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4p16.3-p16.1CNV Type: Duplication


Largest CNV size: 6391078 bp

Statistics Box:
Number of Reports: 18


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Duplication
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
NA
Deletion
NA
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
NA
Deletion
NA
Duplication
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Deletion
NA
Deletion
NA
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akkus_24_ASD/DD/ID_discovery_cases
  NA NA
 Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
 1227
 Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
 
 57.13% Male
 10741575
 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
 9439505
 0
 1
 1
 chen_22_DD/ID_discovery_cases
 Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
 69
 Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
 Average age at diagnosis, 19 mos.
 50.725% Male
 6619676
 1
 0
 1
 costa_21_ASD_discovery_cases
  NA NA
 ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
 144
 Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
 Range, 1-34 yrs. (mean, 7.7 yrs.)
 77.08% Male
 5508516
 1
 0
 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
 9450747
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 8564702
 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
 9820316
 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
 8799579
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 6936000
 1
 0
 1
 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
 9439769
 0
 1
 1
 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
 8284246
 1
 0
 1
 mitani_21_DD/ID_discovery_cases
 Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
 299
 Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
 NA
 NA
 6658245
 1
 0
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 8962937
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 2875425
 0
 1
 1
 sagar_17_ASD/ADHD/OCD_discovery_cases
 Patient with autism, OCD, ADHD, and an overgrowth syndrome with an unbalanced translocation [der(8)t(4;8)p(16;23)] identified during a larger Autism Genome Project CNV study (Pinto et al., 2014)
 1
 Case diagnosed with ADHD and learning disability at age fo 3 years, ASD at age of 5 years (clinical diagnosis of autism at age of 12 years based on ADI-R and ADOS classifications), and OCD at 18 years.
 26 yrs.
 Male
 9016339
 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
 8660000
 1
 1
 2
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 6391078
 0
 1
 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)
 
 8700000
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 akkus_24_ASD/DD/ID_discovery_cases
  Turkey
 Array SNP
  Affymetrix CytoScan Optima
 
 ThermoFisher ChAS v.3.1.
 
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chen_22_DD/ID_discovery_cases
  China
 WGS
  Illumina NovaSeq 6000
 NA
 Chigene
 None
 costa_21_ASD_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 NA
 Agilent Genomic Workbench
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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
 mahjani_21_ASD_discovery_cases
  Sweden
 WES
  Infinium OmniExpress Exome
 PennCNV
 NA
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mazzonetto_24_ASD/DD/ID_discovery_cases
  Brazil
 Low-pass WGS
  Illumina NovaSeq 6000
 SNP-FASST2 (HMM)
 BioDiscovery NxClinical
 
 miclea_22_DD/ID_discovery_cases
  Romania
 Solid phase hybridization
  Illumina Infinium OmniExpress-24 BeadChip
 NA
 Illumina GenomeStudio v.2.0.
 None
 mitani_21_DD/ID_discovery_cases
  Turkey
 WES, WGS
  Illumina HiSeq2000, Illumina NovaSeq6000
 NA
 XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
 aCGH and/or ddPCR
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 sagar_17_ASD/ADHD/OCD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 1M Duo
 
 
 qPCR, FISH
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  akkus_24_ASD/DD/ID_discovery_cases-case24A
  NA NA
 0 yrs.
 F
 Developmental delay, intellectual disability, and epilepsy
 Microcephaly, epilepsy, severe developmental delay, hypotonia, downslanted palpebral fissures, bilateral simian line, 2-3 toe syndactyly, short philtrum, metopic depression, triangular face, micrognathia.
 Intellectual disability
 68453
 10810027
  10741575
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case372
  NA NA
 N/A
 M
 Developmental delay
 Hypotonia, developmental delay, speech and/or language delay or impairment, learning difficulties, DIL and behavioral disorder
 Learning difficulties
 68453
 9507957
  9439505
 GRCh38
 Duplication
 No
  chen_22_DD/ID_discovery_cases-case38
 7 mos.
 M
 Developmental delay, intellectual disability, and seizures
 Gesell scores: 40-13-25-25-38. Clinical profile: delayed speech and language development, seizures, poor eye contact, ankylosing spondylitis, short stature, and abnormal cardiac morphology.
 Intellectual disability.
 79028
 6698703
  6619676
 GRCh38
 Deletion
 No
  costa_21_ASD_discovery_cases-caseP68
  NA NA
 NA
 M
 ASD, developmental delay, and intellectual disability
 Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: cardiac alterations, absent speech, intellectual disability, facial dysmorphisms, hypotonia.
 Intellectual disability
 1702652
 7211167
  5508516
 GRCh38
 Deletion
 No
  han_22_ASD/DD/ID_discovery_cases-case19D1091
  NA NA
 19 mos. 8 days
 M
 Developmental delay
 Speech delay, hearing problem
 
