HELP     Sign In

Xp22.11CNV Type: Deletion-Duplication


Largest CNV size: 388006 bp

Statistics Box:
Number of Reports: 17



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
NA
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chaudhry_14_ASD/DD/ID_discovery_cases
 Individuals with PTCHD1 deletions (Xp22.11 locus) not previously published
 11
 Most common diagnoses: ASD or autistic features, developmental delay (DD), and intellectual disability (ID)
 Range, 1.25-10 yrs.
 90.91% Male
 963000
 11
 0
 11
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 524952
 8
 2
 10
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 38519
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 489226
 2
 2
 4
 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
 10632
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 401141
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 357685
 2
 0
 2
 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
 132000
 1
 1
 2
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 156200
 1
 0
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 202000
 1
 2
 3
 noor_10_ADHD_discovery_cases
 Unrelated ADHD patients recruited through Dept. of Psychiatry at the Hospital for Sick Children, Toronto
 167
 ADHD
 
 68.3% Male
 388006
 1
 0
 1
 noor_10_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 81.0% Male
 167543
 1
 0
 1
 noor_10_ID_discovery_cases
 Male patients with intellectual disability recruited from UK, United States, Australia, Europe, and South Africa
 246
 Intellectual disability (ID)
 
 100% Male
 90203
 1
 0
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 385530
 7
 0
 7
 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
 365468
 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
 165103
 4
 2
 6
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 354488
 7
 1
 8
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 10000
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 1166099
 4
 0
 4
 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
 1169106
 5
 0
 5

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 639566
 3
 2
 5
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 408269
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 63210
 1
 0
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 noor_10_ASD/ID_discovery_controls
 Male controls from PopGen (623), Ontario, Canada (586), CEPH (30), CHOP (589), CAMH/GSK (158), SAGE (383), and Wellcome Trust (2460)
 4829
 Controls
 
 100% Male
 20600
 1
 0
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 29645
 1
 0
 1
 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)
 165103
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 388829
 8
 1
 9

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 chaudhry_14_ASD/DD/ID_discovery_cases
  Predominantly Caucasian
 aCGH, array SNP
  Agilent 60K, custom-designed 105K microarray, Agilent 105K, BlueGnome 60K, Agilent 180K, OGT 180K, Affymetrix CytoScan HD
 
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 noor_10_ADHD_discovery_cases
  88% European ancestry
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 qPCR
 noor_10_ASD_discovery_cases
  >90% European ancestry
 Array SNP
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR
 noor_10_ID_discovery_cases
  Not available
 aCGH
  NimbleGen 385K
 ADM-1
 CGH Analytics v3.4
 qPCR
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 qPCR
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  noor_10_ASD/ID_discovery_controls
  Predominantly European ancestry
  Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina 550K, Illumina 1M BeadChip
 
