22q13.31-q13.33CNV Type: Deletion-Duplication
Largest CNV size: 45144027 bp
Statistics Box:
Number of Reports: 33
Number of Reports: 33
Summary Information
Deletions that span from the 22q13.31 locus to the 22q13.33 locus have been detected in individuals with ASD in several reports. These deletions are typically either adjacent to or include the 5' end of the SHANK3 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Strong association of de novo copy number mutations with autism.
Deletion
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Deletion
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Deletion
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Deletion
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
3261921
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
4904351
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
3383790
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
4423082
1
0
1
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
3480000
2
0
2
gorker_17_PHMDS_discovery_cases
Only child of parents with no history of mental disorder or genetic illness who had originally been diagnosed with ASD
1
Case diagnosed with Phelan-McDermid syndrome (PHMDS) following clinical examination and detection of a de novo 22q13.33 deletion; case presented with mild intellectual disability, behavioral abnormalities (irritability, aggression), and dysmorphic features, but no autistic features
9 years
Female
4315178
1
0
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
4403293
1
0
1
guilherme_14_DD/EP/ASD_discovery_cases
Patients with deletions in ring chromosome 22
5
Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
Range, 1-24 yrs.
40% Male
3800000
1
0
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
2627381
1
0
1
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
4350000
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
5605854
0
2
2
huang_22_ASD/DD/ID_discovery_cases
Individual with a de novo 2q13.31-q13.33 microdeletion from a multiplex family recruited into a molecular genetic study series from Chang Gung Memorial Hospital-Linkou (Taoyuan, Taiwan).
1
Case diagnosed with severe intellectual disability and ASD at 4 years of age and also presented with global developmental delay (psychiatric diagnoses followed DSM-5 criteria).
26 yrs.
Female
3710055
1
0
1
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
5448319
1
0
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
6804404
10
2
12
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2883357
1
0
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
5458762
1
0
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
6140487
4
0
4
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
4500000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
3231700
1
0
1
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
3868755
0
1
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
4400000
2
0
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
6782520
1
0
1
palumbo_17_DD/ID/ASD/EP_discovery_cases
Cases with 22q13.31 microdeletions (1 previously unreported case, 14 cases from the DECIPHER database)
15
13/15 cases with 22q13.31 microdeletions presented with developmental delay/intellectual disability (DD/ID); 3 cases presented with autism, 3 cases presented with seizures
N/A
60.0% Male
6950000
12
0
12
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
4423083
1
0
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
3022975
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
4684634
1
0
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
5901000
1
1
2
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
4321856
1
0
1
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
4407000
1
0
1
soorya_13_ASD/ID_discovery_cases
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
32
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Range, 1.6-45.4 yrs. (mean 8.8, SD 9.2)
56.25% Male
6902568
10
0
10
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
3294917
1
0
1
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
4270284
1
0
1
xu_20_DD/ID_discovery_cases
Patients with clinical and genetic diagnosis of Phelan-McDermid syndrome from the China League of PMS Rare Disease recruited from 2018 to 2020 with 22q13.33 deletions
20
Cases diagnosed with Phelan-McDermid syndrome and presented with developmental delay/intellectual disability, behavioral abnormalities, and/or seizures
Range, 1.4-7.3 yrs.
60.00% Male
5942486
6
0
6
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
4403293
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
moessner_07_ASD_discovery_controls
European controls and HapMap sample controls
500
controls
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
4321856
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
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
None
gorker_17_PHMDS_discovery_cases
Turkey
MLPA
P373-B1 MLPA (MRC-Holland) probe mix
FISH, aCGH
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guilherme_14_DD/EP/ASD_discovery_cases
Brazil
Karyotyping, solid phase hybridization, array SNP
Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.3
FISH
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
huang_22_ASD/DD/ID_discovery_cases
Taiwan
Array SNP
Affymetrix CytoScan HD
NA
Affymetrix ChAS v.3.3.0.139
qRT-PCR
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
qPCR, FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
palumbo_17_DD/ID/ASD/EP_discovery_cases
N/A
Array SNP, N/A
Affymetrix CytoScan HD, N/A
HMM
Affymetrix ChAS v3.1
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
shin_15_ASD/DD/ID_discovery_cases
Korean
MLPA
SALSA MLPA P245 Microdeletion Syndromes probemix
GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Array SNP (Affymetrix CytoScan 750K)
soorya_13_ASD/ID_discovery_cases
Caucasian
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Affymetrix 6.0
MLPA, solid phase hybridization (Illumina Omni 2.5-8 v1)
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
xu_20_DD/ID_discovery_cases
China
aCGH, array SNP, MLPA, qPCR, WES
NA
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
moessner_07_ASD_discovery_controls
Array SNP
Affymetrix 500K
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chan_22_ASD_discovery_cases-case3-0039-000
NA
F
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: single umbilical artery and submucous cleft palate with bifid uvula noted at birth. Developmental milestones: global developmental delay with sitting at 13 months and walking at 17 months. Language and communication evaluation: 50-word vocabulary and poorly intelligible speech at 17 years. Motor and musculoskeletal evaluation: generalized joint laxity, pes planovalgus. EEG: generalized slowing at 6 years. Brain imaging: enlarged cisterna magna. Growth parameters: obesity from 12 years of age. Family history: her father carries a balanced translocation between chr22:47,939,495-qterdelins and chr14:105,759,220-qter (22q13.31-q13.33 deletion occurred due to this balanced translocation).