 68453
 9519199
  9450747
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case6
 2 yrs.
 NA
 Developmental delay
 Developmental delay partially similar to Wolf-Hirschhorm syndrome phenotype
 Severe developmental delay
 137219
 8693976
  8556758
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000903
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 51519
 8222798
  8171280
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001199
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72555
 7829425
  7756871
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002002
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 85149
 7063699
  6978551
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002499
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 85149
 7843616
  7758468
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003786
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1676799
 5212384
  3535586
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004387
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 51319
 10250807
  10199489
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004555
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72555
 10004195
  9931641
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 2231690
 11197847
  8966158
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005275
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72555
 5607083
  5534529
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005278
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 72555
 5212384
  5139830
 GRCh38
 Deletion
 Yes
  mahjani_21_ASD_discovery_cases-case235
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 71673
 8871251
  8799579
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown160
  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
 
 81629
 7016030
  6934402
 GRCh38
 Deletion
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530478
  NA NA
 
 F
 Intellectual disability
 Macrocephaly (HP:0000256)
 Intellectual disability (HP:0001249).
 1
 9439769
  9439769
 GRCh38
 Duplication
 No
  miclea_22_DD/ID_discovery_cases-case90
  NA NA
 NA
 NA
 Developmental delay and intellectual disability
 Global developmental delay, Wolf-Hirschhorn syndrome
 Intellectual disability
 71673
 8355918
  8284246
 GRCh38
 Deletion
 No
  mitani_21_DD/ID_discovery_cases-caseBAB13582
 NA
 F
 NDD
 Thin corpus callosum
 
 59428
 6717672
  6658245
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case21020_1
 21 yrs.
 M
 ASD
 Autism, language delay, verbal, prominent comorbid OCD, overgrowth. Physical exam at 21 y: macrocephalic (head circumference 60 cm, 1.5 cm greater than the 98%ile), weight 102.5 kg (1.5 kg greater than the 97%ile), height 183 cm (75-90%ile); scaphocephalic, extra fold in the cartilage at the superior aspect of each pinna, prominent lower lip, left upper canine tooth congenitally absent, duplicate set of wisdom teeth in his lower jaw, scoliosis, mild generalized hypotonia, no history of epilepsy. Karyotype: de novo unbalanced translocation shown by FISH, 46,XY, der(8)t(4;8)(4p16.1ter;8p23.1ter). Family history: both parents healthy.
 Moderate ID
 63511
 9405515
  9342005
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case99HI1083A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
 