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chaudhry_14_ASD/DD/ID_discovery_cases-caseC1
 1.5 yrs.
 M
 Developmental delay and autistic features
 Psychiatric/behavioral disorders: autistic features. Neurological features: hypotonic face. Dysmorphic features: epicanthal folds, thin upper lip. Growth abnormalities: none.
 Developmental/cognitive functioning: global developmental delay; mental age of 17 months at age of 1.5 years.
 22543121
 23344359
  801239
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseC2
 6 yrs.
 M
 Developmental delay/intellectual disability
 Psychiatric/behavioral disorders: none. Neurological features: hypotonic face. Dysmorphic features: upslanted palpebral fissures, metopic ridge. Growth abnormalities: none.
 Developmental/cognitive functioning: global developmental delay; mild intellectual disability (IQ of 67).
 22543121
 23344359
  801239
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseD1
 4.9 yrs.
 M
 Developmental delay
 Psychiatric/behavioral disorders: none. Neurological features: bilateral increased tone in upper extremities at age of 4 years 11 months. Dysmorphic features: plagiocephaly, metopic ridge, downturned corners of the mouth, midface hypoplasia, hypoplastic alae nasae, flattened nasal tip, upturned ear lobes, slender figners, clinodactyly of the 5th fingers. Growth abnormalities: absolute microcephaly (head circumference <3rd %ile).
 Developmental/cognitive functioning: moderate global developmental delay.
 23218889
 23365235
  146347
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseE1
 2.5 yrs.
 M
 Developmental delay
 Psychiatric/behavioral disorders: none. Neurological features: hypotonic face, broad based gait. Dysmorphic features: epicanthal folds. Growth abnormalities: none.
 Developmental/cognitive functioning: mild global developmental delay.
 23092817
 23393046
  300230
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseH1
 2.6 yrs.
 M
 Developmental delay
 Psychiatric/behavioral disorders: unknown. Neurological features: hypotonic face. Dysmorphic features: cupped ears, bilateral 5th finger clinodactyly, fetal finger pads, spatulate fingers and toenails. Growth abnormalities: none.
 Developmental/cognitive functioning: global developmental delay.
 22942626
 23445220
  502595
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseI1
 1.25 yrs.
 M
 Motor delay
 Psychiatric/behavioral disorders: none. Neurological features: hypotonic face, bilateral increased tone in arms and legs. Dysmorphic features: deep set eyes with hooded lids, left naso-labial flattening. Growth abnormalities: none.
 Developmental/cognitive functioning: isolated motor delay.
 23313067
 23586129
  273063
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseJ1
 4 yrs.
 M
 Developmental delay and autistic features
 Psychiatric/behavioral disorders: autistic features. Neurological features: hypotonic face, hypotonia. Dysmorphic features: straight eyebrows, epicanthal folds, bifid tongue. Growth abnormalities: early failure-to-thrive, macrocephaly.
 Developmental/cognitive functioning: global developmental delay.
 23146305
 23558115
  411811
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseK1
 5 yrs.
 F
 ASD
 Psychiatric/behavioral disorders: ASD. Neurological features: none. Dysmorphic features: none. Growth abnormalities: none.
 Developmental/cognitive functioning: isolated speech delay.
 22668654
 23336538
  667885
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseL1
 10 yrs.
 M
 ASD, developmental delay, and ID
 Psychiatric/behavioral disorders: ASD, mood swings, aggressive behaviors, impulsivity. Neurological features: hypotonic face, intention tremor. Dysmorphic features: prominent ears with simple and superior helices, deep set eyes, prominent upper central incisors, pointed chin, bilateral 5th finger clinodactyly. Growth abnormalities: relative microcephaly (head circumference 10th %ile).
 Developmental/cognitive functioning: global developmental delay; mild intellectual disability (IQ 60-70).
 23178211
 23507226
  329016
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseM1
 2.8 yrs.
 M
 ASD
 Psychiatric/behavioral disorders: ASD. Neurological features: none. Dysmorphic features: frontal bossing, supraorbital puffiness, full lips. Growth abnormalities: none.
 Developmental/cognitive functioning: fine motor and speech delays.
 22377522
 23340296
  962775
 GRCh38
 Deletion
 No
  chaudhry_14_ASD/DD/ID_discovery_cases-caseN1
 8 yrs.
 M
 Developmental delay and ADHD
 Psychiatric/behavioral disorders: ADHD, anxiety disorder. Neurological features: none. Dysmorphic features: mildly overfolded and squared off ears. Growth abnormalities: none.
 Developmental/cognitive functioning: global developmental delay; learning disability.
 23346806
 23393017
  46212
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1258_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24159323
 24684275
  524953
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case13047_563
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22901145
 23286674
  385530
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14071_1240
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 24310068
 24443937
  133870
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16076_1571045001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22840443
 23205910
  365468
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case3253_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22932186
 22979416
  47231
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3424_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23085212
 23188150
  102939
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5065_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22932186
 22995542
  63357
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5111_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22916132
 22969676
  53545
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5240_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23188150
 23352590
  164441
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5298_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22964342
 23085456
  121115
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1607308
 
