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1p36.33-p36.32CNV Type: Deletion


Largest CNV size: 2100000 bp

Statistics Box:
Number of Reports: 17


Summary Information

The precise breakpoints for this deletion, identified in a female with PDD-NOD and mild intellectual disability, were not provided in the original report; therefore, the gene content of this deletion is unknown.

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
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.
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
NA
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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-Duplication
NA
Deletion
NA
Deletion
NA
Deletion
NA
Deletion
NA
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 4944170
 1
 0
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 4400000
 1
 1
 2
 ceylan_18_DD/ID_discovery_cases
  NA NA
 Patients examined at the department of genetics between May 2016 and April 2017
 124
 Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
 Range, 15 days-17 years
 58.87% Male
 2300000
 1
 0
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 1388974
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 4233233
 2
 0
 2
 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
 
 
 1244519
 0
 1
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
 410
 151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
 Mean age, 2 yrs. 11 mos.
 68.78% Male
 4390489
 1
 0
 1
 jacquemont_06_ASD_discovery_cases
 Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
 29
 Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
 NA
 58.62% Male
 2100000
 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
 4248230
 21
 3
 24
 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
 3500000
 2
 0
 2
 miclea_22_DD/ID_discovery_cases
  NA NA
 Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
 189
 Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
 Range, 1-18 yrs.
 51.85% Male
 3823066
 1
 0
 1
 munnich_19_ASD_discovery_cases
 Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
 502
 Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
 < 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
 69.92% Male
 1900000
 1
 0
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 156800
 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
 4301000
 1
 1
 2
 streata_22_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
 371
 All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
 Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
 63.07% Male
 2072841
 1
 0
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 2800000
 1
 0
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 1778572
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1244519
 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
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 156800
 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
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 jacquemont_06_ASD_discovery_cases
  France
 aCGH
  BACs aCGH (1 Mb resolution array)
 
 
 PCR, FISH
 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
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 miclea_22_DD/ID_discovery_cases
  Romania
 Solid phase hybridization
  Illumina Infinium OmniExpress-24 BeadChip
 NA
 Illumina GenomeStudio v.2.0.
 None
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 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
 streata_22_ASD/DD/ID_discovery_cases
  Romania
 aCGH
  Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
 NA
 Agilent CytoGenomics, OGT CytoSure Interpret
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
 
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 

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-case09DG00247
 N/A
 M
 Developmental delay and epilepsy
 Global developmental delay, dysmorphic features and microcephaly, epilepsy (with infantile spasms), hypotonia, eye/vision problems, with linear mosaic hyperpigmentation seen in a linear fashion in the lower extremities and the lower abdomen, nephrocalcinosis (1p36 microdeletion syndrome). Consanguineous parents.
 Global developmental delay
 10001
 4884110
  4874110
 GRCh38
 Deletion
 No
  battaglia_13_DD/ID/ASD_discovery_cases-case1
 3 yrs. 9 mos.
 F
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Moderate-severe DD/ID
 2349395
 3916839
  1567445
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case52
 2 yrs. 2 mos.
 M
 Epilepsy and borderline DD/ID
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Borderline DD/ID
 629084
 4962748
  4333665
 GRCh38
 Deletion
 Yes
  ceylan_18_DD/ID_discovery_cases-case1
  NA NA
 1.5 yrs.
 N/A
 Developmental delay and epilepsy
 Developmental milestones: developmental delay. Dysmorphic features: prominent forehead, pointed chin, deep-set eyes, straight eyebrows. Other findings: dilated cardiomyopathy, epilepsy.
 
 914086
 3236404
  2322319
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case105
  NA NA
 N/A
 M
 Dysmorphic features
 DIM and facial dysmorphism
 
 1138194
 2527167
  1388974
 GRCh38
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300649
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 824382
 4783310
  3958929
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300671
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 1084373
 5192925
  4108553
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case37873
 4 yrs. 10 mos.
 M
 Developmental delay
 Poor speech. Dysmorphic features: frontal bossing, low-set ear with notched helix, broad nasal root, prominent central incisors, ptosis. Growth parameters: weight >95th %ile, height 25th %ile, OFC +4.0 SD. Family history: father with macrocephaly; mother has similar ears.
 Developmental delay
 2067774
 3327168
  1259395
 GRCh38
 Duplication
 Yes
  han_22_ASD/DD/ID_discovery_cases-case15D2687
  NA NA
 2 yrs. 2 mos.
 M
 Developmental delay/Intellectual disability
 Inability to talk and walk
 