 4188801
 7064225
  2875425
 GRCh38
 Duplication
 No
  sagar_17_ASD/ADHD/OCD_discovery_cases-case1
 26 yrs.
 M
 Autism, ADHD and OCD
 Case diagnosed with ADHD and learning disability at age fo 3 years, ASD at age of 5 years (clinical diagnosis of autism at age of 12 years based on ADI-R and ADOS classifications), and OCD at 18 years. Birth/neonatal history: born at term after a pregnancy complicated by preterm labor treated with cervical cerclage, bedrest from month five and terbutaline; noted in perinatal period to be very irritable; birth weight of 2550 g (5th %ile), length of 50.8 cm (50th %ile); ventricular septal defect than closed spontaneously in infancy. Motor and musculoskeletal evaluation: mild thoracic scoliosis concave to the right; mild global hypotonia; toe walking; large hands and feet. Behavioral/psychiatric evaluation: OCD symptoms consisted of excessive hand washing, excessive use of toilet paper, paper towels, and other repetitive behaviors; poor sleep; irritability; aggression; skin-picking. Additional medical history: eczema (as a child); psoriasis (as an adult); headaches (treated effectively with over-the-counter preparation). Dysmorphic features: scaphocephaly, hypertrichosis of the eyelashes, extra fold in the cartilage at the superior aspect of each pinna, prominent lower lip, congenitally absent left upper canine tooth, duplicate set of wisdom teeth in lower jaw, two lacy hyperpgimented macules. Growth parameters: macrocephaly (head circumference of 60 cm, 1.5 cm greater than 98th %ile); weight of 102.5 kg (1.5 kg greater than 97th %ile); height of 183 cm (81st %ile); BMI of 30.6 (95th %ile). Family history: healthy non-consanguineous parents; two siblings that developed typically; no family history of OCD or pervasive developmental disorder, although father's family was reported to have difficulty with socialization. Additional genetic information: unbalanced translocation der(8)t(4;8)p(16;23).
 Peabody Picture Vocabulary Test, Third Edition (PPVT-III) standard scores of 54 at age of 12 years (age equivalency of 4 years 3 months) and 32 at 18 years (age equivalency of 5 years 5 months). Raven's Coloured Progressive Matrices standard score of 33 at age of 12 years. VABS II Adaptive Behavior Composite standard score of 53 at 18 years.
 10001
 9405515
  9395515
 GRCh38
 Duplication
 Yes
  sansovic_17_DD/ID/ASD_discovery_cases-case14
 12 yrs.
 F
 Developmental delay/intellectual disability and ASD
 Developmental delay/intellectual disability, ASD, Dysmorphism
 
 45886
 8731005
  8685120
 GRCh38
 Duplication
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case17
 3 yrs.
 M
 Developmental delay/intellectual disability and ASD
 Developmental delay/intellectual disability, ASD, Congenital anomalies, Dysmorphism
 
 72555
 8731005
  8658451
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR062-H3-HI1083
 NA
 
 ASD
 NA
 NA
 415163
 6670231
  6255069
 GRCh38
 Duplication
 Yes
  tzetis_12_DD/ID_discovery_cases-case13
 
 F
 Epilepsy
 Craniofacial dysmorphism, microcephaly, seizures, abnormal brain MRI (delay in myelinosis)
 
 72555
 7402525
  7329971
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case78
 
 M
 ASD + Epilepsy
 Microcephaly, epicanthic folds, hypertelorism, cleft palate, seizures, short stature, behavior problems, ASD
 
 45886
 8707278
  8661393
 GRCh38
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 akkus_24_ASD/DD/ID_discovery_cases-case24A
 
 
 Unknown
 
 
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,DRD5,FGFR3,CTBP1,CRMP1,OR7E43P,GPR78,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,SH3TC1,PIGG,BLOC1S4,TBC1D14,UVSSA,ZFYVE28,SLC2A9,AFAP1,SORCS2,HAUS3,TNIP2,ABLIM2,OR7E99P,ABCA11P,SLC49A3,GRPEL1,TMEM175,TMEM129,TMEM128,AFAP1-AS1,HTRA3,CTBP1-DT,MRFAP1,ZNF518B,TADA2B,MRFAP1L1,CLNK,FAM53A,EVC2,OTOP1,TRMT44,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,HMX1,OR7E103P,ZNF718,CCDC96,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,RAF1P1,C4orf50,FAM86EP,POLN,OR7E83P,C4orf48,OR7E35P,USP17L9P,OR7E84P,USP17L6P,CFAP99,MIR95,OR7E86P,OR7E85P,OR7E162P,ZNF876P,DEFB131A,UNC93B4,FAM86MP,USP17L27,RPS3AP19,RPS7P15,USP17L30,USP17L25,USP17L28,MIR571,OR7E85BP,GMPSP1,ALG1L7P,ZNF732,USP17L29,USP17L5,USP17L26,RPS3AP16,USP17L24,SCARNA22,PSAPL1,LINC02447,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,DEFB108F,LINC02171,ALG1L3P,OR7E163P,USP17L15,USP17L10,USP17L20,OR7E111FP,USP17L11,USP17L21,USP17L12,USP17L22,USP17L16P,USP17L14P,FAM90A26,USP17L19,FAM86KP,USP17L17,USP17L18,USP17L13,TMED11P,MIR548I2,COX6B1P5,ENPP7P9,ENPP7P10,ENPP7P11,MIR4274,MIR3138,MIR4800,STX18-AS1,MIR378D1,RNA5SP152,RNA5SP155,HTT-AS,RNA5SP153,MIR4798,RNA5SP154,UNC93B8,ALG1L14P,UNC93B7,USP17L23,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC02498,LINC01396,STX18-IT1,SLC2A9-AS1,LINC02517,LINC02482,RN7SKP292,NSD2,NELFA,WFS1,SH3BP2,SNRPCP16,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP36,RN7SKP113,SNRPCP13,ZNF519P4,LINC02600,DEFB130D,TMEM271,FAM193A,ACOX3,NOP14,SLBP,ZNF141,CPZ,MFSD10,KIAA0232,WDR1,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 chaves_19_ASD/DD/ID_discovery_cases-case372
 