47543652
50805572
3261921
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case181
N/A
F
Developmental delay
Slender build, hypotonia, convulsions, developmental delay, and facial dysmorphism
45772748
50677098
4904351
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case594
F
ASD and intellectual disability
ASD, congenital anomalies and facial dysmorphism. Karyotype: 46,XX, add(22)(q13).
Intellectual disability
47375549
50759338
3383790
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2072_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
46384624
50796973
4412350
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13119.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
47295586
50774706
3479121
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-14232.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
47795587
50784706
2989120
GRCh38
Deletion
No
gorker_17_PHMDS_discovery_cases-case1
9 yrs.
F
Phelan-McDermid syndrome (PHMDS)
Birth/neonatal history: born by spontaneous delivery; birth weight of 2850 g, birth length of 50 cm; neonatal hypotonia. Developmental milestones: delayed speech and language development; sat up at 10 monhts, walked at 16 months. Language and communication evaluation: speech problems. Behavioral/psychiatric evaluation: case had previously been diagnosed with ASD, but at present no autistic findings; head banging behavior betwen 7 months and 1 year; irritability and aggressive behavior (treated with risperidone). Dysmorphic features: rounded face, pointed chin. Family history: only child; no history of mental disorder or genetic illness in her parents.
Mild intellectual disability; intelligence test could not be performed due to speech problems
46467189
50739836
4272648
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case3524
NA
NA
ASD/autism
NA
NA
46384625
50777185
4392561
GRCh38
Deletion
Yes
guilherme_14_DD/EP/ASD_discovery_cases-case4
12 yrs.
F
Developmental delay
Birth/neonatal history: uneventful pregnancy; delivery at 41 weeks by C-section; birth weight of 3590 g(50th-75th %ile), birth length of 51 cm (50th-75th %ile), and head circumference of 34 cm (50th %ile); neonatal jaundice, discharged on second day of life. Developmental milestones: moderate-to-severe delay in neuropsychomotor development that resulted in referral for special school. Motor and musculoskeletal evaluation: clinodactyly. EEG: within normal range. Brain imaging: head CT within normal ranges. Other features: spontaneous menarche at age of 11 years, with hypermenorrhea in following year. Dysmorphic features: long face with high forehead and high harline (similar to mother), prominent supraorbital ridge, upslanting palpebral fissures, convergent squint on the right, micrognathia, short philtrum, full lips, cutis marmorata. Growth parameters: weight of 28.2 kg (10th-25th %ile), height of 132 cm (10th %ile), and head circumference of 49.5 cm (2nd %ile) at age of 10 years. Family history: second child of healthy non-consanguineous parents with unremarkable family history.
47315942
51215613
3800000
Unknown
Deletion
Yes
guo_17_ASD_discovery_cases-caseM16087
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
48096728
50713296
2616569
GRCh38
Deletion
Yes
guo_19_DD/ID_discovery_cases-case32
32 mos.
M
Hypotonia and motor deterioration
Abnormality of the globe, abnormal stereopsis, motor deterioration, periventricular leukomalacia, obtundation status, cerebral palsy, abnormal homeostasis, hyperbilirubinemia, abnormality of the respiratory system, pneumonitis, abnormality of the immune system, hypotonia, difficulty walking, abnormality of the digestive system, jaundice
46398535
50701350
4302816
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D2191
1 yr. 10 mos.
M
Developmental delay
Facial dysmorphism, speech delay
45100666
50706519
5605854
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D2195
12 mos. 28 days
F
Developmental delay
45100667
50657127
5556461
GRCh38
Duplication
No
huang_22_ASD/DD/ID_discovery_cases-caseHCG766
26 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born full-term without remarkable events. Developmental milestones: global developmental delay with lack of language development. Language and communication evaluation: absent speech (non-verbal). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: diagnosis of ASD at age of 4 years; poor social function and self-care capability; mood instability with irritability and agitation at 21 years. Family history: born to parents with no history of psychiatric disorders; her older brother was diagnosed with moderate intellectual disability, ASD, and schizophrenia and presented with shyness, poor interpersonal and social interactions as a child, psychotic symptoms (agitation, irritability, temper tantrums, aggressive behavior, self-talking, and self-laughing) at 23 years, catatonia, and progressively deteriorating mental conditions and social function (the 22q13.31-q13.33 deletion was not observed in either parent or her affected brother).
Severe intellectual disability
47049243
50759297
3710055
GRCh38
Deletion
Yes
hu_22_ASD_discovery_cases-case23
NA
F
ASD
Case met criteria for ASD using DSM-5.
