17p13.3CNV Type: Deletion-Duplication
Largest CNV size: 1100000 bp
Statistics Box:
Number of Reports: 51
Number of Reports: 51
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Molecular cloning and analysis of breakpoints on ring chromosome 17 in a patient with autism.
Deletion
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to 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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Duplication
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic
Duplication
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahmad_23_ASD/ADHD/DD_discovery_cases
Affected individuals with 6q26 CNVs affecting the PRKN gene assessed by the University of Rochester Medical Center (Rochester, NY, USA) between 2008 and 2011.
8
Five of the eight affected individuals presented with developmental delay; additional phenotypes observed in this cohort were seizures (n=2), autism spectrum disorder (n=1), and ADHD (n=1).
Range, 1 day-28 yrs.
37.5% Male
2036626
0
1
1
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
444338
0
1
1
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
651947
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
4000
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
1100000
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
115
0
1
1
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
84000
0
1
1
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
1100000
0
1
1
bruno_10_ASD/DD/LD/MR_discovery_cases
Clinical samples obtained from Melbourne, Australia (n=349); Stockholm, Sweden (n=1289); Groningen, The Netherlands (n=2107); Antwerp, Belgium (n=100); Atlanta, USA (n=2000); & Nijmegen, the Netherlands (n=1833)
7678
Patients referred with unexplained learning difficulties (LD) and/or autism (ASD), with or without other congenital abnormalities.
NA
NA
2090000
8
6
14
capra_12_ASD_discovery_cases
Proband with PDD-NOS from a family with behavioral problems and other psychiatric conditions
1
PDD-NOS , moderate mental retardation, and mild dysmorphic features
8 yrs.
Male
329500
0
1
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
11219
0
1
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
683000
1
1
2
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
2490000
44
25
69
curry_13_DD/ID/ASD_discovery_cases
Individuals from 21 families containing 17p13.3 duplications with primary clinical diagnosis (out of 34 individuals), ascertained personally or by query of Signature Genomics, GeneDX, and DECIPHER databases
30
Common diagnoses/phenotypic feaures included developmental delay/intellectual disability, ASD, MCA, and dysmorphic features
Age range, fetus-adult
19 Male, 10 Female, 1 N/A
3400000
0
29
29
dharmadhikari_12_ASD/DD/ID_discovery_cases
Unrelated individuals referred for clinical chromosomal microarray testing to the Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
17035
Diagnosis of case cohort: developmental delay/intellectual disability (DD/ID), ~28.0%; ASD, ~9.2%; epilepsy, ~5.5%; ADHD, ~2.5%. 17.0% of cases with no indications.
NA
NA
389691
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1750997
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
683368
8
8
16
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
33318
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
65468
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
7962
1
0
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
1580000
21
22
43
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
665485
0
2
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
211000
0
1
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
197384
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
3237850
15
21
36
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
22201
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
649532
2
3
5
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
94685
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
768000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
389000
1
0
1
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
3010282
24
20
44
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
178736
0
2
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
31207
1
0
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
1850000
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
90116
2
0
2
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
156967
0
2
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)
196386
0
4
4
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
447955
2
6
8
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
534000
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
238041
1
0
1
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
155000
0
1
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
885528
0
2
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
58550
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
92320
13
17
30
spataro_23_ASD/DD/ID_discovery_cases
Individuals from the Clinical Genetics Unit at Parc Tauli Hospital Universitari (Sabadell, Spain) between March 2019 and December 2021.
398
Cases had a clinical diagnosis of autism spectrum disorder (ASD) or global developmental delay/intellectual disability (DD/ID).
Average age, 14.5 +/- 11.2 yrs.
62.06% Male
14809
1
0
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
51259
0
2
2
trakadis_21_NDD/NPD_discovery_cases
Individuals referred to the adult neuropsychiatric genetics clinic at the McGill University Health Centre (MUHC) between January 2017 and December 2019.
34
All cases had developmental or neuropsychiatric disorders, including global developmental delay (GDD), ID, ASD, psychiatric and behavioral disorders, and one of the following: (i) positive family history for ID or psychiatric/behavioral disorders, (ii) congenital malformations or dysmorphisms, (iii) unusual imaging or laboratory findings, and (iv) atypical presentation of a psychiatric disorder; all formal diagnoses followed DSM-5 diagnostic criteria.
Age: 16 yrs. and over
N/A
244606
0
1
1
vazna_08_ASD_discovery_cases
Autistic female with mosaic ring chromosome 17 (83 out of 100 mitoses) and chromosome 17 monosomy (12 out of 100 mitoses), previously described in Havlovicova et al. 2007 report
1
Autism, moderate mental retardation, epilepsy, and neurofibromatosis. Diagnosis of autism confirmed by CARS and ADI-R.
NA
Female
1900000
2
0
2
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
22265
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
130570
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
682691
1
2
3
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
566912
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bruno_10_ASD/DD/LD/MR_discovery_controls
Parental samples used as healthy controls
1171
Control
NA
NA
NA
NA
NA
NA
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
405000
0
2
2
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
2490000
0
2
2
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
826665
14
12
26
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1580000
1
0
1
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
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
630411
2
2
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
630411
0
5
5
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
467087
0
2
2
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
5
2
7
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.
18646
1
0
1
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)
73655
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
447955
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.
319423
13
14
27
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
682691
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahmad_23_ASD/ADHD/DD_discovery_cases
United States
aCGH
Agilent 4x44K v2.0
NA
BlueFuse Multi v.2.5
FISH
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
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
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
bruno_10_ASD/DD/LD/MR_discovery_cases
The Netherlands (n=3940). USA (n=2000), Sweden (n=1289), Australia (n=349), Belgium (n=100)
aCGH, array SNP, solid phase hybridization
Affymetrix 250K Nsp, Affymetrix 6.0, Illumina 370K, Illumina HumanCytoNSP-12 300K, BACs aCGH, Agilent 244K, Agilent 180K, Agilent 105K, custom 44K oligo array
aCGH, FISH, MLPA
capra_12_ASD_discovery_cases
Caucasian
aCGH
Agilent Human Genome CGH Microarray 400K
ADM-2
Agilent Genomic Workbench Lite Edition 6.5.0.18
FISH
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
curry_13_DD/ID/ASD_discovery_cases
80% Caucasian
aCGH, FISH
Agilent SignatureChip OS (105K or 135K), 244K, 660K-Quad, or 105K; Oxford Gene Technology (OGT) 105K; Genome Dx 105K; Signature Genomics Laboratories BAC; Genzyme Clarisure; UNC SGLSelect 105K
None
dharmadhikari_12_ASD/DD/ID_discovery_cases
NA
aCGH
CMA V8.0 and V8.1 OLIGO 180K microarrays
FISH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
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
qPCR
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
spataro_23_ASD/DD/ID_discovery_cases
Spain
Targeted gene sequencing
NNDTauliPanel/Illumina MiSeq
NA
XHMM, ExomeDepth
MLPA or aCGH
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
trakadis_21_NDD/NPD_discovery_cases
Canada
Targeted gene sequencing
GeneDx ID/ASD panel
N/A
N/A
None
vazna_08_ASD_discovery_cases
Czech Republic
aCGH, long-range PCR
Nimblegen
SignalMap
long-range PCR, microsatellite analysis
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_15_DD_discovery_cases
N/A
aCGH
Agilent 4x180K, 8x60K arrays
FISH, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bruno_10_ASD/DD/LD/MR_discovery_controls
NA
aCGH, array SNP
Agilent 105K, Affymetrix 250K Nsp, Affymetrix 6.0
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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)
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahmad_23_ASD/ADHD/DD_discovery_cases-case7
2 yrs.
M
Developmental delay
Developmental delay
1065678
3102303
2036626
GRCh38
Duplication
Yes
akter_23_ASD/ADHD/DD/ID_discovery_cases-case63
9.5 yrs.
M
Behavioural disability, low memory, low level attention to study. Growth parameters: height 1.4 m, weight 42 kg, head circumference 56 cm. Family history: born to non-consanguineous parents.
1498319
1942656
444338
GRCh38
Duplication
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0257
N/A
N/A
Epilepsy
Speech delay, epilepsy, microlissencephaly, dysmorphic features, brachydactyly with abnormal palmar creases (Miller-Dieker Syndrome). Non-consanguineous parents.
2274375
2926321
651947
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case617
24 yrs.
F
Intellectual disability and epilepsy
Intellectual disability, epilepsy, loss of motor function, lissencephaly type I
2669070
2673236
4167
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case55
3 yrs. 10 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
1332489
2436296
1103808
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseP6Q4Z_01
N/A
M
ASD
Case from REACH cohort
2236810
2236925
116
GRCh38
Duplication
No
breckpot_16_ID/catatonia_discovery_cases-case8
N/A (adult)
M
Intellectual disability and catatonia
Case met DSM-5 criteria for catatonia (symptoms included catalepsy, stupor, mutism, negativism, grimacing, rigidity, perseveration, automatic obedience, mitgehen, autonomous symptoms). Behavioral/psychiatric evaluation: unspecified nonorganic psychosis. Epilepsy/seizures: post-electroconvulsive therapy seizures. Dysmorphic features: long face, small face, big ears, facial hyptonia, drooling. Additional medical history: none.
Mild intellectual disability (FSIQ 72, performance IQ 66, verbal IQ 82)
1589114
1672890
83777
GRCh38
Duplication
No
bremer_11_ASD_discovery_cases-case7
3
M
ASD
Non-syndromic ASD, sporadic case
IQ>70
436763
1521659
1084897
GRCh38
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case1
21 yrs.
M
Mental retardation
Postnatal growth retardation. Dysmorphic features & malformations: bitemporal narrowing of the forehead, high anterior hairline, short & down-slanting palpebral fissures, ptosis, laterally extended etebrows, broad nasal tip, small ears with overfolded helix, maxillary prominence, microretrognathia, thick upper lip vermillion, thick and everted lower lip vermillion, cryptorchidism, hypospadia. Brain MRI: no lissencephaly, wide perivascular spaces, white matter abnormalities, low cerebellar tonsils.
Mild mental retardation (MR)
1135022
2202835
1070000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case10
6.5 yrs.
M
Autism
Motor function delay, no speech delay. Feeding difficulties. Axial hypotonia. Hand flapping. Recurrent infections. Facial features: triangular face with malar flatness; normal forehead, eyes, and ears; full tip nose; prominent cupid bow; pointed chin. Sandal gap. Brain MRI not performed.
Normal cognitive development
738991
2813518
2070000
Unknown
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case11
14 yrs.
M
Developmental delay
Developmental milestones: motor function delay, speech delay. Autistic traits. Facial tic.
Mild cognitive delay.
936249
1573187
640000
Unknown
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case12
3 yrs.
F
Autism
Motor function delay, pronounced speech delay. Facial features: Normal face, eyes, & ears; narrow forehead; broad nose; prominent cupid bow & high palate; pointed chin. Fetal finger pads. Overgrowth (75-90th percentile). Normal brain MRI. Family history: healthy mother and healthy sister with 17p13.3 microduplication.
Global cognitive delay
1288474
1558459
270000
Unknown
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case13
NA
NA
NA
NA
NA
1105258
1193712
88000
Unknown
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case2
13 yrs.
F
Mental retardation
Postnatal growth retardation. Dysmorphic features & malformations: frontal bossing, infraorbital folds, laterally extended eyebrows, broad nasal tip with anteverted nares, maxillary prominence, retrognathia, prominent upper lip with thin vermillion, 5th finger clinodactyly, broad distal phalanges, narrow fingernails, submucous cleft palate, persistent ductus arteriosus. Brain MRI: no lissencephaly, white matter abnormalities, low cerebellar tonsils.