 
 Autism
 
 
 23123682
 23162200
  38519
 Unknown
 Hemizygous Deletion
 No
  gai_11_ASD_replication_cases-AU004104
 
 
 Autism
 
 
 22700084
 22929267
  229184
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU004105
 
 
 Autism
 
 
 22708824
 22929267
  220444
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU069303
 
 
 Autism
 
 
 24096910
 24578188
  481279
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU069304
 
 
 Autism
 
 
 24088963
 24578188
  489226
 Unknown
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002148
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22099135
 22109767
  10633
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13576.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23334875
 23736016
  401142
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11158.p1
 NA
 M
 ASD
 NA
 NA
 22985159
 23048368
  63210
 GRCh38
 Deletion
 No
  levy_11_ASD_discovery_cases-12561.p1
 NA
 M
 ASD
 NA
 NA
 22926413
 23284097
  357685
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case152
  NA NA
 17 yrs.
 M
 Language delay and language disorder
 Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: pes planus. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: N/A. Additional medical history: ematologic anomalies. Dysmorphic features: ears with attached earlobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
 Normal (no intellectual disability or learning disorder)
 22774426
 22888591
  114166
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown223
  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 variant of unknown significance-likely benign (VOUS-LB), CNV reported as Xp22.1 in original report
 
 22942627
 23075071
  132445
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0186-004
 NA
 M
 ASD
 NA
 NA
 23185026
 23341226
  156201
 GRCh38
 Deletion
 Yes
  nava_13_ASD_discovery_cases-Fam1039Proband10765
 N/A
 M
 ASD
 Additional clinical profile info N/A
 No ID
 23832676
 23844880
  12205
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam1132Proband10776
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 22900750
 23103066
  202317
 GRCh38
 Deletion
 No
  nava_13_ASD_discovery_cases-Fam834Proband10767
 N/A
 M
 ASD
 Additional clinical profile info N/A
 ID
 23832676
 23844880
  12205
 GRCh38
 Duplication
 No
  noor_10_ADHD_discovery_cases-1-27075
 NA
 M
 ADHD
 ADHD, broad autism phenotype: some ASD features (disinterest in social relationships, etc.), but no evidence of restricted, repetitive, or stereotyped behaviors
 Non-verbal learning disability; verbal IQ 131, performance IQ 113
 22750776
 23138781
  388006
 GRCh38
 Deletion
 Yes
  noor_10_ASD_discovery_cases-1-0186
 NA
 M
 Autism
 Autism; ADHD; PLS-3:86 (18%); VABS: COM=88 (21%), DLS=79 (8%), SOC=80 (9%), MOT=75 (5%), ABC=74 (4%)
 Leiter-R brief IQ: 97
 23186141
 23353685
  167545
 GRCh38
 Deletion
 Yes
  noor_10_ID_discovery_cases-GOLD540
 NA
 M
 Intellectual disability (ID)
 Non-ASD intellectual disability
 Moderate/severe ID
 23310970
 23401172
  90203
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case13047_563
 NA
 M
 ASD
 No dysmorphic features, history of allergies and recurrent ear infections
 Normal IQ
 22901145
 23286674
  385530
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case3253_004
 NA
 M
 Autism
 NA
 Mild MR
 22932186
 22979416
  47231
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case3424_003
 NA
 M
 Autism
 Relative macrocephaly, no dysmorphic features
 Mild MR
 23085212
 23188150
  102939
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5065_3
 NA
 M
 Autism
 Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
 Below average nonverbal IQ (<1%ile)
 22932186
 22995542
  63357
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5111_3
 NA
 M
 Autism
 Language delay, nonverbal at age 8, no epilepsy, physical examination normal except for some mild dysmorphic facial features and a large head circumference; brain MRI normal
 Below average nonverbal IQ (<1%ile)
 22916132
 22969676
  53545
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5240_4
 NA
 M
 Autism
 Low average language (18%ile), no epilepsy, sleep problems, no dysmorphic features. DZ twin brother: Autism, average IQ
 Average nonverbal IQ (42%ile)
 23188150
 23352590
  164441
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5298_3
 NA
 M
 Autism
 Severe language impairment, speech and oral motor deficit; possible history of seizures; pes planus and genu varus bilaterally, no other dysmorphic features; normal brain CT scan
 Moderate MR
 22964342
 23085456
  121115
 GRCh38
 Deletion
 Yes
  pinto_14_ASD_discovery_cases2-case16076_1571045001
 36 yrs.
 M
 ASD
 Autism (autism on ADI-R and ADOS), language delay (first words 21 mo, first phrases 60 mo), verbal, normal physical exam, no seizure history. Family history: father unaffected; mother with OCD and depression.
 Borderline IQ (WISC-III at 36 y: VIQ 68, PIQ 82, FSIQ 73)
 22840443
 23205910
  365468
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case114079L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 23115454
 23280556
  165103
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case124632L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22843253
 22899471
  56219
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case139353L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 23760070
 23778530
  18461
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case170300
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 23761433
 23778530
  17098
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60836
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22861306
 22924245
  62940
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case91548L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 22891206
 23015297
  124092
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 21880724
 21926306
  45583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11158.p1
 10.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
 22979416
 23060195
  80780
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 22837945
 22843017
  5073
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 23195644
 23212531
  16888
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12215.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 113; verbal IQ, 96
 22780786
 22989661
  208876
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12417.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
 22520453
 22586807
  66355
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12561.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 101; verbal IQ, 103
 22932186
 23286674
  354489
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-12670.p1
 10.5
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 22892274
 23096244
  203971
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case26
 