45284980
50733298
5448319
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47705262
50739836
3034575
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000926
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45239376
50739836
5500461
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001050
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46065705
50739836
4674132
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47122613
50739836
3617224
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002162
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44740175
50739836
5999662
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45648256
50739836
5091581
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004030
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
43993654
50739977
6746324
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004154
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44811200
50739836
5928637
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004315
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47705262
50739836
3034575
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005095
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
44700812
50739836
6039025
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
48138038
50739836
2601799
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005437
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47234701
50739836
3505136
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14232.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
47941616
50782294
2840679
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseD872
NA
F
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
45280739
50739500
5458762
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case175
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
47826295
50723631
2897337
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case176
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
46553124
50714943
4161820
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case198
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
46084721
50695152
4610432
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case202
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
44289098
50429584
6140487
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown129
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 pathogenic
46275331
50739836
4464506
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0039-000
NA
F
ASD
Severe language delay, moderate dysmorphism, hypotonia
LOF<40
47561132
50780528
3219397
GRCh38
Deletion
Yes
miyake_23_ASD_discovery_cases-case8397
NA
M
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
46912003
50780757
3868755
GRCh38
Duplication
Yes
moessner_07_ASD_discovery_cases-case2
NA
F
ASD
Primarily uses nonverbal communication, aversion to physical contact and eye contact, self-stimulatory behavior
Global developmental delay; IQ<50
47561132
50780528
3219397
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249912
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
44066166
50806138
6739973
GRCh38
Deletion
N/A
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER1016
N/A
F
Developmental delay/intellectual disability
Delayed speech and language development, hypotonia, abnormality of the face
Developmental delay/intellectual disability
45178343
50806138
5627796
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER250072
N/A
M
Developmental delay/intellectual disability and autism
Autism, renal dysplasia
Developmental delay/intellectual disability
43827591
50739836
6912246
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER254458
N/A
M
Developmental delay/intellectual disability
Visual impairment, hydronephrosis, abnormality of the esophagus
Developmental delay/intellectual disability
45142571
50782495
5639925
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER257964
N/A
M
Developmental delay/intellectual disability and autism
Delayed speech and language development, autism
Developmental delay/intellectual disability
46197551
50782495
4584945
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER275023
N/A
F
Developmental delay/intellectual disability
Nystagmus, strabismus, distal arthrogryposis, metatarsus adductus
Developmental delay/intellectual disability
46052667
50739896
4687230
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER275045
N/A
M
Developmental delay/intellectual disability and epilepsy/seizures
Delayed speech and language development, aggressive behavior, hyperactivity, hypotonia, seizures
Developmental delay/intellectual disability
44339620
50730617
6390998
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER277232
N/A
M
Developmental delay/intellectual disability
Large fleshy ears, coloboma, dilatation of the renal pelvis, deep-set nails, large hands, long foot, patent foramen ovale
Developmental delay/intellectual disability
44606392
50739807
6133416
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER282753
N/A
M
Hypotonia
Hypotonia, plagiocephaly, hypospadias, ventriculomegaly
44776577
50739836
5963260
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER306150
N/A
F
Developmental delay/intellectual disability
delayed speech and language development, abnormal fear/anxiety, urinary incontinence, bowel incontinence
Developmental delay/intellectual disability
44203631
50627834
6424204
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER328431
N/A
F
Developmental delay/intellectual disability
Hypotonia, macrocephaly
Developmental delay/intellectual disability
45772748
50677098
4904351
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER331021
N/A
F
Developmental delay/intellectual disability
Abnormality of the face
Developmental delay/intellectual disability
44109437
50782495
6673059
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER333097
N/A
M
Developmental delay/intellectual disability and epilepsy/seizures
Seizures
Developmental delay/intellectual disability
46592965
50739836
4146872
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case2072_1
N/A
M
ASD
Autism (meets ADI-R and ADOS criteria), nonverbal, hyperactivity and attention deficits, treated with methylphenidate and risperidone, aggressiveness, self-injurious behavior, seizure disorder, normal head circumference, normal brain CT scan. Family history: both parents unaffected; deletion also present in sister with autism (meets ADI-R and ADOS criteria), ID (unable to perform any of the tasks of the Differential Ability Scales), has only a few single words, normal EEG (reported in Sebat et al. 2007, subject 89-3524-100; Moessner et al. 2007, family 3524).
ID (Bayley Scale of Infant Development-II, mental developmental index 50, mental processing index 32)
46384624
50796973
4412350
GRCh38
Deletion
Yes
quintela_17_DD/ID_discovery_cases-caseID_350
12 yrs.
M
Intellectual disability
Disruptive behaviors
Intellectual disability
47765147
50745442
2980296
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case10665
NA
NA
ASD
NA
NA
44865221
49549855
4684634
Unknown
Deletion
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case6
15 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
44881157
50739836
5858680
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case75
3 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
46532311
50739836
4207526
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-89-3524-100
NA
F
Autism
NA
NA
45144027
49465883
45144027
Unknown
Deletion
Yes
shin_15_ASD/DD/ID_discovery_cases-case7
2 yrs.
M
Developmental delay
Developmental delay, torticollis, pes planovalgus, unilateral deafness (right side), downslanting palpebral fissures
46394152
50759338
4365187
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH15
1.7
F
ASD and intellectual disability
DSM-IV and confirmed diagnosis of ASD. ADI-R scores: A (social), 14; B (communication), 11; C (RRBIS), 0. ADOS-G Module 1 scores: communication total, 2; social total, 9; communication + social, 11; RRBI, 0; severity score, 4. VABS-II scores: ABC, 69; communication, 71; socialization, 90; daily living, 65; motor, 65. Clinical profile and medical comorbidities: repetitive behavior, hypotonia, constipation/diarrhea, lymphedema, lymphagiectasia. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, epicanthal folds, macrocephaly, high arched palate, hyperextensibility, pointed chin, wide nasal bridge, malocclusion/wide spaced teeth.
Moderate ID; non-verbal IQ 39.6
45506239
50785780
5279542
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH17
12.2
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 22; B (communication), 13; C (RRBIS), 8. ADOS-G Module 1 scores: communication total, 7; social total, 9; communication + social, 16; RRBI, 2; severity score, 6. VABS-II scores: ABC, 38; communication, 36; socialization, 38; daily living, 47; motor, 56. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, aggression, sleep disturbances, febrile seizures, renal abnormalities, food allergies, strabismus. Dysmorphic features: large fleshy hands, full lips, macrocephaly.