Moderate mental retardation (MR)
514
2065664
2070000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case3
2 yrs.
M
Developmental delay
Postnatal growth retardation. Neonatal feeding difficulties. Muscle hypotonia. Dysmorphic features & malformations: broad face, down-slanting palpebral fissures, laterally extended eyebrows, broad nasal tip & base, low set cupped ears, micrognathia, thick and everted upper lip vermillion, iris coloboma.
Developmental delay
1067074
1394633
330000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case4
9 yrs.
F
Mental retardation
Speech delay. Behavioral problems: echolalia. Postnatal growth retardation. Neonatal feeding difficulties. Dysmorphic features: midface retrusion, broad forehead, high anterior hairline, narrow palpebral fissures, laterally extended eyebrows, low insertion of columella, Darwinian tubercles, maxillary prominence. Brain MRI: no lissencephaly, wide perivascular spaces, white matter hyperintensities.
Mild mental retardation (MR)
842389
2257857
1420000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case5
17 yrs.
F
Learning difficulties
Problems with concentration & poor coordination. Dysmorphic features: round face, broad nose, mild shortening of 2nd & 5th fingers, medially deviated great toes.
Mild learning difficulties
1136270
2168155
1030000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case6
4.5 yrs.
M
Developmental delay
Postnatal growth retardation. Recurrent infections. Dysmorphic features: infraorbital fold, broad nasal tip, addition al crus of antihelix of the ears, wide mouth with thick & everted lower lip vermillion, 5th finger clinodactyly. Family history: younger sibling with 17p13.3 deletion has postnatal growth retardation, developmental delay, abnormal white matter signals in brain MRI, & dysmorphic features; mother has speech delay & mild dysmorphism.
Developmental delay
1254527
2164139
910000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case7
50 yrs.
F
Mental retardation
Intrauterine & postnatal growth retardation. Dysmorphic features: low set ears, thick upper lip vermillion, thick and everted lower lip vermillion, brachydactyly, 5th finger clinodactyly.
Mild mental retardation (MR)
18901
1820903
1800000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case8
3 yrs.
F
Mental retardation
Postnatal growth retardation. Feeding problems. Recurrent infections. Dysmorphic features & malformations: triangular face, broad forehead, frontal bossing, large eyes, eyelid coloboma, broad nasal base, maxillary prominence, micrognathia, prominent upper lip with thin vermillion, 5th finger clinodactyly, long slender fingers, submucous cleft palate, persistent ductus arteriosus, embryotoxon. Brain MRI: no lissencephaly, wide perivascular spaces, white matter abnormalities, hypoplastic adenohypophysis & olfactory tracts.
Moderate mental retardation (MR)
2124215
3321560
1200000
Unknown
Duplication
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case8
3 yrs.
F
Mental retardation
Postnatal growth retardation. Feeding problems. Recurrent infections. Dysmorphic features & malformations: triangular face, broad forehead, frontal bossing, large eyes, eyelid coloboma, broad nasal base, maxillary prominence, micrognathia, prominent upper lip with thin vermillion, 5th finger clinodactyly, long slender fingers, submucous cleft palate, persistent ductus arteriosus, embryotoxon. Brain MRI: no lissencephaly, wide perivascular spaces, white matter abnormalities, hypoplastic adenohypophysis & olfactory tracts.
Moderate mental retardation (MR)
29169
2123816
2090000
Unknown
Deletion
Yes
bruno_10_ASD/DD/LD/MR_discovery_cases-case9
2 yrs.
M
Autism
Delay in fine motor skills, speech delay, hyperactivity. Facial features: triangular face; broad forehead; normal eyes & nose; prominent ears and cupid bow; pointed chin. Bilateral groove between toe one & two. Brain MRI not performed.
Normal at 2 yrs.
294421
1371895
1080000
Unknown
Duplication
Yes
capra_12_ASD_discovery_cases-case1
8 yrs.
M
PDD-NOS
Birth/neonatal history: gestational age of 37 weeks (born by C-section after pregnancy complicated by gestosis); birth weight of 3350 g; birth length and head circumference NA; no feeding difficulties. Developmental milestones: motor delay and mild lower limb hypotonia reported at 8 months of age; walking at 18 months of age; first words at 2 years of age. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: delay in motor function; muscle hypotonia. Behavioral/psychiatric evaluation: impairments in social interaction and communication, motor stereotypies, persistent behaviors, attention deficit. Brain imaging: corpus callosum hypoplasia and mild cerebellar hypoplasia detected by brain MRI. Dysmorphic features: thick linearized eyebrows, myopia with upslanting eyes, squared upturned tip of the nose, pointed chin, large and low-set ears, short stubby hands with low-set thubs, laterally set 5th toes on both feet. Growth parameters: weight of 22.8 kg (50th %ile); height of 123 cm (75th %ile); head circumference of 52.5 cm (25th-50th %ile). Family history: mother with antisocial behavior, bipolar disorder, and alcohol addiction; father with drug addiction; one healthy sister and another sister reported to have behavioral problems and aggressiveness; maternal grandmother with depression.
Moderate mental retardation (MR): General Developmental Quotient of 46 (assessed according to Griffiths Mental Development Scale).
1218941
1548457
329517
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
699260
710479
11220
GRCh38
Duplication
No
chen_17_ASD_discovery_cases-caseU-1578
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 6 (past score 14); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 8); Qualitative abnormalities in nonverbal communication, current score 2 (past score 2); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 6); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 41; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 18. Epilepsy: no history of epilepsy.
Performance IQ 101, Verbal IQ 105, Full-scale IQ 104
930550
1613186
682637
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-212
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 n/a (past score n/a); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score n/a (past score n/a); Restricted, repetitive, and stereotyped patterns of behaviour, current score n/a (past score n/a); Abnormality of development evident at or before 36 months, past score n/a. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score n/a; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score n/a. Epilepsy: n/a.
Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
322892
674650
351759
GRCh38
Duplication
Yes
coe_14_ASD/DD/ID_discovery_cases-case202
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case203
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case204
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case205
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case206
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case207
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case208
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case209
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case210
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case211
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case212
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case213
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case214
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case215
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case216
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case217
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case218
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case219
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case220
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case221
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case222
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case223
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
200209
2689956
2489748
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case224
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case225
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case226
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case227
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case228
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case229
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case230
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case231
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case232
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case233
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case234
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case235
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case236
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case237
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case238
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case239
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case240
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case241
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case242
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case243
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case244
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case245
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case246
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case247
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case248
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case249
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case250
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case251
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case252
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case253
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case254
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case255
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case256
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case257
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case258
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case259
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case260
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case261
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case262
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case263
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case264
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case265
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case266
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case267
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case268
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case269
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case270
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient1
8 yrs.
M
ASD and DD/ID
Presentation: developmental delay, hypotonia. Developmental and neurological features: ASD, hypotonia, poor balance. Brain imaging abnormalities: none reported. Rare phenotypes and other health problems: Marfanoid habitus, flat feet, leg cramps, constipation. Growth parameters: birth weight 90th %ile; weight 75th %ile, height 90th %ile, OFC 75th %ile. Ethnicity: Puerto Rican.
Mild ID
597076
1713769
1116694
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient11a1
Prenatal
M
MCA
Presentation: prenatal diagnosis of single umbilical artery, hydronephrosis. Rare phenotypes and other health problems: multicystic dysplastic kidney (unilateral). Ethnicity: Caucasian. 17p13.3 duplication inherited from mother with learning disabilities (curry_13_DD/ID/ASD_discovery_cases-patient11a2).
203143
2651154
2448012
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient11a2
Adult
F
Learning disabilities
Presentation: normal. Developmental and neurological features: none reported. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: severe facial gestalt, long face, prominent jaw, pointed chin. Ethnicity: Caucasian. Case displayed mmosaicism for 17p13.3 duplication (72%). 17p13.3 duplication transmitted to child with MCA (curry_13_DD/ID/ASD_discovery_cases-patient11a1).
Learning disabilties
N/A
N/A
N/A
NCBI36
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient12
28 yrs.
F
Learning disabilties
Presentation: learning disabilities, Asperger syndrome. Developmental and neurological features: seizures, ADD, mild spasticity, ataxia, depression. Rare phenotypes and other health problems: depression, hypertension, scoliosis with rods, incontinence, hydronephrosis, breast reduction, abdominoplasty, jaw reconstruction, Achilles lengthening. Dysmorphic facial features: severe facial gestalt, facial hypotonia, long face, prominent jaw, pointed chin, small mouth. Growth parameters: birth weight N/A; weight75th-90th %ile, height 25th %ile, OFC 50th-75th %ile. Ethnicity: Caucasian.
Learning disabilties
298300
3655100
3356801
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient13a1
13 mos.
M
DD/ID
Presentation: failure-to-thrive, developmental delay, gastroesophageal reflux. Developmental and neurological features: none reported. Brain imaging abnormalities: thin corpus callosum consistent with mild partial agenesis, ventriculomegaly, Dandy-Walker malformation, cerebellar vermis hypoplasia, mega-cisterna magna associated with basi-occipital skull anomalies. Rare phenotypes and other health problems: failure-to-thrive, gastroesophageal reflux, gastrostomy tube, eczema. Dysmorphic facial features: facial gestalt, facial hypotonia, long face, prominent jaw, pointed chin, small mouth. Growth parameters: birth weight reported as normal; weight N/A, height <5th %ile, OFC 25th %ile. Ethnicity: African/Native American. 17p13.3 duplication inherited from fahter with learning disabilities (curry_13_DD/ID/ASD_discovery_cases-patient13a2).
Mild ID
369281
3146316
2777036
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient13a2
Adult
M
Learning disabilties
Presentation: learning disabilities. Developmental and neurological features: none reported. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: severe facial gestalt, long face, pointed chin, small mouth. Ethnicity: African American. 17p13.3 duplication transmitted to child with mild ID (curry_13_DD/ID/ASD_discovery_cases-patient13a1).
Learning disabilties
369281
3146316
2777036
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient14
6 yrs.
F
ASD and DD/ID
Presentation: developmental delay, ASD. Developmental and neurological features: ASD, hypotonia, poor balance, temper tantrums. Brain imaging abnormalities: cerebellar vermis hypoplasia, mega-cisterna magna associated with basi-occipital skull anomalies. Rare phenotypes and other health problems: failure-to-thrive, gastroesophageal reflux, later overweight, precocious puberty. Dysmorphic facial features: facial gestalt, facial hypotonia, long face, pointed chin, small mouth, midface hypoplasia. Growth parameters: birth weight 50th %ile; weight >97th %ile, height 90th %ile, OFC 25th-50th %ile. Ethnicity: Caucasian/Asian.
Mild ID
421964
2427511
2005548
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient15
17 yrs.
F
DD/ID
Presentation: developmental delay. Developmental and neurological features: hypotonia, poor balance. Rare phenotypes and other health problems: hearing loss, serial urinary tract infections, ureteral reimplantation, sleep apnea, scoliosis, recurrent bilateral otitis media. Dysmorphic facial features: severe facial gestalt, long face, prominent jaw, pointed chin, small mouth. Growth parameters: birth weight N/A; weight 50th %ile, heigh 50th %ile, OFC 97th %ile. Ethnicity: Caucasian.
Mild ID
950505
2917010
1966506
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient16
2 yrs.
M
ASD and DD/ID
Presentation: developmental delay, ASD. Developmental and neurological features: ASD, hypotonia. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: facial hypotonia, round face, pointed chin, short nose, smooth philtrum. Growth parameters: birth weight reported as large; weight N/A, height N/A, OFC N/A. Ethnicity: Caucasian.
