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22q11.21-q11.22CNV Type: Deletion-Duplication


Largest CNV size: 4281262 bp

Statistics Box:
Number of Reports: 15


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
NA
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 1284471
 1
 0
 1
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 1165812
 1
 0
 1
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 1600000
 1
 0
 1
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 1053000
 1
 0
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 1450000
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 1388731
 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
 1689996
 5
 5
 10
 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
 1160834
 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
 
 
 4281262
 0
 2
 2
 mazzonetto_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
 1363
 "95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
 
 63.17% Male
 1450000
 1
 1
 2
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 1259643
 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
 
 
 994871
 0
 1
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 988877
 0
 1
 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
 1400000
 1
 0
 1
 verberne_22_ASD/DD/ID_discovery_cases
 Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
 331
 Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
 Range, 0-18.7 yrs. (median age 3.95 yrs.)
 NA
 1158143
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 0
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1388731
 NA
 NA
 NA
 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
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 mahjani_21_ASD_discovery_cases
  Sweden
 WES
  Infinium OmniExpress Exome
 PennCNV
 NA
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mazzonetto_24_ASD/DD/ID_discovery_cases
  Brazil
 Low-pass WGS
  Illumina NovaSeq 6000
 SNP-FASST2 (HMM)
 BioDiscovery NxClinical
 
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 qPCR
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 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
 verberne_22_ASD/DD/ID_discovery_cases
  Dutch Caribbean
 CMA
  NA
 NA
 NA
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00118
 N/A
 N/A
 Developmental delay
 Global developmental delay with dysmorphic features, prematurity, failure to thrive, multiple skeletal abnormalities (22q11.2 distal deletion syndrome). Consanguineous parents.
 Global developmental delay
 21111372
 22395795
  1284424
 GRCh38
 Deletion
 No
  annunziata_21_ASD_discovery_cases-caseIB359
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (ADOS comparative score 8, ADOS social affect domain score 1.7, ADOS restricted and repetitive behaviors domain score 1). Birth/neonatal history: normal pregnancy aside from a episode of maternal depression; born at 37 weeks gestation via eutocic delivery. EEG: multifocal epileptiform discharges during sleep, prevalent in the right posterior region. Brain imaging: mild widening of the vermian cerebellar sulci. Additional medical history: ocular and renal malformations. Dysmorphic features: significant peculiar facial characteristics. Growth parameters: height 10th %ile, weight 3rd %ile, head circumference 3rd %ile. Family history: positive for psychiatric disorder in maternal family (affective disorder).
 Total IQ/GQ 49
 21454689
 22620500
  1165812
 GRCh38
 Deletion
 Yes
  bremer_11_ASD_discovery_cases-case10
 9
 F
 ASD
 Syndromic ASD, sporadic case
 MR (IQ<70)
 21115711
 22727511
  1611801
 GRCh38
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1199
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 18 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score n/a (past score n/a); Qualitative abnormalities in nonverbal communication, current score 7 (past score 12); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 6); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 131; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
 Performance IQ n/a, Verbal IQ n/a, Full-scale IQ n/a
 21562852
 22627656
  1064805
 GRCh38
 Deletion
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3989
 N/A
 M
 ID and autistic features
 Moderate intellectual disability, autistic features, dysmorphic features, hypotonia, failure to thrive. Family history: none reported.
 Moderate intellectual disability
 21151076
 22617139
  1466064
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case67970
 2 yrs. 4 mos.
 M
 Developmental delay
 Hypotonia. Epilepsy. Dysmorphic features: epicanthal folds, short downslanting palpebral fissures, small ears, bulbous nose, smooth philtrum, thin upper lip, synophrys, high palate, small mouth. Congenital anomalies: bilateral ectrodactyly, ventricular septal defect, imperforate anus, hypospadias, small testes. Other features: strabismus, prenatal cocaine exposure. Growth parameters: height <3rd %ile, weight <3rd %ile, OFC -4.8 SD. Family history: mother with addiction problems; father incarcerated.
 Global developmental delay; 22 month level at 27 months of age.
 20724658
 22113266
  1388609
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000924
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20671366
 22046408
  1375043
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000983
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21151069
 22562663
  1411595
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001099
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21603122
 22562663
  959542
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002300
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21623411
 22617259
  993849
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002425
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21623411
 22651271
  1027861
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002466
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20668552
 22358488
  1689937
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004001
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21603122
 22562663
  959542
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004042
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21454661
 22562663
  1108003
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004768
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23338443
 24610403
  1271961
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004859
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 21150869
 22562804
  1411936
 GRCh38
 Duplication
 Yes
  mahjani_21_ASD_discovery_cases-case30
 NA
 M
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 21443522
 22604355
  1160834
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0091-004
 NA
 F
 ASD
 RL/EL average/moderate delay, severe repetitive behavior
 IQ/LOF 92
 18339130
 22880028
  4540899
 GRCh38
 Duplication
 Yes
  marshall_08_ASD_discovery_cases-SK0297-003
 NA
 M
 ASD
 Severe repetitive behavior, moderate dysmorphism, seizures
 IQ/LOF 74
 18339130
 22880028
  4540899
 GRCh38
 Duplication
 Yes
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530628
  NA NA
 
