046_4
qPCR-Bothparents,MLPA
Both parents
Multiplex
Segregated
ACR,MGC70863,SHANK3,RABL2B
pinto_14_ASD_discovery_cases2-case14291_4120
LR-PCR (sequencing coordinates: 49468716-49485255, size 16,540 bp)
De novo
Simplex
Segregated (no siblings)
RNU6-409P,SHANK3
pinto_14_ASD_discovery_cases2-case16079_1571066001
qPCR (mother has a DNA issue; not-paternal by qPCR; de novo DEL by plotting-visual inspection)
De novo
Simplex
Likely segregated (2 unaffected siblings, not tested)
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
poultney_13_ASD_discovery_cases-case04HI2885A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
IL17REL
prasad_12_ASD_discovery_cases-case168999
Unknown
Unknown
Unknown
PPP6R2
prasad_12_ASD_discovery_cases-case46486
Unknown
Unknown
Unknown
LMF2,NCAPH2,C22orf41,MAPK8IP2,ARSA,RPL23AP82,CHKB-CPT1B,ODF3B,CPT1B,RABL2B,ACR,TYMP,MIOX,SCO2,KLHDC7B,CHKB,SHANK3,ADM2,LOC100144603
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase27
BACs aCGH or FISH
De novo
Unknown
Unknown
RNU6-409P,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
rosenfeld_10_ASD_discovery_cases-case18388
FISH
De novo
Unknown
Unknown
SHANK3,ACR
rosenfeld_10_ASD_discovery_cases-case6385
FISH
Unknown
Unknown
Unknown
PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG001269
Unknown
Simplex
ACR,SHANK3,RNU6-409P
sanders_11_ASD_discovery_cases-11066.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
PPP6R2
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Segregated
C22orf34
sanders_11_ASD_discovery_cases-11101.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C22orf34
sanders_11_ASD_discovery_cases-11239.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-11257.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-11277.p1
Both parents
Simplex (quad-proband matched)
Segregated
PPP6R2
sanders_11_ASD_discovery_cases-11322.p1
Both parents
Simplex (trio)
NA
PPP6R2
sanders_11_ASD_discovery_cases-11545.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-11572.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-11716.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CPT1B,CHKB-CPT1B,CHKB
sanders_11_ASD_discovery_cases-11878.p1
Both parents
Simplex (trio)
NA
PPP6R2
sanders_11_ASD_discovery_cases-11914.p1
Both parents
Simplex (trio)
NA
PPP6R2
sanders_11_ASD_discovery_cases-12073.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C22orf34
sanders_11_ASD_discovery_cases-12255.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-12339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12366.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-12376.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-12483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-12671.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPP6R2
sanders_11_ASD_discovery_cases-12820.p1
Both parents
Simplex (trio)
NA
PPP6R2
sanders_11_ASD_discovery_cases-12960.p1
Both parents
Simplex (trio)
NA
PPP6R2
sanders_11_ASD_discovery_cases-13065.p1
Both parents
Simplex (trio)
NA
PPP6R2
sandoval_talamantes_23_ASD_discovery_cases-caseAUT223
Unknown
ACR,SHANK3,RPL23AP82,RNU6-409P,RABL2B
sandoval_talamantes_23_ASD_discovery_cases-caseAUT90
Unknown
ACR,SHANK3,RNU6-409P
shin_15_ASD/DD/ID_discovery_cases-case15
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH10
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
soorya_13_ASD/ID_discovery_cases-SH14
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH18
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH20
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
soorya_13_ASD/ID_discovery_cases-SH26
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH27
De novo
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
soorya_13_ASD/ID_discovery_cases-SH8
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
szatmari_07_ASD_discovery_cases-NAAR053-F1-03C15328
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,C22orf34,BRD1,MLC1
szatmari_07_ASD_discovery_cases-NAAR072-F11-200501053
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR3667,RN7SKP252,PIM3,MIR6821,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,C22orf34,BRD1,MLC1
tammimies_15_ASD_discovery_cases-case3-0391-000
De novo
Unknown
Possibly segregated
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SBF1,CHKB,SHANK3
tammimies_15_ASD_discovery_cases-case3-0392-000
De novo
Unknown
Possibly segregated
RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
van_der_zwaag_09_ASD_discovery_cases-subject140-003
qPCR
De novo
NA
NA
ARSA
vucurovic_12_BPD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Likely segregated
vucurovic_12_BPD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Likely segregated
RNU6-409P,SHANK3
vucurovic_12_BPD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Likely segregated
ACR,RPL23AP82,RABL2B,SHANK3
wang_10_ASD_discovery_cases-AC0058
Unknown
NA
NA
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,MLC1,SBF1,CHKB,SHANK3
xu_16_ASD/DD/ID_discovery_cases-case37
Unknown (not maternal)
KLHDC7B,CHKB-DT,RNU6-409P,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
xu_20_DD/ID_discovery_cases-case15
De novo