Mild ID
1160617
2182289
1021673
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient17a1
4 mos.
M
ID
Presentation: failure-to-thrive, hiatal hernia. Developmental and neurological features: hypotonia. Brain imaging abnormalities: thin corpus callosum consistent with mild partial agenesis, ventriculomegaly, probable or mild cerebellar vermis hypoplasia, cerebellar tonsilar ectopia with Chiari 1 malformation, subtle basi-occipital changes. Rare phenotypes and other health problems: Marfanoid habitus, hiatal hernia, umbilical hernia, Morgagni hernia, ventricular septal defect, hemivertebrae, gastroesophageal reflux, GT, recurrent bilateral otitis media. Growth parameters: birth weight >90th %ile; weight 50th %ile, height 14th %ile, OFC 25th %ile. Ethnicity: Caucasian.
Mild ID
1385270
2333752
948483
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient18
15 yrs.
M
ADHD and ID
Presentation: failure-to-thrive. Developmental and neurological features: ADHD. Brain imaging abnormalities: atrophy of cerebral hemispheres, ventriculomegaly. Rare phenotypes and other health problems: failure-to-thrive. Dysmorphic facial features: facial hypotonia, long face, malar hypoplasia. Growth parameters: birth weight 25th %ile; weight <5th %ile, height <5th %ile, OFC <5th %ile. Ethnicity: Caucasian.
Moderate ID
2113406
2966895
853490
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient2
4 yrs.
M
ASD and DD/ID
Presentation: developmental delay, ASD. Developmental and neurological features: ASD, hypotonia. Brain imaging abnormalities: short corpus callosum consistent with mild partial agenesis, subtle basi-occipital changes. Rare phenotypes and other health problems: recurrent bilateral otitis media. Dysmorphic facial features: mild facial hypotonia, prominent jaw, pointed chin. Growth parameters: birth weight 90th %ile; weight 95th %ile, height 50th %ile, OFC 50th %ile. Ethnicity: Caucasian.
Mild ID
990159
1728554
738396
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient20a1
4 yrs.
F
DD/ID
Presentation: developmental delay. Developmental and neurological features: hypotonia, temper tantrums. Brain imaging abnormalities: ventriculomegaly. Rare phenotypes and other health problems: recurrent bilateral otitis media. Dysmorphic facial features: mild facial gestalt, facial hypotonia, long face, malar hypoplasia, pointed chin, small mouth. Growth parameters: birth weight >97th %ile; weight 75th %ile, height 50th %ile, OFC 50th %ile. Ethnicity: Caucasian. Sibling with DD/ID and seizures (curry_13_DD/ID/ASD_discovery_cases-patient20a2), father with learning disabilities (curry_13_DD/ID/ASD_discovery_cases-patient20a3); both carry identical 17p13.3 duplication.
Mild ID
2399065
2735973
336909
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient20a2
2 yrs.
F
DD/ID and epilepsy
Presentation: developmental delay. Developmental and neurological features: seizures, hypotonia, temper tantrums. Rare phenotypes and other health problems: failure-to-thrive. Dysmorphic facial features: mild facial gestalt, facial hypotonia, long face, malar hypoplasia, pointed chin, small mouth. Growth parameters: birth weight 10th %ile; weight <5th %ile, height <5th %ile, OFC 10th %ile. Ethnicity: Caucasian. Sibling with DD/ID (curry_13_DD/ID/ASD_discovery_cases-patient20a1), father with learning disabilities (curry_13_DD/ID/ASD_discovery_cases-patient20a3); both carry identical 17p13.3 duplication.
Mild ID
2399065
2735973
336909
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient20a3
Adult
M
Learning disabilties
Presentation: learning disabilities. Developmental and neurological features: none reported. Rare phenotypes and other health problems: none reported. Ethnicity: Caucasian. 17p13.3 duplication transmitted to two children with DD/ID (curry_13_DD/ID/ASD_discovery_cases-patient20a1 and curry_13_DD/ID/ASD_discovery_cases-patient20a2)
Learning disabilties
2399065
2735973
336909
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient21a1
Fetus
N/A
MCA
Presentation: prenatal diagnosis by ventriculomegaly, endocardial fibroelastosis, choroid plexus cyst. Rare phenotypes and other health problems: endocardial fibroelastosis. Ethnicity: Caucasian. Fetus terminated. 17p13.3 and 17p13.2 duplications inherited from mother with dysmorphic facial features (curry_13_DD/ID/ASD_discovery_cases-patient21a2).
2410900
2710878
299979
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient21a2
27 yrs.
F
Dysmorphic features
Presentation: normal. Developmental and neurological features: none reported. Brain imaging abnormalities: none reported. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: facial gestalt, long face, prominent jaw, pointed chin, small mouth. Ethnicity: Caucasian. 17p13.3 and 17p13.2 duplications inherited from phenotypically normal mother.
Normal
2410900
2710878
299979
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient3a1
3 yrs.
M
DD/ID
Presentation: developmental delay, cleft lip and palate. Developmental and neurological features: hypotonia. Brain imaging abnormalities: cerebellar vermis hypoplasia, mega-cisterna magna associated with basi-occipital skull anomalies. Rare phenotypes and other health problems: pectus excavatum, hydrocele, pneumonia, recurrent bilateral otitis media. Dysmorphic facial features: mild facial hypotonia, somehwat long face, prominent jaw, pointed chin, cleft lip and palate, hypertelorism. Growth parameters: birth weight 75th %ile; weight 90th %ile, height 90th %ile, OFC N/A. Ethnicity: Caucasian. 17p13.3 duplication inherited from mother with cleft lip and palate (curry_13_DD/ID/ASD_discovery_cases-patient3a2).
Mild ID
1044993
1593686
548694
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient3a2
Adult
F
Dysmorphic features
Presentation: cleft lip and palate. Developmental and neurological features: none reported. Rare phenotypes and other health problems: cleft lip and palate, recurrent bilateral otitis media. Ethnicity: Caucasian. 17p13.3 duplication transmitted to child with developmental delay/intellectual disability and cleft lip and palate (curry_13_DD/ID/ASD_discovery_cases-patient3a1).
Normal
1044993
1593686
548694
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient4a1
9 yrs.
M
ASD and ID
Presentation: ASD. Developmental and neurological features: ASD. Brain imaging abnormalities: none reported. Rare phenotypes and other health problems: none reported. Dysmorphic facial features: prominent jaw. Growth parameters: birth weight 10th %ile; weight 5th %ile, height 25th-50th %ile, OFC <5th %ile. Ethnicity: East Indian. Parents negative for 17p13.3 duplication (germline mosaicism).
Mild ID
1141516
1663892
522377
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient5a1
3 yrs.
M
ID
Presentation: cleft lip and palate. Developmental and neurological features: hypotonia. Rare phenotypes and other health problems: recurrent bilateral otitis media. Dysmorphic facial features: pointed chin, small mouth, cleft lip and palate. Growth parameters: birth weight >97th %ile; weight N/A, height N/A, OFC N/A. Ethnicity: Caucasian. 17p13.3 duplication inherited from father with learning disabilities and seizures (curry_13_DD/ID/ASD_discovery_cases-patient5a2).
Mild ID
1156956
1769918
612963
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient5a2
Adult
M
Learning disabilities and epilepsy
Presentation: cleft lip and palate. Developmental and neurological features: seizures, ADD, unusual affect. Rare phenotypes and other health problems: recurrent bilateral otitis media. Dysmorphic facial features: facial gestalt, long face, malar hypoplasia, prominent jaw, pointed chin, small mouth, cleft lip and palate. Ethnicity: Caucasian. 17p13.3 duplication transmitted to child with mild ID (curry_13_DD/ID/ASD_discovery_cases-patient5a1).
Learning disabilties
1156956
1769918
612963
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient6
14 mos.
F
ID and MCA
Presentation: multiple anomalies. Developmental and neurological features: hypotonia. Brain imaging abnormalities: short corpus callosum consistent with mild partial agenesis, probable or mild cerebellar vermis hypoplasia, subtle basi-occipital changes. Rare phenotypes and other health problems: split hand-foot limb deficiency, micrognathia, blepharophimosis, gastroesophageal reflux, bicuspid aortic valve, gastrostomy tube, orthopedic surgeries, gastroesophageal refluxies, recurrent bilateral otitis media. Dysmorphic facial features: round face, blepharophimosis, cleft palate. Ethnicity: Vietnamese.
Moderate ID
1189082
1641741
452660
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient7a1
27 yrs.
M
DD/ID and epilepsy
Presentation: severe developmental delay. Developmental and neurological features: seizures, mild spasticity, ataxia. Brain imaging abnormalities: atrophy of cerebral hemispheres and cerebellum, thin corpus callosum consistent with mild partial agenesis, ventriculomegaly. Rare phenotypes and other health problems: Achilles lengthening. Dysmorphic facial features: mild facial gestalt, long face, prominent jaw, pointed chin, small mouth, midface hypoplasia. Growth parameters: birth weight N/A; weight <3rd %ile, height <3rd %ile, OFC <3rd %ile. Ethnicity: Caucasian. 17p13.3 duplication inherited from mother with learning disabilities (curry_13_DD/ID/ASD_discovery_cases-patient7a2).
Severe ID
1281180
1598953
317774
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient7a2
Adult
F
Learning disabilities
Presentation: mild learning disabilities. Developmental and neurological features: none reported. Brain imaging abnormalities: none reported. Ethnicity: Caucasian. 17p13.3 duplication transmitted to child with severe ID and seizures (curry_13_DD/ID/ASD_discovery_cases-patient7a1).
Learning disabilties
1281180
1598953
317774
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient8a1
6 yrs.
M
DD/ID
Presentation: developmental delay. Developmental and neurological features: hypotonia. Brain imaging abnormalities: subtle basi-occipital changes. Rare phenotypes and other health problems: recurrent bilateral otitis media. Dysmorphic facial features: mild facial gestalt, facial hypotonia, long face, somewhat prominent jaw, pointed chin, small mouth. Growth parameters: birth weight N/A; weight 25th %ile, height 75th %ile, OFC 75th-90th %ile. Ethnicity: Caucasian. Sibling with DD/ID (curry_13_DD/ID/ASD_discovery_cases-patient8a2); both parents have ASD.
Mild ID
1290752
1560953
270202
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient8a2
4 yrs.
M
DD/ID
Presentation: developmental delay. Developmental and neurological features: hypotonia. Brain imaging abnormalities: subtle basi-occipital changes. Rare phenotypes and other health problems: recurrent bilateral otitis media. Growth parameters: birth weight N/A; weight 50th %ile, height 70th %ile, OFC 90th %ile. Ethnicity: Caucasian. Sibling with DD/ID (curry_13_DD/ID/ASD_discovery_cases-patient8a1); both parents have ASD.
Moderate ID
1290752
1560953
270202
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient9
12 mos.
M
ID
Presentation: failure-to-thrive, feeding problems. Developmental and neurological features: hypotonia. Brain imaging abnormalities: cerebellar vermis hypoplasia, basi-occipital malformation. Rare phenotypes and other health problems: failure-to-thrive, recurrent bilateral otitis media. Dysmorphic facial features: facial gestalt, facial hypotonia, round face, prominent jaw, pointed chin, small mouth, small nose. Growth parameters: birth weight reported as normal; weight -2 SD, height reported as average, OFC -1.5 SD. Ethnicity: Caucasian.