 914086
 5304574
  4390489
 GRCh38
 Deletion
 No
  jacquemont_06_ASD_discovery_cases-patient7
 23 yrs.
 F
 PDD-NOS
 Fulfilled DSM-IV criteria for PDD-NOS. Intrauterine and postnatal growth retardation. Facial dysmorphism. Family history: history of mental retardation or ASD.
 Mild mental retardation (MR)
 NA
 NA
  2100000
 Unknown
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000337
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 3319395
  2475049
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2627474
  1783128
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000860
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 3319395
  2475049
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000861
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 3006252
  2161906
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000878
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 3712147
  2867801
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001190
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2627474
  1783128
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001590
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 845437
 2523513
  1678077
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001654
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1482278
 3152536
  1670259
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001711
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 870177
 4426613
  3556437
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001913
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 872305
 2642603
  1770299
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002001
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 872305
 3054463
  2182159
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002284
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 872305
 4133409
  3261105
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002328
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 792758
 5006311
  4213554
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002481
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 872305
 2642603
  1770299
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002645
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 821713
 4155674
  3333962
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002647
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 629044
 3346226
  2717183
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003834
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2627474
  1783128
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004754
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844147
 2963530
  2119384
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004760
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 4665295
  3820949
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004919
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844147
 4598532
  3754386
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005166
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844347
 2627474
  1783128
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005194
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 844147
 5020772
  4176626
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005205
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1084373
 3367776
  2283404
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005360
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 826553
 4719105
  3892553
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown93
  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
 
 824382
 4256907
  3432526
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown94
  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
 
 1929303
 4783463
  2854161
 GRCh38
 Deletion
 No
  miclea_22_DD/ID_discovery_cases-case136
  NA NA
 NA
 NA
 Developmental delay and intellectual disability
 Global developmental delay, dysmorphic features
 Intellectual disability
 82153
 3905218
  3823066
 GRCh38
 Deletion
 No
  munnich_19_ASD_discovery_cases-case2
 N/A
 F
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
 
 917423
 2806898
  1889476
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case82503
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 2255901
 2412700
  156800
 Unknown
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case56
 9 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 844347
 5020631
  4176285
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case99
 6 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 898721
 2627474
  1728754
 GRCh38
 Deletion
 No
  streata_22_ASD/DD/ID_discovery_cases-case216
  NA NA
 NA
 F
 Developmental delay and intellectual disability
 Global developmental delay, facial dysmorphism.
 Mild/moderate intellectual disability
 629131
 2701971
  2072841
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case3
 
 F
 Epilepsy
 Craniofacial dysmorphism typical of 1p36 microdeletion syndrome, heart defects, hearing impairment, seizures
 
 629025
 3426180
  2797156
 GRCh38
 Deletion
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0312-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 914087
 2696599
  1782513
 GRCh38
 Deletion
 Yes

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-case09DG00247
 
 
 Unknown
 Unknown
 Unknown
 DDX11L1,MIR6859-1,MIR1302-2HG,MIR1302-2,FAM138A,OR4G4P,OR4G11P,RNU6-1100P,MIR6859-2,RPL23AP24,WBP1LP7,OR4F29,CICP7,MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,WASH7P,OR4F5,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,CICP27,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 battaglia_13_DD/ID/ASD_discovery_cases-case1
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,PRDM16
 
 battaglia_13_DD/ID/ASD_discovery_cases-case52
 FISH or qPCR
 
 Unknown
 Unknown
 Unknown
 MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 ceylan_18_DD/ID_discovery_cases-case1
 
 
 De novo
 
 
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ,PRDM16
 
 chaves_19_ASD/DD/ID_discovery_cases-case105
 
 
 Unknown
 
 
 LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,PRKCZ
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300649
 qPCR
 
 De novo
 
 
 LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300671
 qPCR
 
 De novo
 
 
 LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,PRKCZ,PRDM16
 
 girirajan_12_ASD/DD/ID_discovery_cases-case37873
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 PRKCZ-AS1,HES5,ACTRT2,MIR4251,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,MORN1,PLCH2,MMEL1,TTC34,PRKCZ,PRDM16
 
 han_22_ASD/DD/ID_discovery_cases-case15D2687
 
 
 De novo
 
 
 CDK11B,DVL1,MEGF6,DFFB,ARHGEF16,SDF4,WRAP73,SSU72,AURKAIP1,MXRA8,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,LRRC47,HES4,AJAP1,TP73-AS1,PRDM16,MMEL1,VWA1,MORN1,NADK,TAS1R3,CPTP,CCNL2,PLEKHN1,ATAD3B,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,TPRG1L,ACAP3,B3GALT6,TNFRSF14-AS1,ACTRT2,SAMD11,MIB2,CCDC27,MRPL20-AS1,ATAD3C,FAAP20,CALML6,GNB1,GABRD,TTLL10,LINC01342,LINC01777,C1orf174,TMEM52,TMEM240,KLHL17,HES5,AGRN,C1QTNF12,SMIM1,MIR200A,MIR200B,PRDM16-DT,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,EEF1DP6,MIR551A,LINC01346,CDK11A,SLC35E2B,LINC02593,LINC01134,TTC34,MIR4251,TTLL10-AS1,PRKCZ-AS1,PEX10,PRKCZ,LINC01786,MIR6726,MIR6808,LINC01770,MIR6727,LINC02782,LINC02780,LINC01345,LINC02781,LINC01646,TP73-AS3,MMEL1-AS1,SKI,SCNN1D,TP73,TNFRSF4,RN7SL574P,NDUFB4P8,RN7SL657P,TNFRSF14,MMP23A,TNFRSF18,MMP23B,TP73-AS2,MRPL20-DT,CEP104,SLC35E2A,PLCH2,ISG15,RER1,NOC2L
 
 jacquemont_06_ASD_discovery_cases-patient7
 PCR, FISH
 
 De novo
 Unknown
 Unknown
 NA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000337
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000780
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000860
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000861
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000878
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001190
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001590
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001654
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001711
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001913
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002001
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002284
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002328
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002481
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002645
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002647
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003834
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004754
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004760
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004919
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005166
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,AGRN,PRKCZ
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005194
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005205
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,PRKCZ,PRDM16
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005360
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown93
 