Profound ID; non-verbal IQ 11.6
45188054
50785780
5597727
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH21
3.8
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 25; B (communication), 14; C (RRBIS), 8. ADOS-G Module 1 scores: communication total, 4; social total, 14; communication + social, 18; RRBI, 1; severity score, 7. VABS-II scores: ABC, 46; communication, 40; socialization, 57; daily living, 46; motor, 49. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, seizures, febrile seizures, renal abnormalities. Dysmorphic features: bulbous nose, macrocephaly, dolichocephaly, high arched palate, periorbital fullness, pointed chin, syndactyly of toes 2-3, malar hypoplasia, ptosis.
Severe ID; non-verbal IQ 26.67
45032725
50785780
5753056
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH22
6.2
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 30; B (communication), 14; C (RRBIS), 6. ADOS-G Module 1 scores: communication total, 6; social total, 13; communication + social, 19; RRBI, 3; severity score, 8. VABS-II scores: ABC, 38; communication, 36; socialization, 42; daily living, 34; motor, 43. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, recurring URTIs, constipation/diarrhea, febrile seizures, renal abnormalities, lymphedema. Dysmorphic features: large fleshy hands, bulbous nose, long eyelashes, pointed chin, sacral dimple.
Profound ID; non-verbal IQ 8.06
44404134
50785780
6381647
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH25
45.4
M
ASD
DSM-IV and confirmed diagnosis of ASD. ADI-R scores: A (social), 18; B (communication), 13; C (RRBIS), 2. ADOS-G Module 1 scores: communication total, 2; social total, 9; communication + social, 11; RRBI, 1; severity score, 5. VABS-II scores: ABC, 20; communication, 21; socialization, 20; daily living, 21; motor, 22. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, aggression, lymphedema, hypertrichosis. Dysmorphic features: long eyelashes, dolichocephaly, high arched palate, abnormal spine curvature, long philtrum, malocclusion/wide spaced teeth.
Non-verbal IQ N/A
46391537
50785780
4394244
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH28
1.9
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), n/a; B (communication), n/a; C (RRBIS), n/a. ADOS-G Module 1 scores: communication total, 5; social total, 8; communication + social, 13; RRBI, 3; severity score, 5. VABS-II scores: ABC, 62; communication, 62; socialization, 73; daily living, 65; motor, 61. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, GERD, sleep disturbances, febrile seizures, renal abnormalities, lymphedema. Dysmorphic features: long eyelashes, macrocephaly, full cheeks, hypertelorism, sacral dimple.
Moderate ID; non-verbal IQ 42.02
45309360
50785780
5476421
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH4
7
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 28; B (communication), 14; C (RRBIS), 2. ADOS-G Module 1 scores: communication total, 5; social total, 10; communication + social, 15; RRBI, 1; severity score, 6. VABS-II scores: ABC, 48; communication, 45; socialization, 50; daily living, 50; motor, 51. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, aggression, GERD, constipation/diarrhea, seizures, renal abnormalities, recurring cellulitis, esophageal yeast overgrowth. Dysmorphic features: long eyelashes, epicanthal folds, macrocephaly, high arched palate, pointed chin, deep set eyes.
Profound ID; non-verbal IQ 14.39
43925761
50785780
6860020
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH5
1.7
M
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 7; B (communication), 10; C (RRBIS), 3. ADOS-G Module 1 scores: communication total, 6; social total, 12; communication + social, 18; RRBI, 0; severity score, 6. VABS-II scores: ABC, 79; communication, 90; socialization, 98; daily living, 75; motor, 65. Clinical profile and medical comorbidities: repetitive behavior, hypotonia, recurring URTIs, seasonal allergies. Dysmorphic features: large fleshy hands, bulbous nose, ear anomalies, full lips, full cheeks, periorbital fullness, wide nasal bridge, long philtrum, accelerated growth.
Severe ID; non-verbal IQ 25.25
45747591
50785780
5038190
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH6
2.8
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 19; B (communication), 13; C (RRBIS), 1. ADOS-G Module 1 scores: communication total, 7; social total, 14; communication + social, 21; RRBI, 1; severity score, 7. VABS-II scores: ABC, 58; communication, 54; socialization, 66; daily living, 60; motor, 61. Clinical profile and medical comorbidities: repetitive behavior, hypotonia, aggression, GERD, constipation/diarrhea, renal abnormalities. Dysmorphic features: large fleshy hands, bulbous nose, hypoplastic/dysplastic nails, epicanthal folds, hyperextensibility, hypertelorism.
Severe ID; non-verbal IQ 23.46
44031823
50785780
6753958
GRCh38
Deletion
Yes
soorya_13_ASD/ID_discovery_cases-SH7
6.8
F
Autism and intellectual disability
DSM-IV and confirmed diagnosis of autism. ADI-R scores: A (social), 23; B (communication), 13; C (RRBIS), 1. ADOS-G Module 1 scores: communication total, 3; social total, 8; communication + social, 11; RRBI, 1; severity score, 6. VABS-II scores: ABC, 60; communication, 52; socialization, 75; daily living, 66; motor, 59. Clinical profile and medical comorbidities: repetitive behavior, pain insensitivity, hypotonia, hyperactivity, recurring URTIs, seizures. Dysmorphic features: large fleshy hands, bulbous nose, hypoplastic/dysplastic nails, full cheeks, periorbital fullness, sacral dimple.