Mild ID
150208
3162756
3012549
GRCh38
Duplication
No
curry_13_DD/ID/ASD_discovery_cases-patient9
12 mos.
M
ID
Presentation: failure-to-thrive, feeding problems. Developmental and neurological features: hypotonia. Brain imaging abnormalities: cerebellar vermis hypoplasia, basi-occipital malformation. Rare phenotypes and other health problems: failure-to-thrive, recurrent bilateral otitis media. Dysmorphic facial features: facial gestalt, facial hypotonia, round face, prominent jaw, pointed chin, small mouth, small nose. Growth parameters: birth weight reported as normal; weight -2 SD, height reported as average, OFC -1.5 SD. Ethnicity: Caucasian.
Mild ID
1598898
1653459
54562
GRCh38
Triplication
No
dharmadhikari_12_ASD/DD/ID_discovery_cases-patient5
3 yrs.
M
Developmental delay
Birth/neonatal history: gestational history of poor fetal movement; delivered by C-section with normal birth weight and normal Apgars; neonatal history characterized by temperature instability, feeding difficulties (G-tube), and jaundice; acute encephalopathy and recurrent tonic and tonic-clonic seizures at 3 weeks. Developmental milestones: cannot roll-over or sit; taking nothing by mouth (all nutrition through G-tube). Language and communication evaluation: nonverbal, does not follow objects when they are presented. Motor and musculoskeletal evaluation: axial hypotonia with mild distal spasticity; reflexes show hypertonia. Epilepsy/seizures: intractile recurrent epilepsy; recurrent tonic and tonic-clonic seizures starting at 3 weeks; subsequently developed refractory flexor infantile spasms; currently on ketogenic diet and Zonisamide. Brain imaging: bilateral symmetric posterior occipital cystic encephalomalacia with cortical laminar necrosis and cerebral atrophy consistent with hypoxic ischemia on brain MRI; global decrease in NAA noted on MRI SPECT. Vision: cortical blindness. Growth parameters: microcephaly (OFC -6 SD); height and weight, 50th %iles.
Profound developmental delay
3092042
3481733
389692
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_266402
N/A
F
Developmental delay/intellectual disability
333871
373450
39580
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299977
N/A
F
Developmental delay/intellectual disability
237218
1934711
1697494
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14016_330
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3398661
3432868
34208
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14247_3710
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
929944
1330341
400398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16098_1571157001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
409123
568933
159811
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20071_1335001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3601261
3658102
56842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20114_1547001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3601921
3658102
56182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21001_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3601921
3658102
56182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3037_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
842498
993062
150565
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3305_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3002804
3686173
683370
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4203_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
697017
786708
89692
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4296_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153794
733582
579789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4302_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
831359
894239
62881
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4335_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
957986
1039839
81854
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5082_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1904411
1994526
90116
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5382_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3601261
3652130
50870
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8703_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1242212
1399178
156967
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8703_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
1601282
1638896
37615
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000012
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S16
N/A
1991562
2024880
33319
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1067302
Autism
1040869
1106336
65468
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1075301
Autism
652759
685603
32845
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU026503
Autism
3336758
3344719
7962
Unknown
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case1322
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1323
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1324
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1325
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1326
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1327
NA
NA
Developmental delay
NA
NA
1150129
2729956
1579828
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1328
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1329
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1330
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1331
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1332
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1333
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1334
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1335
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1336
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1337
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1338
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1339
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1340
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1341
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1342
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1343
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1344
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1345
NA
NA
Developmental delay
NA
NA
1299956
1419956
120001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1346
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1347
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1348
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1349
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1350
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1351
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1352
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1353
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1354
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1355
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1356
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1357
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1358
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1359
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1360
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1361
NA
NA
Developmental delay
NA
NA
2519956
2689956
170001
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case14963
13 yrs.
M
Cardiac defects
Kyphosis. Congenital anomalies: 2 small ventricular septal defects and mild enlargement of aorta; bilateral Morgagni hernias; hiatal hernia; T12 hemivertebra. All other measures not specified.
NA
1385270
2333752
948483
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case36941
9 yrs.
M
Developmental delay
Failure to thrive, microcephaly. Behavioral problems: anger management issues. Normal tone. Unilateral hearing loss. Dysmorphic features: upslanting palpebral fissures, pointed chin, large ears, midface hypoplasia, high palate, underbite. Family history: mother has cleft lip/palate, unilateral hearing loss, learning disability, and mild dysmorphisms.
Global developmental delay
919439
1653460
734022
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case38663
NA
NA
Developmental delay
Dysmorphic features
Developmental delay
2519956
2689956
170001
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14226.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1052164
1717595
665432
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1575302
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
1138025
1400587
262563
GRCh38
Duplication
Yes
hnoonual_17_ASD_discovery_cases-caseAR33-3
N/A
M
ASD
No additional clinical features
379187
537257
158071
GRCh38
Duplication
No
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
960754
1158084
197331
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000815
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3543809
3658724
114916
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000829
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1065649
2261786
1196138
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000840
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1368601
1589181
220581
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000927
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
3102332
2903585
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001006
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
847955
1589181
741227
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001079
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
644280
2193615
1549336
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001101
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
2261786
2063039
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001123
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1227482
1506548
279067
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001127
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
722235
523488
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001233
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
496099
297352
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001763
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
436763
2527511
2090749
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001899
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2527510
3467165
939656
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002003
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2452259
2691244
238986
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002007
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1287199
3154232
1867034
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002125
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
279388
729021
449634
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002614
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
279611
848014
568404
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002679
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
855404
1345517
490114
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002690
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2490435
2638867
148433
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003823
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
722235
523488
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003880
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
445331
2385512
1940182
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003911
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1174818
1634495
459678
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003966
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1353038
1379031
25994
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004016
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1368601
1379031
10431
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004025
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1281181
1541624
260444
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
234496
353077
118582
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004076
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1325809
1638055
312247
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004286
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
193307
1376276
1182970
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004287
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
234496
2385512
2151017
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004453
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
226272
1065849
839578
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004739
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1984085
2193615
209531
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004795
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
601327
402580
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004937
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
258417
770280
511864
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005025
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1325809
1638055
312247
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005048
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2436067
2818828
382762
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005226
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3036729
3684667
647939
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005322
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
198748
3436345
3237598
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12578.p1
N/A
M
ASD
ASD proband from SSC quad family 12578. SRS score of 79.
Full-scale IQ (FSIQ) score of 81.
156219
162190
5972
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13335.p1
N/A
F
ASD
ASD proband from SSC quad family 13335. SRS score N/A.
Full-scale IQ (FSIQ) score of 18.
769868
792069
22202
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11004.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1842778
1853197
10420
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12243.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1613194
1616769
3576
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12976.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
2030154
2085901
55748
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14193.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
623532
631628
8097
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14226.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
1058744
1708222
649479
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11098.p1
NA
M
ASD
NA
NA
337911
432363
94453
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown64
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
150208
864898
714691
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam11112Proband10799
N/A
F
ASD
Additional clinical profile info N/A
ID
382145
771153
389009
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-1350
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Arachnodactyly, cleft palate, coloboma of eyelids, feeding problems in infants, low birthweight (<3rd centile), low set ears, intellectual disability/developmental delay, patent ductus arteriosus, prominent forehead/frontal bossing, pulmonary stenosis, short stature (prenatal onset), small mandible/micrognathia.
Developmental delay/intellectual disability
179378
2271915
2092538
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-1350
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Arachnodactyly, cleft palate, coloboma of eyelids, feeding problems in infants, low birthweight (<3rd centile), low set ears, intellectual disability/developmental delay, patent ductus arteriosus, prominent forehead/frontal bossing, pulmonary stenosis, short stature (prenatal onset), small mandible/micrognathia.
Developmental delay/intellectual disability
179378
2271915
2092538
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249954
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Feeding problems in infants, hyptonia, intellectual disability/developmental delay, speech delay, wide forehead
Developmental delay/intellectual disability
179378
1009499
830122
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249970
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Epicanthic folds, hypotonia, low-set ears, intellectual disability/developmental delay, simple/absent philtrum, single palmar crease, thin upper lip, upturned nose
Developmental delay/intellectual disability
1174179
2172573
998395
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250378
N/A
M
Autism and DD/ID
Database: DECIPHER. Indication for study: Autism, cranium, hyptonia, low-set ears, intellectual disability/developmental delay, tall stature
Developmental delay/intellectual disability
1248304
3256558
2008255
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253406
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
150208
2511365
2361158
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253729
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Developmental delay/intellectual disability
234496
3126679
2892184
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256528
N/A
M
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Coarctation, intellectual disability/developmental delay, small kidneys, small/short nose, thin upper lip, ventricular septal defect
Developmental delay/intellectual disability
1699175
2685332
986158
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256602
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
1875643
2076434
200792
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260489
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
2150769
2366879
216111
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Ataxia, hypoplastic toes (including phalanges), intellectual disability/developmental delay, microcephaly, myopia, triangular face.
Developmental delay/intellectual disability
198748
3155527
2956780
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC1378
N/A
M
Developmental delay/intellectual disability
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, intellectual disability, karyotype: der(18)t(17;18) w/18q del
Developmental delay/intellectual disability
198666
2802086
2603421
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19242
N/A
M
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features
198666
888075
689410
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19939
N/A
M
Autism and developmental delay
Database: Signature. Indication for study: Developmental Delay, Autism
Developmental delay
1341585
2227113
885529
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34811
N/A
F
Developmental delay
Database: Signature. Indication for study: Developmental Delay, karyotype: der(3)t(3;17) w/~5Mb 3p del
Developmental delay
203657
3155528
2951872
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC35373
N/A
F
Possible TAR syndrome
Database: Signature. Indication for study: Possible TAR Syndrome
1875642
2261787
386146
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC42676
N/A
M
Dysmorphic features
Database: Signature. Indication for study: Dysmorphic Features, karyotype: der(4)t(4;17) w/~5Mb 4p del
203657
2901661
2698005
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC53342
N/A
M
MCA
Database: Signature. Indication for study: Abnormal ultrasound, cleft palate, single umbilical artery, bilateral hydronephrosis, MGM with history of still births, karyotype: der(17)ins(17)(q25.3?;p13.3)
203143
2651154
2448012
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC65538
N/A
M
MCA
Database: Signature. Indication for study: Premature, Hydrops fetalis, feeding, and respiratory issues in neonatal period, Truncal hypotonia, Right microtia
2110156
2375064
264909
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67921
N/A
M
Developmental delay
Database: Signature. Indication for study: Developmental Delay, Failure to thrive, feeding dysfunction
Developmental delay
2026215
2929649
903435
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient189
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient190
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient191
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient192
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient193
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient194
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient195
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient196
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient197
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient198
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient199
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient200
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient201
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient202
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient203
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient204
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient205
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient206
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient207
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient208
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient209
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient210
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient211
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient212
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_cases-214-1
ASD
2260944
2372371
111428
Unknown
Duplication
No
nord_11_ASD_discovery_cases-214-1
ASD
1052092
1230827
178736
Unknown
Duplication
No
o'roak_12_ASD_discovery_cases-case13335.p1
NA
F
ASD/Autism
Case also identified with de novo ACP2 and ZNF420 missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 25
763729
794936
31208
GRCh38
Deletion
Yes
pham_14_ASD/DD/EP/ID_discovery_cases-case48
10 yrs.
M
Epilepsy
Indication for study: epilepsy.