 M
 MCA
 Abnormal facial shape (HP:0001999)
 
 21389130
 22639129
  1250000
 GRCh38
 Duplication
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530650
  NA NA
 
 M
 Autism and intellectual disability
 Autism (HP:0000717), abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202)
 Intellectual disability (HP:0001249).
 21189130
 22639129
  1450000
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case109303
 N/A
 M
 DCD/ADHD/RD
 Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
 
 21358465
 22629925
  1271461
 GRCh38
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case29497
 NA
 NA
 ASD
 NA
 NA
 20269722
 21264593
  994871
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1172-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 21628603
 22629297
  1000695
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case59
 3 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 21151069
 22562663
  1411595
 GRCh38
 Deletion
 No
  verberne_22_ASD/DD/ID_discovery_cases-case616
 NA
 M
 
 Cleft lip and palate, hearing loss, tubular nose, long fingers
 
 21454460
 22612602
  1158143
 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
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00118
 
 
 Unknown
 Unknown
 Unknown
 POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 annunziata_21_ASD_discovery_cases-caseIB359
 qPCR, FISH
 
 De novo
 
 
 IGLV7-46,IGLV5-52,IGLV4-69,IGLV8-61,IGLV1-62,IGLVI-38,IGLV2-33,IGLVI-63,IGLVI-42,IGLVIV-64,IGLVIV-65,IGLV1-47,IGLV7-43,IGLV4-60,IGLV7-35,IGLV10-67,IGLV1-44,IGLV3-32,IGLV3-30,IGLV1-51,IGLV6-57,IGLVI-70,IGLVIV-59,IGLVV-58,IGLVV-66,IGLV5-37,IGLV3-31,IGLV1-41,IGLVI-68,IGLV1-36,IGLVIV-53,IGLV9-49,IGLV10-54,IGLV1-50,IGLV2-34,IGLV11-55,IGLVI-56,IGLV1-40,IGLV5-45,IGLV5-48,YPEL1,IGLVIV-66-1,IGLVVII-41-1,ABHD17AP5,ZNF280A,RIMBP3C,YDJC,ZNF280B,CCDC116,SOCS2P2,ASH2LP1,BMP6P1,PI4KAP2,MIR130B,PRAMENP,TMEM191C,MIR301B,PPM1F-AS1,ASH2LP2,ASH2LP3,RNA5SP493,MAPK1,VPREB1,UBE2L3,RN7SKP221,RN7SL280P,TOP3B,PPM1F,PRAME,PPIL2,SDF2L1,TOP3BP1
 
 bremer_11_ASD_discovery_cases-case10
 MLPA, FISH
 
 De novo, paternal
 NA
 NA
 POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 chen_17_ASD_discovery_cases-caseU-1199
 RT-qPCR
 
 Unknown
 
 
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,MAPK1,IGLV10-54,PRAMENP
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3989
 Nimblegen aCGH
 