Severe ID; non-verbal IQ 24.57
46509636
50785780
4276145
GRCh38
Deletion
Yes
tammimies_15_ASD_discovery_cases-case3-0039-000
N/A
F
ASD
Submucous cleft palate, single umbilical artery, enlarged cisterna magna. Dysmorphic features: ear contour abnormality, macrocephaly, low frontal hairline, small hands with distally tapered fingers.
47543790
50796027
3252238
GRCh38
Deletion
No
werling_19_ASD_discovery_cases-caseA10W
14 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.0); diagnosis confirmed using either ADOS or ADI-R (ADOS score 15; ADI-R A/B/C/D scores 16/18/11/5). Behavioral/psychiatric evaluation: aggressive behavior, impulsivity.
IQ score 115 (K-ABC)
46489127
50759410
4270284
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case17
6.4 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: born 40.3 weeks gestation; birth weight 3.35 kg, birth length 50 cm. Developmental milestones: raised head at 3 months, delayed ability to sit (10 months), delayed ability to walk (22 months), delayed ability to stand (20 months); severe gross motor delay, extremely severe language delay (single words at 6.5 years). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: pica, repetitive behaviors, impulsivity, aggressive behavior. Additional medical history: overheating or turning red easily, chewing difficulties, allergies. Growth parameters: microcephaly (OFC 1st %ile), weight 23 kg (25th %ile), height 117 cm (50th %ile).
Severe intellectual disability
47090435
50745412
3654978
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case18
2.2 yrs.
M
Developmental delay
Birth/neonatal history: born 37.3 weeks gestation; birth weight 2.9 kg, birth length 50 cm. Developmental milestones: raised head at 3 months, sat independently at 8 months, stood independently at 14 months, delayed ability to walk (18 months); gross motor delay, fine motor delay, moderate language delay (single words at 2.1 years). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: biting (self or others), impulsivity. Brain imaging: arachnoid cyst. Growth parameters: weight 14 kg (37th %ile), height 94 cm (25th %ile) (OFC not known).
47705003
50738734
3033732
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case3
5.5 yrs.
M
Developmental delay, intellectual disability, and seizures
Birth/neonatal history: born at 37.7 weeks gestation; birth weight 3 kg, birth length 48 cm. Developmental milestones: delayed ability to sit (sat independently at 19 months), delayed ability to walk (walked independently at 33 months), raised head at 3 months, standing independently at 16 months; mild language delay (absent speech), mild gross motor delay, mild fine motor delay. Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: biting (self or others), excessive screaming, non-stop crying, self-injurious behavior, repetitive behaviors, impulsivity, aggressive behavior. Epilepsy/seizures: seizures. EEG: abnormal. Brain imaging: thinning of the corpus callosum on brain MRI at 2 years. Additional medical history: increased pain tolerance, gastroesophageal reflux, renal abnormalities. Dysmorphic features: short philtrum, down-turned mouth. Growth parameters: weight 21 kg (60th %ile), OFC 52 cm (75th %ile), height 115 cm (50th %ile).
Mild intellectual disability
44797300
50739785
5942486
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case4
6.5 yrs.
F
Developmental delay
Birth/neonatal history: premature birth (born 35 weeks gestation); birth weight 2.5 kg, birth length 49 cm. Developmental milestones: sat independently at 7 months, raised head at 3 months, standing independently at 12 months, delayed ability to walk (23 months); gross motor delay, fine motor delay. Motor and musculoskeletal evaluation: gait abnormalities. Behavioral/psychiatric evaluation: impulsivity, sleep disturbance. Additional medical history: increased pain tolerance, chewing difficulties. Dysmorphic features: periorbital fullness, hypertelorism, wide nasal bridge, large/wide nose, thick lower lip. Growth parameters: microcephaly (OFC 48 cm; 1st %ile), weight 20 kg (25th %ile), height 115 cm (17th %ile).
46660658
50759338
4098681
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case6
1.8 yrs.
F
Developmental delay
Birth/neonatal history: born 39.4 weeks gestation; birth weight 2.7 kg, birth length 48 cm. Developmental milestones: raised head at 4 months, sat independently at 8 months, no words at current age; extremely severe gross motor delay, extremely severe fine motor delay. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: non-stop crying, repetitive behaviors, impulsivity, aggressive behavior. Additional medical history: sensitivity to touch, chewing difficulties, constipation, eczema. Dysmorphic features: sparse eyebrows, periorbital fullness, descending palpebral fissure, wide nasal bridge, large/wide nose, ear anomalies (preauricular fistula). Growth parameters: tall stature/accelerated growth (height 90 cm; 95th %ile), weight 12.6 kg (75th %ile), OFC 46 cm (60th %ile).
46219880
50739785
4519906
GRCh38
Deletion
No
xu_20_DD/ID_discovery_cases-case8
3.7 yrs.