 
 Unknown
 
 
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR7E103P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,S100P,MRFAP1L1,RN7SKP292,CCDC96,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TACC3,TMEM129,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,LINC02447,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,POLN,HAUS3,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 chen_22_DD/ID_discovery_cases-case38
 
 
 De novo
 
 
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,FGFR3,CTBP1,CRMP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,TMEM128,CTBP1-DT,MRFAP1,FAM53A,EVC2,OTOP1,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,C4orf50,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,MIR378D1,HTT-AS,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC01396,STX18-IT1,LINC02482,NSD2,NELFA,WFS1,SH3BP2,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP113,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 costa_21_ASD_discovery_cases-caseP68
 
 
 Unknown
 
 
 ADD1,ADRA2C,EVC,FGFR3,CRMP1,OR7E43P,NSG1,STX18,LYAR,CYTL1,STK32B,BLOC1S4,TBC1D14,ZFYVE28,SORCS2,HAUS3,TNIP2,OR7E99P,GRPEL1,TMEM129,TMEM128,MRFAP1,TADA2B,MRFAP1L1,EVC2,OTOP1,JAKMIP1,ZBTB49,HGFAC,HTT,GRK4,OR7E103P,CCDC96,DOK7,NAT8L,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,MSANTD1,C4orf50,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,UNC93B4,RPS7P15,ALG1L7P,RPS3AP16,SCARNA22,LINC02447,MIR943,LRPAP1,MSX1,LDHAP1,LETM1,LINC02171,OR7E163P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,MIR378D1,HTT-AS,RNF4,RGS12,S100P,PPP2R2C,LINC01396,STX18-IT1,LINC02482,RN7SKP292,NSD2,NELFA,WFS1,SH3BP2,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP36,RN7SKP113,LINC02600,FAM193A,NOP14,SLBP,MFSD10,KIAA0232,LINC01587,TACC3,MXD4,MAN2B2
 
 han_22_ASD/DD/ID_discovery_cases-case19D1091
 
 
 Unknown
 
 
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,FGFR3,CTBP1,CRMP1,OR7E43P,GPR78,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,SH3TC1,PIGG,BLOC1S4,TBC1D14,UVSSA,ZFYVE28,AFAP1,SORCS2,HAUS3,TNIP2,ABLIM2,OR7E99P,ABCA11P,SLC49A3,GRPEL1,TMEM175,TMEM129,TMEM128,AFAP1-AS1,HTRA3,CTBP1-DT,MRFAP1,TADA2B,MRFAP1L1,FAM53A,EVC2,OTOP1,TRMT44,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,HMX1,OR7E103P,ZNF718,CCDC96,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,C4orf50,FAM86EP,POLN,OR7E83P,C4orf48,USP17L9P,OR7E84P,USP17L6P,CFAP99,MIR95,OR7E86P,OR7E85P,OR7E162P,ZNF876P,DEFB131A,UNC93B4,USP17L27,RPS7P15,USP17L30,USP17L25,USP17L28,MIR571,OR7E85BP,GMPSP1,ALG1L7P,ZNF732,USP17L29,USP17L5,USP17L26,RPS3AP16,USP17L24,SCARNA22,PSAPL1,LINC02447,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,DEFB108F,LINC02171,OR7E163P,USP17L15,USP17L10,USP17L20,OR7E111FP,USP17L11,USP17L21,USP17L12,USP17L22,USP17L16P,USP17L14P,FAM90A26,USP17L19,FAM86KP,USP17L17,USP17L18,USP17L13,TMED11P,COX6B1P5,ENPP7P9,ENPP7P10,MIR4274,MIR4800,STX18-AS1,MIR378D1,RNA5SP152,HTT-AS,RNA5SP153,MIR4798,UNC93B8,ALG1L14P,UNC93B7,USP17L23,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC01396,STX18-IT1,LINC02517,LINC02482,RN7SKP292,NSD2,NELFA,WFS1,SH3BP2,SNRPCP16,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP36,RN7SKP113,ZNF519P4,LINC02600,DEFB130D,TMEM271,FAM193A,ACOX3,NOP14,SLBP,ZNF141,CPZ,MFSD10,KIAA0232,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 iourov_12_ASD/ID/EP_discovery_cases-case6
 FISH
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000903
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001199
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002002
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,POLN,HTT,OTOP1,STK32B,WFS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002499
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003786
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,POLN,HTT,OTOP1,STK32B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004387
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004555
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005107
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005275
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,POLN,HTT,OTOP1,STK32B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005278
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,POLN,HTT,OTOP1,STK32B
 