 De novo
 Simplex (negative family history)
 Segregated
 E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 girirajan_12_ASD/DD/ID_discovery_cases-case67970
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,PI4KA,PI4KAP2,MAPK1,IGLV10-54,AIFM3,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000924
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,PI4KA,PI4KAP2,MAPK1,IGLV10-54,AIFM3,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000983
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001099
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002300
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002425
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002466
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,PI4KA,PI4KAP2,MAPK1,IGLV10-54,AIFM3,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004001
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004042
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004768
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01659,LINC02557,ASLP1,VPREB3,C22orf15,CHCHD10,RN7SL268P,MIF,MIF-AS1,GSTT2B,DDT,GSTT2,BCRP1,CES5AP1,ZDHHC8P1,PCAT14,IGLL1,DRICH1,GUSBP11,RGL4,ZNF70,MMP11,SMARCB1,DERL3,SLC2A11,DDTL,GSTT4,SUSD2,GGT5,POM121L9P,ADORA2A,ADORA2A-AS1,GUCD1,SNRPD3,GGT1,LRRC75B,GGTLC4P,SPECC1L,SPECC1L-ADORA2A,UPB1,CABIN1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004859
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 mahjani_21_ASD_discovery_cases-case30
 
 
 Unknown
 
 
 IGLV1-36,IGLVI-38,IGLV3-32,IGLVIV-64,IGLVIV-59,IGLV5-52,IGLV7-43,IGLV7-35,IGLV10-67,IGLV1-51,IGLVI-42,IGLV8-61,IGLV1-62,IGLV1-44,IGLV4-60,IGLV2-33,IGLVI-63,IGLV6-57,IGLVIV-53,IGLV5-45,IGLV9-49,IGLV1-40,IGLVI-70,IGLV10-54,IGLV1-50,IGLVI-56,IGLV7-46,IGLVV-66,IGLV4-69,IGLVIV-65,IGLV5-37,IGLV1-47,IGLV1-41,IGLVI-68,IGLVV-58,IGLV5-48,IGLV11-55,IGLV2-34,YPEL1,IGLVIV-66-1,IGLVVII-41-1,ABHD17AP5,ZNF280A,YDJC,RIMBP3C,ZNF280B,CCDC116,BMP6P1,ASH2LP1,SOCS2P2,PI4KAP2,MIR130B,PRAMENP,LL22NC03-63E9.3,TMEM191C,MIR301B,PPM1F-AS1,ASH2LP2,ASH2LP3,RNA5SP493,MAPK1,UBE2L3,VPREB1,RN7SL280P,RN7SKP221,TOP3B,PPM1F,HIC2,SDF2L1,PPIL2,TOP3BP1,PRAME
 
 marshall_08_ASD_discovery_cases-SK0091-004
 qPCR, qmPCR
 
 Paternal
 Multiplex
 NA
 GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,IGLV2-8,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,MAPK1,IGLV10-54,TXNRD2,AIFM3,PRAMENP
 