M
Developmental delay and seizures
Birth/neonatal history: born 37 weeks gestation; birth weight 3 kg, birth length 52 cm. Developmental milestones: raised head at 8 months, delayed ability to sit (11 months), stood independently at 14 months, delayed ability to walk (27 months), language delay (no words at 3.7 years); developmental regression at 2 years (loss of speech and cognition, triggered by pneumonia). Motor and musculoskeletal evaluation: hypotonia, gait abnormalities. Behavioral/psychiatric evaluation: biting (self or others), excessive screaming, repetitive behaviors, impulsivity, sleep disturbance. Epilepsy/seizures: seizures. Brain imaging: thinning of the corpus callosum on brain MRI at 0.5 years, arachnoid cyst. Additional medical history: increased pain tolerance, immune deficiency, recurrent upper respiratory tract infections, allergies, ashtma, eczema. Growth parameters: weight 15 kg (17th %ile), OFC 52 cm (96th %ile), height 100 cm (25th %ile).
46292790
50782310
4489521
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chan_22_ASD_discovery_cases-case3-0039-000
RT-PCR, qPCR, or ddPCR
Paternal
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,LINC00898,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR3201,MIR4535,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,RABL2B,BRD1,TAFA5,PLXNB2,MLC1,MAPK8IP2
chaves_19_ASD/DD/ID_discovery_cases-case181
Unknown
LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
chaves_24_ASD/DD/ID_discovery_cases-case594
Unknown
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,LINC00898,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR3201,MIR4535,LINC01644,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,TAFA5,PLXNB2,MLC1,MAPK8IP2
engchuan_15_ASD_discovery_cases-case2072_1
De novo
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
girirajan_13a_ASD_discovery_cases-13119.p1
Unknown
Simplex
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
girirajan_13a_ASD_discovery_cases-14232.p1
Unknown
Simplex
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
gorker_17_PHMDS_discovery_cases-case1
FISH, aCGH
De novo
Simplex
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
griswold_12_ASD_discovery_cases-case3524
qPCR
De novo
Multiplex
Segregated
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
guilherme_14_DD/EP/ASD_discovery_cases-case4
FISH
De novo
Simplex
Segregated
TBC1D22A,FAM19A5,C22orf34,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR,RABL2B
guo_17_ASD_discovery_cases-caseM16087
qPCR
De novo
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
guo_19_DD/ID_discovery_cases-case32
De novo
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
han_22_ASD/DD/ID_discovery_cases-case16D2191
Unknown
ARSA,CHKB,FBLN1,CPT1B,TYMP,SMC1B,GTSE1,NCAPH2,TRMU,MIOX,TTC38,MOV10L1,PRR34,FAM118A,PANX2,CRELD2,CERK,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,PRR34-AS1,CDPF1,GTSE1-DT,TTLL8,CHKB-CPT1B,MIR3667HG,LINC00898,MIRLET7BHG,IL17REL,ODF3B,DENND6B,MIRLET7A3,PIM3,MIRLET7B,TBC1D22A-AS1,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,LINC00899,MIR1249,MIR3667,MIR3619,MIR3201,MIR4762,LINC01589,MIR4535,MIR4763,NUP50-DT,LINC01644,MAPK11,PPARA,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,WNT7B,UPK3A,RNU6-1161P,RNU6-409P,FAM136EP,TBC1D22A-DT,ZBED4,SCO2,CELSR1,PPP6R2,NUP50,PKDREJ,GRAMD4,ATXN10,KIAA0930,BRD1,TBC1D22A,TAFA5,RIBC2,PLXNB2,MLC1,MAPK8IP2
han_22_ASD/DD/ID_discovery_cases-case16D2195
Unknown
ARSA,CHKB,FBLN1,CPT1B,TYMP,SMC1B,GTSE1,NCAPH2,TRMU,MIOX,TTC38,MOV10L1,PRR34,FAM118A,PANX2,CRELD2,CERK,ALG12,ADM2,TRABD,SELENOO,HDAC10,TUBGCP6,LMF2,KLHDC7B,PRR34-AS1,CDPF1,GTSE1-DT,TTLL8,CHKB-CPT1B,MIR3667HG,LINC00898,MIRLET7BHG,IL17REL,ODF3B,DENND6B,MIRLET7A3,PIM3,MIRLET7B,TBC1D22A-AS1,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,LINC00899,MIR1249,MIR3667,MIR3619,MIR3201,MIR4762,LINC01589,MIR4535,MIR4763,NUP50-DT,LINC01644,MAPK11,PPARA,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,WNT7B,UPK3A,RNU6-1161P,FAM136EP,TBC1D22A-DT,ZBED4,SCO2,CELSR1,PPP6R2,NUP50,PKDREJ,GRAMD4,ATXN10,KIAA0930,BRD1,TBC1D22A,TAFA5,RIBC2,PLXNB2,MLC1,MAPK8IP2
huang_22_ASD/DD/ID_discovery_cases-caseHCG766
qRT-PCR
De novo
Multiplex
Not segregated
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,LINC00898,IL17REL,ODF3B,DENND6B,PIM3,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR3201,MIR4535,LINC01644,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,BRD1,TBC1D22A,TAFA5,PLXNB2,MLC1,MAPK8IP2
hu_22_ASD_discovery_cases-case23
Unknown