197755
2049568
1851814
GRCh38
Mosaic deletion
Yes
pinto_10_ASD_discovery_cases-case5082_4
NA
F
ASD
NA
NA
1904411
1994526
90116
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5382_3
NA
M
ASD
NA
NA
3601261
3652130
50870
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6413_4
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
1771833
1781659
9827
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8703_201
N/A
M
ASD
Autism (ADI-R and ADOS positive), OCD and depression; gross and fine motor delays; speech delay (first words 30 mo, first phrases 36 mo), odd intonation and loud volume; stiff and unusual gait, toe-walking; dyspraxia; overgrowth, long narrow head; no seizures, normal brain MRI. Family history: father diagnosed with depression and ADHD, no diagnosis of OCD but mild symptoms, shows broader autism phenotypic characteristics including social abnormalities during childhood and currently (few friendships, shyness, aloofness; circumscribed interests and reported rigid personality), language delay and continued articulation errors, and neuropsychological testing revealed manual motor impairments; no CNV in unaffected sibling.
Normal IQ (WASI at 17 y: VIQ 104, PIQ 118, FSIQ 111)
1242212
1399178
156967
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1581A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU075704; NDAR ID NDAR_INVUN632MCA)
1799855
1880693
80839
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3825A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1492302; NDAR ID NDAR_INVGA886MHY)
247109
443494
196386
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4559A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1575302; NDAR ID NDAR_INVAZ827NFA)
1280000
1365060
85061
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4559A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1575302; NDAR ID NDAR_INVAZ827NFA)
737844
826080
88237
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115728L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3129223
3140517
11295
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146446L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
364882
812836
447955
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47828
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
422868
446785
23918
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50800L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1182304
1207115
24812
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case59838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1039945
1044279
4335
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case63167L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
1751391
1840956
89566
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68672
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
1182304
1207115
24812
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case92174L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2734668
2750496
15829
Unknown
Duplication
No
qiao_12_ASD_discovery_cases-case10-08A
10 yrs. 2 mos.
M
ASD
Attention deficit disorder, dysmorphic features including a long face, pointed cleft chin, bilateral epicanthic folds, epicanthus inversus, low-set ears, broad nasal root, bilateral frontotemporal narrowing, prominent supraorbital ridges,malar hypoplasia, high arched palate with thick alveolar ridges, tight achilles tendons, no seizures, normal opthalmology and audiology, normal growth parameters. No evidence of seizures and cranial imaging/EEG not performed.
Split cognitive profile suggestive of a learning disability
64214
598609
534000
Unknown
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_27
15 yrs.
M
Intellectual disability and ADHD
ADHD
Intellectual disability
150732
388774
238043
GRCh38
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase21
46 yrs.
F
Learning disability (developmental delay/intellectual disability)
Seizures
1533246
1687830
154585
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case19939
NA
NA
ASD
NA
NA
1191629
2077157
885528
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case23295
NA
NA
ASD
NA
NA
0
518799
518799
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-340
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
3103191
3161740
58550
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
1836494
1854909
18416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
2883844
2896253
12410
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
343397
435486
92090
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
2013617
2014316
700
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
1365389
1380704
15316
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11296.p1
13.6
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
2252654
2264396
11743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11347.p1
15.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 75; verbal IQ, 37
3623343
3660779
37437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11412.p1
8.2
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85
2885673
2896253
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11433.p1
13.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ, 96
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
1006758
1008054
1297
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11456.p1
8.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 77
1006758
1008054
1297
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11501.p1
11.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 71
1006413
1008054
1642
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
2885673
2895023
9351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
1006758
1020676
13919
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11532.p1
9.1
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 65; verbal IQ, 60
3600233
3658102
57870
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
2525214
2530730
5517
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
2885673
2895023
9351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11920.p1
10.8
M
Aspergers
NA
Full-scale IQ, 96; non-verbal IQ, 91; verbal IQ, 106
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11946.p1
11
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 37
840989
893132
52144
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
860445
947302
86858
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
1006758
1007161
404
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12358.p1
9.3
F
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 36; verbal IQ, 36
2885673
2896253
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12430.p1
9.8
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 106
1006758
1008054
1297
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
158756
184412
25657
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
3280799
3290664
9866
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
2028408
2090836
62429
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
310060
371487
61428
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13067.p1
5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
3601921
3652130
50210
GRCh38
Deletion
No
spataro_23_ASD/DD/ID_discovery_cases-case76
17.8 yrs.
F
Intellectual disability
Motor and musculoskeletal evaluation: spastic tetraparesis, dystonia. Brain imaging: pachygyria. Additional medical history: dysphagia, gastroesophageal reflux.
Severe intellectual disability
2666991
2681799
14809
GRCh38
Deletion
Yes
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Concordant NDD diagnostic group
1300323
1341698
41376
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Concordant NDD diagnostic group
1300323
1351581
51259
GRCh38
Duplication
No
trakadis_21_NDD/NPD_discovery_cases-case9
NA
NA
ADHD and psychosis
Behavioral/psychiatric evaluation: ADHD, psychosis. Additional medical history: unspecified neurological abnormalities, endocrinological abnormalities, skin abnormalities, and congenital malformations/anomalies. Family history: positive for intellectual disability, autism spectrum disorder, and/or neuropsychiatric disorders.
1345463
1590068
244606
GRCh38
Duplication
No
vazna_08_ASD_discovery_cases-case1
NA
F
Autism
Diagnosis of atypical autism (CARS score combined with ADI-R results confirmed diagnosis). Additional diagnoses of neurofibromatosis and atypical absence epilepsy. Additional characteristics: growth retardation; microcephaly; mild facial dysmorphism (brachycephaly, bitemporal narrowing, wide nasal bridge, narrow palpebral fissures, epicanthal folds, thin upper lip, widely spaced teeth, down-turned mouth corners, low-set dysplastic ears); scoliosis; cafe-au-lait spots, inguinal freckling; leukoderma. Developmental milestones: delayed psychomotor development (sitting with support from 1 year, first steps form 18 months); slightly delayed speech development (1st words after 1 year, simple sentences after 3 years, severe dyslalia). Karyotype: mosaic ring chromosome 17 (83 out of 100 mitoses) and chromosome 17 monosomy (12 out of 100 mitoses) [detected by G-banded karyotyping; further analyzed by FISH and MLPA]. Family history: no family history of neurofibromatosis or mental retardation; maternal cousin of case's mother with epilepsy. Originally reported in Havlovicova et al. 2007 study; since that report, growth retardation increased, seizures had become more severe, and dermatological & behavioral symptoms worsened.
Moderate mental retardation (IQ 45)
150208
2041562
1891355
GRCh38
Mosaic deletion
Yes
vazna_08_ASD_discovery_cases-case1
NA
F
Autism
Diagnosis of atypical autism (CARS score combined with ADI-R results confirmed diagnosis). Additional diagnoses of neurofibromatosis and atypical absence epilepsy. Additional characteristics: growth retardation; microcephaly; mild facial dysmorphism (brachycephaly, bitemporal narrowing, wide nasal bridge, narrow palpebral fissures, epicanthal folds, thin upper lip, widely spaced teeth, down-turned mouth corners, low-set dysplastic ears); scoliosis; cafe-au-lait spots, inguinal freckling; leukoderma. Developmental milestones: delayed psychomotor development (sitting with support from 1 year, first steps form 18 months); slightly delayed speech development (1st words after 1 year, simple sentences after 3 years, severe dyslalia). Karyotype: mosaic ring chromosome 17 (83 out of 100 mitoses) and chromosome 17 monosomy (12 out of 100 mitoses) [detected by G-banded karyotyping; further analyzed by FISH and MLPA]. Family history: no family history of neurofibromatosis or mental retardation; maternal cousin of case's mother with epilepsy. Originally reported in Havlovicova et al. 2007 study; since that report, growth retardation increased, seizures had become more severe, and dermatological & behavioral symptoms worsened.
Moderate mental retardation (IQ 45)
1891990 (approx.)
1892973 (approx.)
983
NCBI35
Mosaic deletion
Yes
verberne_22_ASD/DD/ID_discovery_cases-case249
NA
F
Lissencephaly, facial dysmorphism
2637703
2659967
22265
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case1101366
NA
M
ASD, developmental delay, and epilepsy/seizures
Global developmental delay, history of seizures, tendency to turn head to side, head circumference 50-98th %ile. Sibling with global developmental delay, and another with unilateral hearing loss
1292793
1423362
130570
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case509
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
672552
674650
2099
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case510
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
930550
1613186
682637
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case511
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3254598
3287552
32955
GRCh38
Duplication
No
yuan_15_DD_discovery_cases-caseBAB2337
11 mos.
M
Developmental delay
Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).
150208
663672
513465
GRCh38
Deletion
Yes
yuan_15_DD_discovery_cases-caseBAB6967
N/A
N/A
N/A
Detailed clinical information for this patient not available. Case CNV pattern: complex genomic rearrangment (deletion-normal-copy segment-duplication).
3027002
3064577
37576
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chen_17_ASD_discovery_controls1-control20
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
322892
674650
351759
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control21
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
322892
674650
351759
GRCh38
Duplication
coe_14_ASD/DD/ID_discovery_controls-control37
N/A
N/A
Control
N/A
N/A
650010
1449956
799947
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_controls-control38
N/A
N/A
Control
N/A
N/A
2459956
3019956
560001
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036019032_r
N/A
N/A
Control
No previous psychiatric history
1250564
1330341
79778
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB300185_1007874654
N/A
N/A
Control
No previous psychiatric history
835613
993062
157450
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB436454_1007874592
N/A
N/A
Control
No previous psychiatric history
153794
276910
123117
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
N/A
N/A
Control
No previous psychiatric history
3601921
3652130
50210
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
N/A
N/A
Control
No previous psychiatric history
885997
1058660
172664
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
N/A
N/A
Control
No previous psychiatric history
648076
826951
178876
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB797182_0057061058
N/A
N/A
Control
No previous psychiatric history
153794
338802
185009
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
N/A
N/A
Control
No previous psychiatric history
3601261
3652130
50870
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB826365_0057060991
N/A
N/A
Control
No previous psychiatric history
885522
1058660
173139
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB835590_0057060979
N/A
N/A
Control
No previous psychiatric history
184778
315973
131196
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
N/A
N/A
Control
No previous psychiatric history
1047239
1134973
87735
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
N/A
N/A
Control
No previous psychiatric history
3600233
3652130
51898
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
N/A
N/A
Control
No previous psychiatric history
835613
993062
157450
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
N/A
N/A
Control
No previous psychiatric history
3601261
3658102
56842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
N/A
N/A
Control
No previous psychiatric history
840989
923791
82803
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
N/A
N/A
Control
No previous psychiatric history
153794
980262
826469
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900465_900465
N/A
N/A
Control
No previous psychiatric history
427811
710261
282451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
N/A
N/A
Control
No previous psychiatric history
881396
947302
65907
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900625_900625
N/A
N/A
Control
No previous psychiatric history
835613
980262
144650
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
N/A
N/A
Control
No previous psychiatric history
3601261
3658102
56842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
N/A
N/A
Control
No previous psychiatric history
3601261
3658102
56842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
N/A
N/A
Control
No previous psychiatric history
3398661
3432868
34208
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
N/A
N/A
Control
No previous psychiatric history
3566559
3616660
50102
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902532_902532
N/A
N/A
Control
No previous psychiatric history
3601261
3658102
56842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902656_902656
N/A
N/A
Control
No previous psychiatric history
3601921
3658102
56182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
N/A
N/A
Control
No previous psychiatric history
974686
1008054
33369
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_controls-control103
NA
NA
Control
NA
NA
1299956
1419956
120001
GRCh38
Deletion
NA
krumm_13_ASD_discovery_controls-control13165.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13165. SRS score of 49.