 marshall_08_ASD_discovery_cases-SK0297-003
 qPCR, qmPCR
 
 De novo
 Simplex-MZ
 NA
 GGTLC5P,PPP1R26P3,GGTLC3,RN7SKP131,RIMBP3,SUSD2P2,CA15P2,PPP1R26P2,PPP1R26P4,E2F6P1,DGCR10,CA15P1,DGCR11,TSSK1A,TSSK2,GSC2,LINC01311,SLC25A1,KRT18P62,MRPL40,CLDN5,LINC00895,SEPT5,SEPT5-GP1BB,GP1BB,RTL10,MIR4761,MIR185,MIR3618,MIR1306,TRMT2A,MIR6816,CCDC188,LINC00896,MIR1286,RNU6-225P,RNY1P9,RN7SL812P,KRT18P5,CCDC74BP1,IGLL4P,SLC9A3P2,ABHD17AP4,BCRP5,TMEM191A,LINC01637,THAP7,TUBA3FP,SLC7A4,MIR649,POM121L7P,E2F6P2,E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,BCRP4,GGTLC2,IGLV3-29,IGLV2-28,IGLV3-27,IGLV3-26,IGLVVI-25-1,IGLV3-25,IGLV3-24,IGLV2-23,IGLVVI-22-1,IGLV3-22,IGLV3-21,IGLVI-20,IGLV3-19,IGLV2-18,IGLV3-17,IGLV3-16,IGLV3-15,IGLV2-14,IGLV3-13,IGLV3-12,IGLV2-11,IGLV3-10,IGLV3-9,MIR650,IGLV3-7,IGLV3-6,IGLV2-5,IGLV3-4,IGLV4-3,IGLV3-2,TMEM191B,PI4KAP1,GGT3P,BCRP7,DGCR6,PRODH,DGCR5,DGCR2,RN7SL168P,UFD1,CDC45,TBX1,COMT,ARVCF,DGCR8,RANBP1,ZDHHC8,RTN4R,USP41,ZNF74,SCARF2,SMPD4P1,POM121L4P,SERPIND1,SNAP29,CRKL,LZTR1,THAP7-AS1,P2RX6,P2RX6P,LRRC74B,TUBA3GP,BCRP2,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,POM121L1P,IGLV2-8,FAM230A,DGCR9,ESS2,CLTCL1,HIRA,C22orf39,GNB1L,TANGO2,DGCR6L,KLHL22,MED15,PI4KA,PI4KAP2,MAPK1,IGLV10-54,TXNRD2,AIFM3,PRAMENP
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530628
 
 
 Unknown
 
 
 BCRP4,IGLVI-63,IGLVIV-59,IGLV6-57,IGLV10-54,IGLV3-31,IGLV1-40,IGLV1-44,IGLV1-62,IGLV10-67,IGLV11-55,IGLV1-51,IGLVI-38,IGLV7-46,IGLV8-61,IGLV4-60,IGLV5-37,IGLV4-69,IGLV5-52,IGLVIV-53,IGLVI-70,IGLVIV-64,IGLV1-47,IGLV5-48,IGLVI-42,IGLV1-36,IGLV2-34,IGLV3-30,IGLV3-32,IGLVV-66,IGLVI-56,IGLVIV-65,IGLV2-33,IGLVI-68,IGLV7-43,IGLV1-50,IGLV9-49,IGLV5-45,IGLV7-35,IGLV1-41,IGLVV-58,YPEL1,IGLVVII-41-1,IGLVIV-66-1,ABHD17AP5,ZNF280A,YDJC,RIMBP3C,ZNF280B,CCDC116,SOCS2P2,ASH2LP1,BMP6P1,PI4KAP2,MIR130B,RIMBP3B,TMEM191C,PRAMENP,MIR301B,PPM1F-AS1,ASH2LP2,ASH2LP3,RNA5SP493,MAPK1,RN7SKP63,UBE2L3,VPREB1,RN7SKP221,RN7SL280P,TOP3B,PPM1F,SDF2L1,HIC2,PPIL2,TOP3BP1,PRAME
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530650
 
 
 Unknown
 
 
 BCRP4,IGLVI-63,IGLVIV-59,IGLV6-57,IGLV10-54,IGLV3-31,IGLV1-40,IGLV1-44,IGLV1-62,IGLV10-67,IGLV11-55,IGLV1-51,IGLVI-38,IGLV7-46,IGLV8-61,IGLV4-60,IGLV5-37,IGLV4-69,IGLV5-52,IGLVIV-53,IGLVI-70,IGLVIV-64,IGLV1-47,IGLV5-48,IGLVI-42,IGLV1-36,IGLV2-34,IGLV3-30,IGLV3-32,IGLVV-66,IGLVI-56,IGLVIV-65,IGLV2-33,IGLVI-68,IGLV7-43,IGLV1-50,IGLV9-49,IGLV5-45,IGLV7-35,IGLV1-41,IGLVV-58,POM121L8P,YPEL1,IGLVVII-41-1,IGLVIV-66-1,ABHD17AP5,ZNF280A,YDJC,RIMBP3C,ZNF280B,CCDC116,SOCS2P2,ASH2LP1,BMP6P1,PI4KAP2,MIR130B,RIMBP3B,FAM230B,TMEM191C,PRAMENP,GGT2,BCRP6,MIR301B,PPP1R26P5,PPM1F-AS1,E2F6P3,ASH2LP2,ASH2LP3,FAM230H,RNA5SP493,MAPK1,FAM247A,LINC01651,RN7SKP63,UBE2L3,VPREB1,RN7SKP221,RN7SL280P,TOP3B,FAM246A,PPM1F,SDF2L1,HIC2,PPIL2,TOP3BP1,PRAME
 
 mosca_16_DCD_discovery_cases-case109303
 qPCR
 
 De novo
 Simplex
 Segregated
 RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 rosenfeld_10_ASD_discovery_cases-case29497
 FISH
 