ARSA,CHKB,FBLN1,CPT1B,TYMP,SMC1B,GTSE1,NCAPH2,TRMU,MIOX,TTC38,MOV10L1,PRR34,FAM118A,PANX2,CRELD2,CERK,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,PRR34-AS1,CDPF1,GTSE1-DT,TTLL8,CHKB-CPT1B,MIR3667HG,LINC00898,MIRLET7BHG,IL17REL,ODF3B,DENND6B,MIRLET7A3,PIM3,MIRLET7B,TBC1D22A-AS1,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,LINC00899,MIR3667,MIR3619,MIR3201,MIR4762,LINC01589,MIR4535,MIR4763,LINC01644,MAPK11,PPARA,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,WNT7B,UPK3A,RNU6-1161P,RNU6-409P,FAM136EP,TBC1D22A-DT,ZBED4,SCO2,CELSR1,PPP6R2,PKDREJ,GRAMD4,ATXN10,BRD1,TBC1D22A,TAFA5,RIBC2,PLXNB2,MLC1,MAPK8IP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000926
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001050
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002162
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004030
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004154
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004315
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005095
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005437
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
krumm_15_ASD_discovery_cases-case14232.p1
Omni2.5-4v1
De novo
Simplex
Segregated
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
levchenko_22_DD/ID_discovery_cases-caseD872
Unknown
ACR,ARSA,CHKB,FBLN1,CPT1B,TYMP,SMC1B,GTSE1,NCAPH2,TRMU,MIOX,TTC38,MOV10L1,PRR34,FAM118A,PANX2,CRELD2,CERK,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,PRR34-AS1,CDPF1,GTSE1-DT,TTLL8,CHKB-CPT1B,MIR3667HG,LINC00898,MIRLET7BHG,IL17REL,ODF3B,DENND6B,MIRLET7A3,PIM3,MIRLET7B,TBC1D22A-AS1,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,LINC00899,MIR3667,MIR3619,MIR3201,MIR4762,LINC01589,MIR4535,MIR4763,LINC01644,MAPK11,PPARA,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,WNT7B,UPK3A,RNU6-1161P,RNU6-409P,FAM136EP,TBC1D22A-DT,ZBED4,SCO2,CELSR1,PPP6R2,PKDREJ,GRAMD4,ATXN10,BRD1,TBC1D22A,TAFA5,RIBC2,PLXNB2,MLC1,MAPK8IP2
mahjani_21_ASD_discovery_cases-case175
Unknown
ARSA,CHKB,TYMP,CPT1B,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,HDAC10,TRABD,SELENOO,LMF2,TUBGCP6,SHANK3,KLHDC7B,TTLL8,CHKB-CPT1B,MIR3667HG,IL17REL,DENND6B,PIM3,ODF3B,SYCE3,RPL35P8,LINC01310,RPL5P35,CHKB-DT,MIR3201,MIR3667,MIR4535,MAPK12,SBF1,MAPK11,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,SCO2,ZBED4,PPP6R2,BRD1,TAFA5,MAPK8IP2,MLC1,PLXNB2
mahjani_21_ASD_discovery_cases-case176
Unknown
ARSA,CHKB,TYMP,CPT1B,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,CERK,ALG12,ADM2,HDAC10,TRABD,SELENOO,LMF2,TUBGCP6,SHANK3,KLHDC7B,TTLL8,CHKB-CPT1B,MIR3667HG,IL17REL,LINC00898,DENND6B,PIM3,ODF3B,TBC1D22A-AS1,SYCE3,RPL35P8,LINC01310,RPL5P35,CHKB-DT,MIR3201,MIR3667,MIR4535,LINC01644,MAPK12,SBF1,MAPK11,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,TBC1D22A-DT,SCO2,ZBED4,PPP6R2,GRAMD4,BRD1,TAFA5,TBC1D22A,MAPK8IP2,MLC1,PLXNB2
mahjani_21_ASD_discovery_cases-case198
Unknown
ARSA,CHKB,TYMP,CPT1B,GTSE1,NCAPH2,TTC38,MIOX,MOV10L1,TRMU,PANX2,CRELD2,CERK,ALG12,ADM2,HDAC10,TRABD,SELENOO,LMF2,TUBGCP6,SHANK3,KLHDC7B,CDPF1,GTSE1-DT,TTLL8,CHKB-CPT1B,MIR3667HG,MIRLET7BHG,IL17REL,LINC00898,MIRLET7A3,DENND6B,PIM3,ODF3B,MIRLET7B,TBC1D22A-AS1,SYCE3,RPL35P8,LINC01310,RPL5P35,CHKB-DT,MIR3619,MIR3201,MIR3667,MIR4535,MIR4763,LINC01644,MAPK12,SBF1,PPARA,MAPK11,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,FAM136EP,TBC1D22A-DT,SCO2,ZBED4,CELSR1,PPP6R2,PKDREJ,GRAMD4,BRD1,TAFA5,TBC1D22A,MAPK8IP2,MLC1,PLXNB2
mahjani_21_ASD_discovery_cases-case202
Unknown
FBLN1,SMC1B,GTSE1,TTC38,FAM118A,MOV10L1,PRR5,PRR34,TRMU,PANX2,CRELD2,CERK,ALG12,HDAC10,TRABD,RTL6,SELENOO,TUBGCP6,SHISAL1,PHF21B,CDPF1,PRR34-AS1,GTSE1-DT,TTLL8,MRPS18CP6,MIR3667HG,LINC00207,MIRLET7BHG,IL17REL,LINC00898,MIRLET7A3,DENND6B,PIM3,MIRLET7B,LINC00229,PRR5-ARHGAP8,TBC1D22A-AS1,KRT18P23,RPL35P8,LINC01310,RPL5P35,ANP32BP2,LINC00899,MIR1249,MIR3619,MIR3201,MIR3667,MIR4535,NUP50-DT,MIR4762,LINC01589,MIR4763,LINC01644,LINC01656,MAPK12,PPARA,MAPK11,MIR6821,RN7SKP252,UPK3A,WNT7B,RNU6-1161P,FAM136EP,TBC1D22A-DT,ZBED4,CELSR1,PPP6R2,PKDREJ,NUP50,GRAMD4,BRD1,ARHGAP8,ATXN10,KIAA0930,TAFA5,TBC1D22A,RIBC2,MLC1,PLXNB2
maini_18_ASD/DD/ID_discovery_cases-case_unknown129
De novo
Unknown
Unknown
GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
marshall_08_ASD_discovery_cases-NA0039-000
qPCR, qmPCR
De novo
Simplex-CHR
NA
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
miyake_23_ASD_discovery_cases-case8397
qPCR
De novo
ACR,ARSA,CHKB,CPT1B,TYMP,NCAPH2,MIOX,MOV10L1,PANX2,CRELD2,ALG12,ADM2,TRABD,SELENOO,HDAC10,SHANK3,TUBGCP6,LMF2,KLHDC7B,TTLL8,RPL23AP82,CHKB-CPT1B,MIR3667HG,LINC00898,IL17REL,ODF3B,DENND6B,PIM3,TBC1D22A-AS1,RPL35P8,SYCE3,RPL5P35,LINC01310,CHKB-DT,MIR3667,MIR3201,MIR4535,LINC01644,MAPK11,SBF1,MAPK12,MIR6821,KLHDC7B-DT,RN7SKP252,RNU6-409P,ZBED4,SCO2,PPP6R2,RABL2B,BRD1,TBC1D22A,TAFA5,PLXNB2,MLC1,MAPK8IP2
moessner_07_ASD_discovery_cases-case2
qPCR, FISH
Paternal
Simplex
NA