445835
826078
380244
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13263.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13263. SRS score of 37.
156219
733181
576963
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13335.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13335. SRS score of 36.
769868
792069
22202
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13599.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13599. SRS score of 39.
769868
792069
22202
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11941.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
445835
826078
380244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12976.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
2033504
2085901
52398
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13165.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
445835
826078
380244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13263.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
156219
733181
576963
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14227.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
156219
733181
576963
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11098.s1
NA
F
Control
NA
NA
337911
432363
94453
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11941.s1
NA
F
Control
NA
NA
426320
893450
467131
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control40
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control41
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control42
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control43
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control44
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control45
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control46
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nord_11_ASD_discovery_controls-04C28078
Control
25781
44426
18646
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C36033A
N/A
M
Control
NIMH Control (NIMH ID 14132)
1467986
1541640
73655
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11054.s1
10.5
M
Control (matched sibling)
NA
NA
2885673
2896253
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
769044
944274
175231
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11090.s1
14.8
M
Control (matched sibling)
NA
NA
348482
371487
23006
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
343397
423507
80111
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11124.s1
13.3
M
Control (matched sibling)
NA
NA
3601261
3652130
50870
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11200.s1
9.5
F
Control (matched sibling)
NA
NA
2883844
2896253
12410
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
2885673
2896253
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
1367268
1380704
13437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11285.s1
16.4
M
Control (matched sibling)
NA
NA
3600233
3652130
51898
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11433.s1
11.8
F
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
3601261
3658102
56842
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11694.s1
6.6
F
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
2809873
2816236
6364
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
1006758
1007161
404
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11909.s1
5.7
M
Control (matched sibling)
NA
NA
1006413
1007161
749
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11933.s1
6.8
M
Control (matched sibling)
NA
NA
1006758
1008054
1297
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
753640
889877
136238
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
427811
747278
319468
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
3623343
3652130
28788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12212.s1
12.3
F
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12430.s1
8.3
M
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
860445
920583
60139
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
3280799
3290664
9866
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
1006413
1008054
1642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12976.s1
8.5
M
Control (matched sibling)
NA
NA
2028408
2090836
62429
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
3565087
3583848
18762
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahmad_23_ASD/ADHD/DD_discovery_cases-case7
FISH
Unknown
ABR,CRK,DPH1,MCUR1P1,INPP5K,SMG6-IT1,TSR1,SRR,METTL16,RILP,MIR22HG,WDR81,SMYD4,OVCA2,SLC43A2,RTN4RL1,HIC1,TRARG1,MIR212,MIR22,MIR132,HNRNPA1P16,EIF4A1P9,SNORD91B,SNORD91A,BHLHA9,TLCD2,MNT,PAFAH1B1,MYO1C,OR1D2,PITPNA-AS1,MIR1253,SAMD11P1,RPA1,SERPINF1,SERPINF2,PITPNA,CCDC92B,MIR6776,RN7SL33P,RN7SL624P,RN7SL105P,RN7SL608P,SCARF1,OR1D5,YWHAE,SGSM2,PRPF8,RAP1GAP2,CLUH,SMG6
akter_23_ASD/ADHD/DD/ID_discovery_cases-case63
Unknown
INPP5K,RILP,MIR22HG,WDR81,SMYD4,SLC43A2,RTN4RL1,MIR22,TLCD2,PITPNA-AS1,RPA1,SERPINF1,SERPINF2,PITPNA,RN7SL105P,SCARF1,PRPF8
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0257
Unknown
Unknown
Unknown
HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,SRR,TSR1,MNT,CLUH,CCDC92B,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,SMG6
asadollahi_14_NDD_discovery_cases-case617
MLPA
Unknown (parents N/A)
Unknown
Unknown
PAFAH1B1
battaglia_13_DD/ID/ASD_discovery_cases-case55
FISH or qPCR
De novo
Unknown
Unknown
PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,SMG6
brandler_18_ASD_discovery_cases-caseP6Q4Z_01
Not available
Paternal
SMG6
breckpot_16_ID/catatonia_discovery_cases-case8
Unknown
Unknown
RN7SL105P,RILP,SCARF1,PRPF8,SLC43A2
bremer_11_ASD_discovery_cases-case7
MLPA, FISH
De novo
NA
NA
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,VPS53,MRM3,NXN,CRK,ABR
bruno_10_ASD/DD/LD/MR_discovery_cases-case1
FISH
De novo
Unknown
TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR,TSR1,SGSM2
bruno_10_ASD/DD/LD/MR_discovery_cases-case10
FISH
De novo
Unknown
NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR,TSR1,SGSM2,MNT,METTL16,PAFAH1B1,KIAA0664,RAP1GAP2
bruno_10_ASD/DD/LD/MR_discovery_cases-case11
aCGH
Unknown
Unknown
Unknown
ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81
bruno_10_ASD/DD/LD/MR_discovery_cases-case12
aCGH
Maternal
Unknown
Not segregated
CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2
bruno_10_ASD/DD/LD/MR_discovery_cases-case13
aCGH
Maternal
Unknown
Unknown
BHLHA9,TUSC5
bruno_10_ASD/DD/LD/MR_discovery_cases-case2
FISH
De novo
Unknown
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53,FAM57A,GEMIN4,GLOD4,RNMTL1,NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6
bruno_10_ASD/DD/LD/MR_discovery_cases-case3
FISH
De novo
Unknown
BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA
bruno_10_ASD/DD/LD/MR_discovery_cases-case4
FISH
De novo
Unknown
TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR,TSR1,SGSM2,MNT
bruno_10_ASD/DD/LD/MR_discovery_cases-case5
aCGH
De novo
Unknown
TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR
bruno_10_ASD/DD/LD/MR_discovery_cases-case6
aCGH
Likely maternal
Maternal
Multiplex
Likely segregated
CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR
bruno_10_ASD/DD/LD/MR_discovery_cases-case7
MLPA
Unknown
Unknown
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53,FAM57A,GEMIN4,GLOD4,RNMTL1,NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1
bruno_10_ASD/DD/LD/MR_discovery_cases-case8
MLPA
De novo
Unknown
SMG6,SRR,TSR1,SGSM2,MNT,METTL16,PAFAH1B1,KIAA0664,RAP1GAP2,OR1D5,OR1D2,OR1G1,OR1A2,OR1A1,OR3A2,OR3A1,OR1E1,OR3A3,OR1E2,SPATA22
bruno_10_ASD/DD/LD/MR_discovery_cases-case8
FISH
De novo
Unknown
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53,FAM57A,GEMIN4,GLOD4,RNMTL1,NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6
bruno_10_ASD/DD/LD/MR_discovery_cases-case9
MLPA
De novo
Unknown
FAM101B,VPS53,FAM57A,GEMIN4,GLOD4,RNMTL1,NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA
capra_12_ASD_discovery_cases-case1
FISH
Maternal
Possible multiplex (sister with behavioral problems and aggression)
Unknown (siblings NA for testing)
BHLHA9,PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,ABR
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
VPS53
chen_17_ASD_discovery_cases-caseU-1578
RT-qPCR
De novo
MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,NXN,CRK,SLC43A2,ABR
chen_17_ASD_discovery_cases-caseU-212
RT-qPCR
Paternal
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
coe_14_ASD/DD/ID_discovery_cases-case202
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case203
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case204
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case205
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case206
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case207
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case208
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case209
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case210
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case211
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case212
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case213
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case214
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case215
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case216
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case217
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case218
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case219
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case220
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case221
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case222
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case223
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
coe_14_ASD/DD/ID_discovery_cases-case224
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case225
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case226
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case227
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case228
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case229
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case230
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case231
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case232
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case233
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case234
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case235
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case236
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case237
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case238
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case239
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case240
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case241
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case242
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case243
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case244
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case245
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case246
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case247
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case248
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case249
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case250
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case251
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_cases-case252
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case253
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case254
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case255
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case256
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case257
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case258
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case259
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case260
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case261
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case262
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case263
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case264
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case265
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case266
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case267
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case268
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case269
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
coe_14_ASD/DD/ID_discovery_cases-case270
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
curry_13_DD/ID/ASD_discovery_cases-patient1
Unknown (not maternal)
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient11a1
Maternal
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient11a2
Unknown
Unknown
Possibly segregated
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53,FAM57A,GEMIN4,GLOD4,RNMTL1,NXN,TIMM22,ABR,BHLHA9,TUSC5,YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6,SRR,TSR1,SGSM2,MNT,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient12
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,TRPV3,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient13a1
Paternal
Paternal
Multi-generational
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient13a2
Unknown
Multi-generational
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient14
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient15
De novo
Unknown
Possibly segregated
MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient16
De novo
Unknown
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient17a1
Maternal
Unknown
Unknown
PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient18
De novo
Unknown
Possibly segregated
MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,SRR,TSR1,MNT,CLUH,CCDC92B,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient2
De novo
Unknown
Possibly segregated
MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,CRK,SLC43A2,TLCD2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient20a1
Paternal
Paternal
Multi-generational
Possibly segregated
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MNT,CLUH,CCDC92B,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient20a2
Paternal
Paternal
Multi-generational
Possibly segregated
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MNT,CLUH,CCDC92B,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient20a3
Unknown
Multi-generational
Possibly segregated
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MNT,CLUH,CCDC92B,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient21a1
Maternal
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,CLUH,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient21a2
Maternal
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,CLUH,METTL16,PAFAH1B1
curry_13_DD/ID/ASD_discovery_cases-patient3a1