RNU6-409P,ACR,RPL23AP82,SHANK3
xu_20_DD/ID_discovery_cases-case19
De novo
SHANK3
xu_20_DD/ID_discovery_cases-case19
De novo
SHANK3
xu_20_DD/ID_discovery_cases-case20
Unknown
RNU6-409P,ACR,RPL23AP82,SHANK3
xu_20_DD/ID_discovery_cases-case21
Unknown
MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case23
Unknown
SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case26
Unknown
RNU6-409P,SHANK3
xu_20_DD/ID_discovery_cases-case27
Unknown
SHANK3
xu_20_DD/ID_discovery_cases-case29
Unknown
PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case9
Unknown
RNU6-409P,ACR,RPL23AP82,SHANK3
yingjun_17_ASD_discovery_cases-case4229
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,MLC1,SBF1,CHKB,SHANK3
yin_16_ASD_discovery_cases-case633
Unknown
Unknown
Unknown
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
yin_16_ASD_discovery_cases-case634
Unknown
Unknown
Unknown
RNU6-409P,ACR,RPL23AP82,RABL2B,SHANK3
yuan_23_ASD_discovery_cases-qma01661s000
De novo
ACR,SHANK3
yuen_16_ASD_discovery_cases-sample3-0392-000
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
RN7SKP252,RPL5P35,ZBED4,ALG12,C22orf34,BRD1
yuen_17_ASD_discovery_cases-case2-0109-003
Affymetrix 6.0
De novo
Simplex
Segregated
CHKB-DT,RNU6-409P,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CHKB,SHANK3
yuen_17_ASD_discovery_cases-case2-0242-003
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
yuen_17_ASD_discovery_cases-case2-0242-004
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
yuen_17_ASD_discovery_cases-case2-0242-005
Affymetrix 6.0
Possibly paternal [unbalanced translocation 46,XY,der(22)t(1;22)(q44;q13.33)pat]
Multiplex
Possibly segregated
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
yuen_17_ASD_discovery_cases-case3-0391-000
Affymetrix CytoScan HD
De novo
Simplex
Segregated
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SBF1,CHKB,SHANK3
yuen_17_ASD_discovery_cases-caseAU2333302
Not available
De novo
Simplex
Segregated
PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,MLC1,SBF1,CHKB,SHANK3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0391-000
RT-qPCR or WGS
De novo
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,SBF1,CHKB,CHKB-DT,SHANK3
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB239915_1007841983
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlB435341_1007840517
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlB693312_1007841026
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlB849884_1007854315
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_900140_900140
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_900597_900597
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
Unknown
PIM3,IL17REL,TTLL8
engchuan_15_ASD_discovery_controls-controlHABC_901236_901236
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_902681_902681
Unknown
C22orf34
engchuan_15_ASD_discovery_controls-controlHABC_902883_902883
Unknown
C22orf34
glessner_09_ASD_discovery_controls-disccontrol7
Unknown
Unknown
NA
RNU6-409P,ACR,SHANK3
glessner_09_ASD_replication_controls-repcontrol3
Unknown
Unknown
NA
RNU6-409P,ACR,SHANK3
krumm_13_ASD_discovery_controls-control11716.s1
Paternal
Simplex
CPT1B,CHKB-CPT1B,CHKB
krumm_15_ASD_discovery_controls-control11716.s1
Illumina 1MDuo
Paternal
CPT1B,CHKB-CPT1B,CHKB
krumm_15_ASD_discovery_controls-control13647.s1
Omni2.5-4v1
Maternal
PANX2,TRABD,MOV10L1,SELENOO,TUBGCP6
krumm_15_ASD_discovery_controls-control13851.s1
Omni2.5-4v1
Maternal
ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SBF1,CHKB,SHANK3
kushima_18_ASD/SCZ_discovery_controls-controlCON1359
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
ADM2,MIOX,PPP6R2,SBF1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON3412
qRT-PCR
Unknown
SHANK3,RNU6-409P
sanders_11_ASD_discovery_controls-11029.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11073.s1
Unknown
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11098.s1
Unknown
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11372.s1
Both parents
Simplex (quad)
NA
CRELD2
sanders_11_ASD_discovery_controls-11374.s1
Unknown
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11410.s1
Maternal
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11450.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11568.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11712.s1
Maternal
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11716.s1
Paternal
Simplex (quad)
NA
CPT1B,CHKB-CPT1B,CHKB
sanders_11_ASD_discovery_controls-11818.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-11935.s1
Maternal
Simplex (quad)
NA
C22orf34
sanders_11_ASD_discovery_controls-12157.s1
Unknown
Simplex (quad)
NA
PLXNB2
sanders_11_ASD_discovery_controls-12255.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-12438.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-12573.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-12617.s1
Both parents
Simplex (quad)
NA
PPP6R2
sanders_11_ASD_discovery_controls-12736.s1
Maternal
Simplex (quad)
NA
MIR3667,C22orf34
sanders_11_ASD_discovery_controls-13005.s1
Maternal
Simplex (quad)
NA
C22orf34
No Animal Model Data Available