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22q13.31-q13.33CNV Type: Deletion-Duplication


Largest CNV size: 45144027 bp

Statistics Box:
Number of Reports: 21



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

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Decipher Symbol                         Decipher Symbol

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
Excess of rare, inherited truncating mutations in 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

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
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 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
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 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

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
 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
 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)
 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
 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

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
  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
  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
  maini_18_ASD/DD/ID_discovery_cases-case_unknown129
  NA NA
 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
  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

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 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
 
 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
 
 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
 
 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
 

Controls

No Control Data Available
No Animal Model Data Available
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