Maternal (cleft lip and palate)
Maternal
Multi-generational
Possibly segregated
BHLHA9,PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,SLC43A2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient3a2
Maternal
Multi-generational
Possibly segregated
BHLHA9,PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,SLC43A2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient4a1
Likely de novo (germline mosaic)
Unknown
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,CRK,SLC43A2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient5a1
Paternal
Paternal
Multi-generational
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,CRK,SLC43A2,TLCD2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient5a2
Unknown
Multi-generational
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,CRK,SLC43A2,TLCD2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient6
De novo
Unknown
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,CRK,SLC43A2,ABR
curry_13_DD/ID/ASD_discovery_cases-patient7a1
Maternal
Maternal
Multi-generational
Possibly segregated
PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,SLC43A2
curry_13_DD/ID/ASD_discovery_cases-patient7a2
Unknown
Multi-generational
Possibly segregated
PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,SLC43A2
curry_13_DD/ID/ASD_discovery_cases-patient8a1
Likely inherited (both parents have ASD)
Inherited
Multi-generational
Possibly segregated
PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK
curry_13_DD/ID/ASD_discovery_cases-patient8a2
Likely inherited (both parents have ASD)
Inherited
Multi-generational
Possibly segregated
PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK
curry_13_DD/ID/ASD_discovery_cases-patient9
De novo
Unknown
Possibly segregated
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
curry_13_DD/ID/ASD_discovery_cases-patient9
De novo
Unknown
Possibly segregated
RN7SL105P,RILP,SCARF1,PRPF8,SLC43A2
dharmadhikari_12_ASD/DD/ID_discovery_cases-patient5
FISH
Maternal
OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA
digregorio_17_DD/ID_discovery_cases-DECIPHER_266402
Paternal
RPH3AL
digregorio_17_DD/ID_discovery_cases-DECIPHER_299977
qPCR
De novo
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR
engchuan_15_ASD_discovery_cases-case14016_330
Unknown
OR3A3
engchuan_15_ASD_discovery_cases-case14247_3710
Unknown
MIR3183,BHLHA9,TIMM22,TRARG1,NXN,ABR
engchuan_15_ASD_discovery_cases-case16098_1571157001
Unknown
C17orf97,RFLNB,VPS53
engchuan_15_ASD_discovery_cases-case20071_1335001
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_cases-case20114_1547001
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_cases-case21001_1
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_cases-case3037_3
Unknown
NXN
engchuan_15_ASD_discovery_cases-case3305_3
Unknown
OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,RAP1GAP2,TRPV3,P2RX5-TAX1BP3
engchuan_15_ASD_discovery_cases-case4203_1
Unknown
FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3
engchuan_15_ASD_discovery_cases-case4296_1
Unknown
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,RPH3AL,VPS53
engchuan_15_ASD_discovery_cases-case4302_1
Unknown
NXN
engchuan_15_ASD_discovery_cases-case4335_1
Unknown
MIR3183,TIMM22,NXN,ABR
engchuan_15_ASD_discovery_cases-case5082_4
Unknown
RTN4RL1
engchuan_15_ASD_discovery_cases-case5382_3
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_cases-case8703_201
Unknown
BHLHA9,TRARG1,YWHAE
engchuan_15_ASD_discovery_cases-case8703_201
Unknown
RN7SL105P,SCARF1,SLC43A2
fitzgerald_14_ASD/DD/ID_discovery_cases-case000012
De novo
Unknown
Unknown
RTN4RL1
gai_11_ASD_discovery_cases-AU1067302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1075301
Inherited
NXN
gai_11_ASD_replication_cases-AU026503
Inherited
ASPA
girirajan_12_ASD/DD/ID_discovery_cases-case1322
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1323
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1324
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1325
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1326
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1327
NA
Unknown
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case1328
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1329
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1330
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1331
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1332
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1333
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1334
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1335
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1336
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1337
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1338
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1339
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1340
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1341
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1342
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1343
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1344
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1345
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
girirajan_12_ASD/DD/ID_discovery_cases-case1346
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1347
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1348
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1349
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1350
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1351
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1352
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1353
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1354
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1355
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1356
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1357
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1358
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1359
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1360
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case1361
NA
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_12_ASD/DD/ID_discovery_cases-case14963
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SMG6
girirajan_12_ASD/DD/ID_discovery_cases-case36941
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,NXN,CRK,SLC43A2,ABR
girirajan_12_ASD/DD/ID_discovery_cases-case38663
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,PAFAH1B1
girirajan_13a_ASD_discovery_cases-14226.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,CRK,SLC43A2,TLCD2,ABR
girirajan_13a_ASD_discovery_cases-AU1575302
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
BHLHA9,TRARG1,YWHAE,ABR
hnoonual_17_ASD_discovery_cases-caseAR33-3
Paternal
C17orf97,RFLNB,RPH3AL,VPS53
iourov_12_ASD/ID/EP_discovery_cases-case22
Unknown
Unknown
Unknown
MIR3183,TIMM22,NXN,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000815
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TRPV1,SHPK,CTNS,TRPV3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000829
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000840
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PITPNA-AS1,YWHAE,MYO1C,INPP5K,PITPNA,CRK,SLC43A2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000927
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001006
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3183,BHLHA9,PITPNA-AS1,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,NXN,CRK,SLC43A2,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001079
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001101
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001123
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BHLHA9,TRARG1,YWHAE,MYO1C,INPP5K,CRK,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001127
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001233
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
C17orf97,RFLNB,RPH3AL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001763
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001899
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,PAFAH1B1,RAP1GAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002003
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,CLUH,METTL16,PAFAH1B1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002007
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002125
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002614
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53,MRM3,NXN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002679
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR3183,BHLHA9,TIMM22,TRARG1,YWHAE,NXN,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002690
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,METTL16,PAFAH1B1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003823
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003880
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003911
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BHLHA9,PITPNA-AS1,RN7SL105P,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,CRK,SLC43A2,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003966
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
YWHAE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004016
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
YWHAE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004025
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PITPNA-AS1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,CRK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPH3AL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004076
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PITPNA-AS1,RN7SL105P,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,CRK,SLC43A2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004286
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,RPH3AL,VPS53,MRM3,NXN,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004287
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,ABR,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004453
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,RPH3AL,VPS53,MRM3,NXN,ABR
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004739
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OVCA2,MIR132,MIR212,HIC1,MCUR1P1,DPH1,RTN4RL1,SMG6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004795
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C17orf97,RFLNB,RPH3AL,VPS53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004937
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005025
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PITPNA-AS1,RN7SL105P,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,CRK,SLC43A2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005048
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005226
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,TAX1BP3,EMC6,OR1D2,OR1A1,OR3A2,OR3A1,SPATA22,ASPA,TRPV1,SHPK,CTNS,P2RX5,RAP1GAP2,TRPV3,P2RX5-TAX1BP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005322
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,OR1D3P,OR3A4P,OR1AC1P,OR1E1,OR3A3,OR1E2,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,OR3A2,OR3A1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
krumm_13_ASD_discovery_cases-case12578.p1
Solid phase hybridization (Illumina 1M)
Maternal
Simplex
Segregated
DOC2B
krumm_13_ASD_discovery_cases-case13335.p1
Paternal
Simplex
Not segregated
GLOD4,MRM3
krumm_15_ASD_discovery_cases-case11004.p1
Illumina 1M
Maternal
Simplex
Segregated
RPA1
krumm_15_ASD_discovery_cases-case12243.p1
Illumina 1MDuo, aCGH
De novo
Simplex
Segregated
SLC43A2
krumm_15_ASD_discovery_cases-case12976.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
OVCA2,MIR132,MIR212,HIC1,DPH1,SMG6
krumm_15_ASD_discovery_cases-case14193.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
VPS53
krumm_15_ASD_discovery_cases-case14226.p1
Omni2.5-4v1
De novo
Simplex
Segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,CRK,SLC43A2,TLCD2,ABR
levy_11_ASD_discovery_cases-11098.p1
Paternal
Simplex
Not segregated
C17orf97,RPH3AL
maini_18_ASD/DD/ID_discovery_cases-case_unknown64
Unknown
Unknown
Unknown
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53,MRM3,NXN
nava_13_ASD_discovery_cases-Fam11112Proband10799
Paternal
Simplex
Unknown
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53
nguyen_13_DD/ID/MCA/ASD_discovery_cases-1350
Unknown
Unknown
Unknown
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-1350
De novo
Unknown
Possibly segregated
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249954
Unknown
Unknown
Unknown
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,RPH3AL,VPS53,MRM3,NXN,ABR
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249970
De novo
Unknown
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250378
De novo
Unknown
Possibly segregated
BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,OR1A2,OR1D4,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,OR1A1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253406
De novo
Unknown
Possibly segregated
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253729
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256528
Inherited from normal parent
Unknown
Unknown
MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256602
Unknown
Unknown
Unknown
OVCA2,MIR132,MIR212,HIC1,DPH1,RPA1,RTN4RL1,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-260489
Unknown
Unknown
Unknown
RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,SRR,TSR1,SGSM2,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC1378
FISH
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19242
FISH
Unknown
Unknown
Unknown
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53,MRM3,NXN
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC19939
FISH
Maternal
Unknown
Unknown
PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34811
FISH
De novo
Unknown
Possibly segregated
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,OR1D5,OR1E3,OR1G1,OR1P1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,OR1D2,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC35373
FISH
Maternal
Unknown
Unknown
OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,DPH1,RPA1,RTN4RL1,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC42676
FISH
Unknown
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC53342
FISH
Maternal (mosaic)
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,SRR,TSR1,MNT,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,SGSM2,METTL16,PAFAH1B1,ABR,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC65538
FISH
Maternal
Unknown
Unknown
MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,SRR,TSR1,SGSM2,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC67921
FISH
Unknown
Unknown
Unknown