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249912
Unknown
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER1016
CNV validation not reported
De novo
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER250072
CNV validation not reported
De novo
Unknown
Unknown
PNPLA5,LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,SULT4A1,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER254458
CNV validation not reported
De novo
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER257964
CNV validation not reported
De novo
Unknown
Unknown
CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER275023
CNV validation not reported
De novo
Unknown
Unknown
PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER275045
CNV validation not reported
Unknown
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER277232
CNV validation not reported
Unknown
Unknown
Unknown
ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER282753
CNV validation not reported
Unknown
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER306150
CNV validation not reported
Unknown
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER328431
CNV validation not reported
De novo
Unknown
Unknown
LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER331021
CNV validation not reported
Unknown
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
palumbo_17_DD/ID/ASD/EP_discovery_cases-DECIPHER333097
CNV validation not reported
De novo
Unknown
Unknown
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
pinto_14_ASD_discovery_cases2-case2072_1
qPCR
De novo (germinal mosaicism)
Multiplex
Segregated [present in 1 sister with autism (2072_2)]
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
quintela_17_DD/ID_discovery_cases-caseID_350
De novo
Possibly segregated
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
rosenfeld_10_ASD_discovery_cases-case10665
FISH
De novo
Unknown
Unknown
PPARA,C22orf40,PKDREJ,TTC38,GTSE1,TRMU,CELSR1,GRAMD4,CERK,TBC1D22A,FAM19A5,BRD1,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,FAM116B,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB,MAPK8IP2,ARSA,SHANK3,ACR
sansovic_17_DD/ID/ASD_discovery_cases-case6
Paternal
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
sansovic_17_DD/ID/ASD_discovery_cases-case75
Unknown
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
sebat_07_ASD_discovery_cases-89-3524-100
390K ROMA or Agilent 244K aCGH, G-banded karyotyping, FISH, microsatellite
De novo
Simplex
NA
CELSR1,GRAMD4,CERK,TBC1D22A,LOC339685,FLJ46257,MIR3201,FAM19A5,LOC284933,MIR4535,LOC100128946,C22orf34,BRD1,LOC90834,ZBED4,ALG12,CRELD2,PIM3,IL17REL,MLC1,MOV10L1,PANX2,TRABD,SELO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,PPP6R2,SBF1,ADM2,MIOX,LMF2,NCAPH2,SCO2,TYMP,ODF3B,KLHDC7B,SYCE3,CPT1B,CHKB-CPT1B,CHKB,LOC100144603,MAPK8IP2,ARSA,SHANK3
shin_15_ASD/DD/ID_discovery_cases-case7
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH15
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH17
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH21
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH22
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH25
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH28
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH4
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PNPLA3,SAMM50,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
soorya_13_ASD/ID_discovery_cases-SH5
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
soorya_13_ASD/ID_discovery_cases-SH6
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
De novo
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3,PARVB
soorya_13_ASD/ID_discovery_cases-SH7
MLPA & solid phase hybridization (Illumina Omni 2.5-8 v1)
Unknown (not maternal)
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
tammimies_15_ASD_discovery_cases-case3-0039-000
Paternal
Unknown
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
werling_19_ASD_discovery_cases-caseA10W
Unknown
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case17
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case18
Unknown
MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case3
De novo
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case4
Unknown
TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case6
Unknown
CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
xu_20_DD/ID_discovery_cases-case8
Unknown
GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B-DT,KLHDC7B,RNU6-409P,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,RPL23AP82,RABL2B,TTC38,CELSR1,GRAMD4,TBC1D22A,TAFA5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,CHKB-DT,SHANK3
Controls
No Control Data Available
No Animal Model Data Available