 mahjani_21_ASD_discovery_cases-case235
 
 
 Unknown
 
 
 ADD1,ATP5ME,ADRA2C,CTBP1,EVC,FGFR3,DGKQ,CRMP1,NSG1,GPR78,OR7E43P,STX18,LYAR,CYTL1,BLOC1S4,SH3TC1,FGFRL1,STK32B,NKX1-1,PIGG,SORCS2,ZFYVE28,UVSSA,AFAP1,TBC1D14,HAUS3,TNIP2,OR7E99P,TMEM175,ABLIM2,GRPEL1,SLC49A3,ABCA11P,TADA2B,CTBP1-DT,HTRA3,MRFAP1,TMEM128,TMEM129,AFAP1-AS1,MRFAP1L1,EVC2,JAKMIP1,TRMT44,FAM53A,ZNF595,OTOP1,ZNF721,ZBTB49,HTT,IDUA,HGFAC,HMX1,GAK,GRK4,OR7E103P,ZNF718,CCDC96,RNF212,LINC00955,NOP14-AS1,JAKMIP1-DT,MSANTD1,NAT8L,DOK7,CTBP1-AS,LINC02481,C4orf50,FAM86EP,POLN,C4orf48,CFAP99,MIR95,OR7E162P,ZNF876P,UNC93B4,MIR571,RPS7P15,RPS3AP16,SCARNA22,ALG1L7P,ZNF732,GMPSP1,PSAPL1,LINC02447,MIR943,LETM1,LRPAP1,MYL5,LDHAP1,MSX1,LINC02171,OR7E163P,COX6B1P5,TMED11P,ENPP7P9,MIR4274,MIR378D1,STX18-AS1,MIR4800,RNA5SP152,HTT-AS,MIR4798,PPP2R2C,S100P,RNF4,RGS12,PDE6B,PDE6B-AS1,STX18-IT1,LINC01396,LINC02517,LINC02482,RN7SKP292,NSD2,WFS1,SH3BP2,NELFA,RN7SL589P,RN7SKP275,RN7SKP113,RN7SKP36,RNU6-204P,ZNF519P4,LINC02600,TMEM271,ACOX3,SLBP,NOP14,FAM193A,ZNF141,CPZ,MFSD10,KIAA0232,LINC01587,MAEA,TACC3,MXD4,SPON2,SLC26A1,CPLX1,PCGF3,MAN2B2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown160
 
 
 De novo
 Unknown
 Unknown
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,POLN,HTT,OTOP1,STK32B,WFS1
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530478
 