OVCA2,MIR132,MIR212,HIC1,MCUR1P1,RN7SL624P,SMG6-IT1,HNRNPA1P16,SNORD91B,SNORD91A,RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,DPH1,SRR,TSR1,MNT,CLUH,CCDC92B,SGSM2,METTL16,PAFAH1B1,RAP1GAP2,SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient189
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient190
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient191
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient192
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient193
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient194
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient195
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient196
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient197
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient198
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient199
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient200
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient201
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient202
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient203
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient204
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient205
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient206
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient207
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient208
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient209
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient210
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient211
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient212
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG6
nord_11_ASD_discovery_cases-214-1
Maternal
METT10D,LOC284009
nord_11_ASD_discovery_cases-214-1
Maternal
BHLHA9,TUSC5,YWHAE
o'roak_12_ASD_discovery_cases-case13335.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
GLOD4,MRM3
pham_14_ASD/DD/EP/ID_discovery_cases-case48
FISH and/or chromosome analysis
De novo
Unknown
Unknown
RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,OVCA2,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR
pinto_10_ASD_discovery_cases-case5082_4
Agilent1M
maternal
NA
NA
RTN4RL1
pinto_10_ASD_discovery_cases-case5382_3
Agilent1M
paternal
NA
NA
TRPV1,SHPK,CTNS
pinto_14_ASD_discovery_cases2-case6413_4
qPCR
Maternal
Simplex
no CNV in unaffected sib
SERPINF1,SMYD4
pinto_14_ASD_discovery_cases2-case8703_201
qPCR
Possibly paternal
Paternal
Simplex
Segregated (no CNV in unaffected sibling)
BHLHA9,TRARG1,YWHAE
poultney_13_ASD_discovery_cases-case00HI1581A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SMYD4,RPA1
poultney_13_ASD_discovery_cases-case05HI3825A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
C17orf97,RFLNB,RPH3AL
poultney_13_ASD_discovery_cases-case05HI4559A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TRARG1,YWHAE
poultney_13_ASD_discovery_cases-case05HI4559A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FAM57A,GEMIN4,DBIL5P,GLOD4,MRM3,NXN
prasad_12_ASD_discovery_cases-case115728L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case146446L
Unknown
Unknown
Unknown
RNMTL1,FAM57A,GLOD4,GEMIN4,DBIL5P,VPS53,NXN
prasad_12_ASD_discovery_cases-case47828
Unknown
Unknown
Unknown
VPS53
prasad_12_ASD_discovery_cases-case50800L
qPCR
Maternal
Unknown
Unknown
YWHAE
prasad_12_ASD_discovery_cases-case59838
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case63167L
Unknown
Unknown
Unknown
RTN4RL1
prasad_12_ASD_discovery_cases-case68672
qPCR
Maternal
Unknown
Unknown
YWHAE
prasad_12_ASD_discovery_cases-case92174L
Unknown
Unknown
Unknown
RAP1GAP2
qiao_12_ASD_discovery_cases-case10-08A
QMPSF
De novo
Simplex
Likely segregated
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53,FAM57A,GEMIN4
quintela_17_DD/ID_discovery_cases-caseID_27
Unknown
Unknown
LINC02091,DOC2B,RPH3AL
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase21
BACs aCGH or FISH
Unknown
Unknown
Unknown
RN7SL105P,RILP,PITPNA,SCARF1,PRPF8,SLC43A2
rosenfeld_10_ASD_discovery_cases-case19939
FISH
Maternal
Unknown
Unknown
YWHAE,CRK,MYO1C,INPP5K,PITPNA,SLC43A2,SCARF1,RILP,PRPF8,TLCD2,WDR81,SERPINF2,SERPINF1,SMYD4,RPA1,RTN4RL1,DPH1,OVCA2,HIC1,SMG6
rosenfeld_10_ASD_discovery_cases-case23295
FISH
Unknown
Unknown
Unknown
RPH3AL,LOC100506388,C17orf97,FAM101B,VPS53
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-340
qPCR
Paternal
Unknown
Unknown
OR1E3,OR1G1,OR1P1,OR1D2
sanders_11_ASD_discovery_cases-11004.p1
Maternal
Simplex (quad-proband matched)
Segregated
RPA1
sanders_11_ASD_discovery_cases-11054.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAP1GAP2
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
C17orf97,RPH3AL
sanders_11_ASD_discovery_cases-11206.p1
Unknown
Simplex (quad-proband matched)
Segregated
RTN4RL1
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
YWHAE
sanders_11_ASD_discovery_cases-11296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SMG6
sanders_11_ASD_discovery_cases-11347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SHPK,CTNS
sanders_11_ASD_discovery_cases-11412.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RAP1GAP2
sanders_11_ASD_discovery_cases-11433.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11453.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11456.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11501.p1
Unknown
Simplex (quad-proband matched)
Segregated
ABR
sanders_11_ASD_discovery_cases-11510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAP1GAP2
sanders_11_ASD_discovery_cases-11526.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11532.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TRPV1,SHPK,CTNS
sanders_11_ASD_discovery_cases-11714.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11893.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11914.p1
Maternal
Simplex (trio)
NA
RAP1GAP2
sanders_11_ASD_discovery_cases-11920.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-11946.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NXN
sanders_11_ASD_discovery_cases-12083.p1
Unknown
Simplex (quad-proband matched)
Not segregated
NXN
sanders_11_ASD_discovery_cases-12149.p1
Paternal
Simplex (trio)
NA
ABR
sanders_11_ASD_discovery_cases-12347.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-12358.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAP1GAP2
sanders_11_ASD_discovery_cases-12430.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ABR
sanders_11_ASD_discovery_cases-12578.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02091,DOC2B
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OR3A2
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
OVCA2,MIR132,MIR212,HIC1,DPH1,SMG6
sanders_11_ASD_discovery_cases-13001.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPH3AL
sanders_11_ASD_discovery_cases-13067.p1
Maternal
Simplex (trio)
NA
TRPV1,SHPK,CTNS
spataro_23_ASD/DD/ID_discovery_cases-case76
MLPA or aCGH
De novo
PAFAH1B1,RN7SL608P
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_1
Unknown
Multiplex
Segregated (CNV present in both affected twins)
TRARG1
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_2
Unknown
Multiplex
Segregated (CNV present in both affected twins)
TRARG1,YWHAE
trakadis_21_NDD/NPD_discovery_cases-case9
Unknown
CRK,INPP5K,SLC43A2,MYO1C,PITPNA-AS1,PITPNA,YWHAE
vazna_08_ASD_discovery_cases-case1
long-range PCR, microsatellite analysis
De novo, parental chromosome
Unknown
Possibly segregated
LINC02091,RPS4XP17,MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,RILP,MIR22HG,MIR22,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,SCARF1,PRPF8,WDR81,SERPINF2,SERPINF1,SMYD4,DPH1,RPH3AL,VPS53,MRM3,NXN,CRK,SLC43A2,TLCD2,RPA1,RTN4RL1,ABR
vazna_08_ASD_discovery_cases-case1
microsatellite analysis
De novo, parental chromosome
Unknown
Possibly segregated
DPH1,OVCA2
verberne_22_ASD/DD/ID_discovery_cases-case249
Unknown
PAFAH1B1
yap_21_ASD_discovery_cases-case1101366
Unknown
Multiplex
CRK,TRARG1,YWHAE
yin_16_ASD_discovery_cases-case509
Unknown
Unknown
Unknown
VPS53
yin_16_ASD_discovery_cases-case510
Unknown
Unknown
Unknown
MIR3183,BHLHA9,PITPNA-AS1,RN7SL105P,TIMM22,TRARG1,YWHAE,MYO1C,INPP5K,PITPNA,NXN,CRK,SLC43A2,ABR
yin_16_ASD_discovery_cases-case511
Unknown
Unknown
Unknown
OR1D3P,OR3A2
yuan_15_DD_discovery_cases-caseBAB2337
FISH
De novo
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,RPH3AL,VPS53
yuan_15_DD_discovery_cases-caseBAB6967
Unknown
OR1D5,RAP1GAP2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chen_17_ASD_discovery_controls1-control20
Unknown
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
chen_17_ASD_discovery_controls1-control21
Unknown
RPS4XP17,C17orf97,RFLNB,RPH3AL,VPS53
coe_14_ASD/DD/ID_discovery_controls-control37
Unknown
RPS4XP17,MIR3183,BHLHA9,FAM57A,GEMIN4,DBIL5P,GLOD4,TIMM22,TRARG1,YWHAE,VPS53,MRM3,NXN,CRK,ABR
coe_14_ASD/DD/ID_discovery_controls-control38
Unknown
RN7SL33P,EIF4A1P9,SAMD11P1,RN7SL608P,MIR6776,MIR1253,CLUH,CCDC92B,METTL16,PAFAH1B1,RAP1GAP2
engchuan_15_ASD_discovery_controls-control110036019032_r
Unknown
BHLHA9,TRARG1
engchuan_15_ASD_discovery_controls-controlB300185_1007874654
Unknown
NXN
engchuan_15_ASD_discovery_controls-controlB436454_1007874592
Unknown
LINC02091,DOC2B,RPH3AL
engchuan_15_ASD_discovery_controls-controlB618029_1007874552
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
Unknown
MIR3183,TIMM22,NXN,ABR
engchuan_15_ASD_discovery_controls-controlB683658_1007841022
Unknown
RPS4XP17,FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3,NXN
engchuan_15_ASD_discovery_controls-controlB797182_0057061058
Unknown
LINC02091,DOC2B,RPH3AL
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlB826365_0057060991
Unknown
MIR3183,TIMM22,NXN,ABR
engchuan_15_ASD_discovery_controls-controlB835590_0057060979
Unknown
LINC02091,RPH3AL
engchuan_15_ASD_discovery_controls-controlB839667_1007852937
Unknown
ABR
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlB926040_1007875245
Unknown
NXN
engchuan_15_ASD_discovery_controls-controlHABC_900017_900017
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
Unknown
NXN
engchuan_15_ASD_discovery_controls-controlHABC_900457_900457
Unknown
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,RPH3AL,VPS53,MRM3,NXN
engchuan_15_ASD_discovery_controls-controlHABC_900465_900465
Unknown
RPS4XP17,C17orf97,RFLNB,VPS53
engchuan_15_ASD_discovery_controls-controlHABC_900517_900517
Unknown
NXN
engchuan_15_ASD_discovery_controls-controlHABC_900625_900625
Unknown
NXN
engchuan_15_ASD_discovery_controls-controlHABC_900927_900927
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlHABC_900953_900953
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
Unknown
OR3A3
engchuan_15_ASD_discovery_controls-controlHABC_902459_902459
Unknown
TRPV1,SHPK
engchuan_15_ASD_discovery_controls-controlHABC_902532_902532
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlHABC_902656_902656
Unknown
TRPV1,SHPK,CTNS
engchuan_15_ASD_discovery_controls-controlHABC_902835_902835
Unknown
TIMM22,NXN,ABR
girirajan_12_ASD/DD/ID_discovery_controls-control103
NA
Unknown
Unknown
Unknown
TRARG1,YWHAE
krumm_13_ASD_discovery_controls-control13165.s1
Paternal
Simplex
RPS4XP17,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3,NXN
krumm_13_ASD_discovery_controls-control13263.s1
Maternal
Simplex
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,RPH3AL,VPS53
krumm_13_ASD_discovery_controls-control13335.s1
Paternal
Simplex
GLOD4,MRM3
krumm_13_ASD_discovery_controls-control13599.s1
Maternal
Simplex
GLOD4,MRM3
krumm_15_ASD_discovery_controls-control11941.s1
Illumina 1MDuo
Paternal
RPS4XP17,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3,NXN
krumm_15_ASD_discovery_controls-control12976.s1
Illumina 1MDuo
Maternal
OVCA2,MIR132,MIR212,HIC1,DPH1,SMG6
krumm_15_ASD_discovery_controls-control13165.s1
1M-Duov3
Paternal
RPS4XP17,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3,NXN
krumm_15_ASD_discovery_controls-control13263.s1
1M-Duov3
Maternal
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,RPH3AL,VPS53
krumm_15_ASD_discovery_controls-control14227.s1
Omni2.5-4v1
Paternal
LINC02091,RPS4XP17,DOC2B,C17orf97,RFLNB,FAM57A,RPH3AL,VPS53
levy_11_ASD_discovery_controls-11098.s1
Paternal
Simplex
NA
C17orf97,RPH3AL
levy_11_ASD_discovery_controls-11941.s1
Paternal
Simplex
NA
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,DBIL5P,GLOD4,VPS53,MRM3,NXN
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control40
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control41
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control42
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control43
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control44
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control45
Unknown
Unknown
Minimum CNV gene content: SMG6
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control46
Unknown
Unknown
Minimum CNV gene content: SMG6
nord_11_ASD_discovery_controls-04C28078
0 genes
poultney_13_ASD_discovery_controls-control04C36033A
Unknown
PITPNA-AS1,MYO1C,INPP5K,PITPNA
sanders_11_ASD_discovery_controls-11054.s1
Maternal
Simplex (quad)
NA
RAP1GAP2
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
GLOD4,MRM3,NXN
sanders_11_ASD_discovery_controls-11090.s1
Maternal
Simplex (quad)
NA
RPH3AL
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
C17orf97,RPH3AL
sanders_11_ASD_discovery_controls-11124.s1
Paternal
Simplex (quad)
NA
TRPV1,SHPK,CTNS
sanders_11_ASD_discovery_controls-11200.s1
Maternal
Simplex (quad)
NA
RAP1GAP2
sanders_11_ASD_discovery_controls-11201.s1
Paternal
Simplex (quad)
NA
RAP1GAP2
sanders_11_ASD_discovery_controls-11233.s1
Paternal
Simplex (quad)
NA
YWHAE
sanders_11_ASD_discovery_controls-11285.s1
Maternal
Simplex (quad)
NA
TRPV1,SHPK,CTNS
sanders_11_ASD_discovery_controls-11433.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-11532.s1
Maternal
Simplex (quad)
NA
TRPV1,SHPK,CTNS
sanders_11_ASD_discovery_controls-11694.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-11793.s1
Paternal
Simplex (quad)
NA
RAP1GAP2
sanders_11_ASD_discovery_controls-11810.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-11909.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-11933.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
GEMIN4,DBIL5P,GLOD4,MRM3,NXN
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
RPS4XP17,C17orf97,RFLNB,FAM57A,GEMIN4,VPS53
sanders_11_ASD_discovery_controls-12091.s1
Maternal
Simplex (quad)
NA
SHPK,CTNS
sanders_11_ASD_discovery_controls-12212.s1
Maternal
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-12220.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-12430.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-12621.s1
Paternal
Simplex (quad)
NA
NXN
sanders_11_ASD_discovery_controls-12695.s1
Maternal
Simplex (quad)
NA
OR3A2
sanders_11_ASD_discovery_controls-12944.s1
Both parents
Simplex (quad)
NA
ABR
sanders_11_ASD_discovery_controls-12976.s1
Maternal
Simplex (quad)
NA
OVCA2,MIR132,MIR212,HIC1,DPH1,SMG6
sanders_11_ASD_discovery_controls-13196.s1
Paternal
Simplex (quad)
NA
TRPV1
No Animal Model Data Available