 Unknown
 Unknown
 Unknown
 UBE2L3,YDJC,CCDC116,SDF2L1,PPIL2,YPEL1,MAPK1,PPM1F,TOP3B,VPREB1,ZNF280B,ZNF280A,PRAME
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1172-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,IGLV2-34,IGLV2-33,IGLV3-32,IGLV3-31,IGLV3-30,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,MAPK1,IGLV10-54,PRAMENP
 
 sansovic_17_DD/ID/ASD_discovery_cases-case59
 
 
 Unknown
 
 
 E2F6P3,POM121L8P,BCRP6,PPP1R26P5,LINC01651,RIMBP3B,RN7SKP63,TMEM191C,RN7SKP221,RIMBP3C,YDJC,CCDC116,MIR301B,MIR130B,RN7SL280P,RNA5SP493,IGLVI-70,IGLV4-69,IGLVI-68,IGLV10-67,IGLVIV-66-1,IGLVV-66,IGLVIV-65,IGLVIV-64,IGLVI-63,IGLV1-62,IGLV8-61,ABHD17AP5,IGLV4-60,SOCS2P2,IGLVIV-59,IGLVV-58,BMP6P1,IGLV6-57,IGLVI-56,IGLV11-55,IGLVIV-53,TOP3BP1,VPREB1,IGLV5-52,IGLV1-51,IGLV1-50,ASH2LP3,IGLV9-49,IGLV5-48,IGLV1-47,ASH2LP2,IGLV7-46,IGLV5-45,IGLV1-44,IGLV7-43,IGLVI-42,IGLVVII-41-1,IGLV1-41,IGLV1-40,ASH2LP1,IGLVI-38,IGLV5-37,IGLV1-36,IGLV7-35,ZNF280A,PRAME,FAM230B,GGT2,HIC2,UBE2L3,SDF2L1,PPIL2,YPEL1,PPM1F,TOP3B,ZNF280B,LL22NC03-63E9.3,PI4KAP2,MAPK1,IGLV10-54,PRAMENP
 
 verberne_22_ASD/DD/ID_discovery_cases-case616
 
 
 De novo
 
 
 IGLVI-63,IGLVIV-59,IGLV6-57,IGLV10-54,IGLV3-31,IGLV1-40,IGLV1-44,IGLV1-62,IGLV10-67,IGLV11-55,IGLV1-51,IGLVI-38,IGLV7-46,IGLV8-61,IGLV4-60,IGLV5-37,IGLV4-69,IGLV5-52,IGLVIV-53,IGLVI-70,IGLVIV-64,IGLV1-47,IGLV5-48,IGLVI-42,IGLV1-36,IGLV2-34,IGLV3-32,IGLVV-66,IGLVI-56,IGLVIV-65,IGLV2-33,IGLVI-68,IGLV7-43,IGLV1-50,IGLV9-49,IGLV5-45,IGLV7-35,IGLV1-41,IGLVV-58,YPEL1,IGLVVII-41-1,IGLVIV-66-1,ABHD17AP5,ZNF280A,YDJC,RIMBP3C,ZNF280B,CCDC116,SOCS2P2,ASH2LP1,BMP6P1,PI4KAP2,MIR130B,TMEM191C,PRAMENP,MIR301B,PPM1F-AS1,ASH2LP2,ASH2LP3,RNA5SP493,MAPK1,UBE2L3,VPREB1,RN7SKP221,RN7SL280P,TOP3B,PPM1F,SDF2L1,PPIL2,TOP3BP1,PRAME
 

Controls

No Control Data Available
No Animal Model Data Available
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