 
 Paternal
 Unknown
 Unknown
 LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,AGRN,PRKCZ,PRDM16
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown94
 
 
 Unknown
 Unknown
 Unknown
 GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,PRKCZ,PRDM16
 
 miclea_22_DD/ID_discovery_cases-case136
 
 
 Unknown
 
 
 CDK11B,DVL1,MEGF6,DFFB,ARHGEF16,SDF4,WRAP73,SSU72,AURKAIP1,MXRA8,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,LRRC47,HES4,TP73-AS1,PRDM16,LINC00115,MMEL1,VWA1,MORN1,NADK,TAS1R3,OR4F16,CPTP,CCNL2,PLEKHN1,ATAD3B,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,TPRG1L,ACAP3,B3GALT6,TNFRSF14-AS1,ACTRT2,SAMD11,MIB2,CCDC27,MRPL20-AS1,ATAD3C,FAAP20,CALML6,GNB1,GABRD,FAM41C,TTLL10,LINC01342,C1orf174,TMEM52,TMEM240,KLHL17,HES5,TUBB8P11,AGRN,C1QTNF12,SMIM1,FAM87B,MIR200A,MIR200B,PRDM16-DT,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,LINC01128,MIR551A,CDK11A,SLC35E2B,RPL23AP24,OR4F29,LINC02593,LINC01134,CICP3,CICP7,TTC34,CICP27,MIR4251,TTLL10-AS1,PRKCZ-AS1,MTND2P28,MTND1P23,PEX10,PRKCZ,LINC01786,WASH9P,MIR6859-2,MIR6726,MIR6808,LINC01770,MIR6727,DDX11L17,TP73-AS3,LINC01409,MMEL1-AS1,WBP1LP7,SKI,SCNN1D,TP73,TNFRSF4,RNU6-1100P,RNU6-1199P,RN7SL574P,MTATP8P1,MTATP6P1,MTCO3P12,NDUFB4P8,WBP1LP6,RN7SL657P,MTCO1P12,MTCO2P12,TNFRSF14,MMP23A,TNFRSF18,MMP23B,TP73-AS2,MRPL20-DT,CEP104,SLC35E2A,PLCH2,ISG15,RER1,NOC2L
 
 munnich_19_ASD_discovery_cases-case2
 FISH
 
 De novo
 
 
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 
 prasad_12_ASD_discovery_cases-case82503
 
 
 Unknown
 Unknown
 Unknown
 PLCH2,RER1,MORN1,LOC100129534,PEX10
 
 sansovic_17_DD/ID/ASD_discovery_cases-case56
 
 
 Unknown
 
 
 TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
 
 sansovic_17_DD/ID/ASD_discovery_cases-case99
 
 
 Unknown
 
 
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,AGRN,PRKCZ
 
 streata_22_ASD/DD/ID_discovery_cases-case216
 
 
 Unknown
 
 
 CDK11B,DVL1,SDF4,SSU72,AURKAIP1,MXRA8,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,HES4,LINC00115,MMEL1,VWA1,MORN1,NADK,TAS1R3,OR4F16,CPTP,CCNL2,PLEKHN1,ATAD3B,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,ACAP3,B3GALT6,TNFRSF14-AS1,SAMD11,MIB2,MRPL20-AS1,ATAD3C,FAAP20,CALML6,GNB1,GABRD,FAM41C,TTLL10,LINC01342,TMEM52,TMEM240,KLHL17,HES5,TUBB8P11,AGRN,C1QTNF12,FAM87B,MIR200A,MIR200B,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,LINC01128,CDK11A,SLC35E2B,LINC02593,CICP3,TTC34,TTLL10-AS1,PRKCZ-AS1,MTND2P28,MTND1P23,PEX10,PRKCZ,LINC01786,MIR6726,MIR6808,LINC01770,MIR6727,LINC01409,MMEL1-AS1,SKI,SCNN1D,TNFRSF4,RNU6-1199P,MTATP8P1,MTATP6P1,MTCO3P12,NDUFB4P8,WBP1LP6,RN7SL657P,MTCO1P12,MTCO2P12,TNFRSF14,MMP23A,TNFRSF18,MMP23B,MRPL20-DT,SLC35E2A,PLCH2,ISG15,RER1,NOC2L
 
 tzetis_12_DD/ID_discovery_cases-case3
 
 
 De novo
 Unknown
 
 MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ,PRDM16
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0312-003
 RT-qPCR or WGS
 
 Unknown
 
 
 KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,AGRN,PRKCZ
 null

Controls

No Control Data Available
No Animal Model Data Available
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