 
 Unknown
 
 
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,FGFR3,CTBP1,CRMP1,OR7E43P,GPR78,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,SH3TC1,PIGG,BLOC1S4,TBC1D14,UVSSA,ZFYVE28,AFAP1,SORCS2,HAUS3,TNIP2,ABLIM2,OR7E99P,ABCA11P,SLC49A3,GRPEL1,TMEM175,TMEM129,TMEM128,AFAP1-AS1,HTRA3,CTBP1-DT,MRFAP1,TADA2B,MRFAP1L1,FAM53A,EVC2,OTOP1,TRMT44,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,HMX1,OR7E103P,ZNF718,CCDC96,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,C4orf50,FAM86EP,POLN,C4orf48,USP17L9P,USP17L6P,CFAP99,MIR95,OR7E162P,ZNF876P,UNC93B4,USP17L27,RPS7P15,USP17L30,USP17L25,USP17L28,MIR571,OR7E85BP,GMPSP1,ALG1L7P,ZNF732,USP17L29,USP17L5,USP17L26,RPS3AP16,USP17L24,SCARNA22,PSAPL1,LINC02447,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,DEFB108F,LINC02171,OR7E163P,USP17L15,USP17L10,USP17L20,OR7E111FP,USP17L11,USP17L21,USP17L12,USP17L22,USP17L16P,USP17L14P,FAM90A26,USP17L19,FAM86KP,USP17L17,USP17L18,USP17L13,TMED11P,COX6B1P5,ENPP7P9,ENPP7P10,MIR4274,MIR4800,STX18-AS1,MIR378D1,RNA5SP152,HTT-AS,RNA5SP153,MIR4798,UNC93B8,ALG1L14P,USP17L23,BNIP3P41,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC01396,STX18-IT1,LINC02517,LINC02482,RN7SKP292,NSD2,NELFA,WFS1,SH3BP2,SNRPCP16,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP36,RN7SKP113,ZNF519P4,LINC02600,DEFB130D,TMEM271,FAM193A,ACOX3,NOP14,SLBP,ZNF141,CPZ,MFSD10,KIAA0232,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 miclea_22_DD/ID_discovery_cases-case90
 
 
 Unknown
 
 
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,FGFR3,CTBP1,CRMP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,SH3TC1,PIGG,BLOC1S4,TBC1D14,UVSSA,ZFYVE28,AFAP1,SORCS2,HAUS3,TNIP2,ABLIM2,OR7E99P,ABCA11P,SLC49A3,GRPEL1,TMEM175,TMEM129,TMEM128,AFAP1-AS1,HTRA3,CTBP1-DT,MRFAP1,TADA2B,MRFAP1L1,FAM53A,EVC2,OTOP1,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,CCDC96,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,C4orf50,FAM86EP,POLN,C4orf48,CFAP99,MIR95,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,GMPSP1,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,PSAPL1,LINC02447,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4274,MIR4800,STX18-AS1,MIR378D1,HTT-AS,MIR4798,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC01396,STX18-IT1,LINC02517,LINC02482,RN7SKP292,NSD2,NELFA,WFS1,SH3BP2,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP36,RN7SKP113,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,KIAA0232,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 mitani_21_DD/ID_discovery_cases-caseBAB13582
 aCGH and/or ddPCR
 
 De novo
 Simplex
 Segregated
 ADD1,ADRA2C,ATP5ME,EVC,DGKQ,FGFR3,CTBP1,CRMP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,PIGG,BLOC1S4,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,TMEM128,CTBP1-DT,MRFAP1,MRFAP1L1,FAM53A,EVC2,OTOP1,ZNF595,JAKMIP1,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,LINC02481,NOP14-AS1,JAKMIP1-DT,RNF212,MSANTD1,C4orf50,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,MIR378D1,HTT-AS,RNF4,RGS12,PDE6B,S100P,PPP2R2C,PDE6B-AS1,LINC01396,STX18-IT1,LINC02482,NSD2,NELFA,WFS1,SH3BP2,RN7SL589P,RN7SKP275,RNU6-204P,RN7SKP113,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,LINC01587,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1,MAN2B2
 
 pinto_14_ASD_discovery_cases2-case21020_1
 qPCR, FISH
 
 De novo
 Simplex
 (not tested)
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 poultney_13_ASD_discovery_cases-case99HI1083A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,OTOP1,STK32B,WFS1
 
 sagar_17_ASD/ADHD/OCD_discovery_cases-case1
 qPCR, FISH
 
 De novo
 Simplex
 Segregated
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 sansovic_17_DD/ID/ASD_discovery_cases-case14
 
 
 De novo
 
 
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 sansovic_17_DD/ID/ASD_discovery_cases-case17
 
 
 De novo
 
 
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 
 szatmari_07_ASD_discovery_cases-NAAR062-H3-HI1083
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,POLN,HTT,OTOP1,STK32B,WFS1
 
 tzetis_12_DD/ID_discovery_cases-case13
 
 
 De novo
 Unknown
 
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2
 
 tzetis_12_DD/ID_discovery_cases-case78
 
 
 Unknown
 Unknown
 
 MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,ACOX3
 

Controls

No Control Data Available
No Animal Model Data Available
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