 M
 ASD and developmental delay
 Trichonocephaly, IUGR, hypermetropia, asthma
 Developmental delay
 22081961
 22181962
  100002
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case1-0186-004
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: sleep problems, ADHD; sensory integration dysfunction, globally developmentally delayed, nose bleeds, ear infections, mildly hypotonic
 
 23185883
 23353883
  168001
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case1-0186-005
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: LD; language delay, large birth mark on leg under knee, allergic to dogs, mild ataxia, developmental delay, communication problems
 
 23185883
 23353883
  168001
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case1-0277-003
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: N/A
 
 22962378
 23087629
  125252
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case1-0779-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
 
 22646284
 23812383
  1166100
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0186-004
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23186024
 23355688
  169665
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0186-005
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23186024
 23355688
  169665
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0779-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 22642857
 23811962
  1169106
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8257-001
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23025759
 23116119
  90361
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8257-004
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23025759
 23106863
  81105
 GRCh38
 Deletion
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB467732_1007842340
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23723769
  23756974
  33206
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB536568_1007854032
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24267943
  24907509
  639567
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900892_900892
  N/A
  N/A
  Control
  No previous psychiatric history
 
  22766437
  23071729
  305293
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900969_900969
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23519668
  23640783
  121116
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902745_902745
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23515464
  23640783
  125320
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control12078.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  24310861
  24562505
  251645
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13576.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  23334875
  23743144
  408270
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11158.s1
  NA
  M
  Control
  NA
  NA
  22985159
  23048368
  63210
  GRCh38
  Deletion
  No
  nord_11_ASD_discovery_controls-04C27275
 
 
  Control
 
 
  22842293
  22871937
  29645
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  23044941
  23052684
  7744
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11158.s1
  11.6
  M
  Control (matched sibling)
  NA
  NA
  22975237
  23060876
  85640
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  22836638
  22843017
  6380
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11334.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  23016184
  23036024
  19841
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11432.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  23195644
  23212531
  16888
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12078.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  24323962
  24562629
  238668
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  23658174
  23666091
  7918
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12372.s1
  13.5
  F
  Control (matched sibling)
  NA
  NA
  22656911
  23045740
  388830
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  22250255
  22265729
  15475
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 chaudhry_14_ASD/DD/ID_discovery_cases-caseC1
 
 
 Maternal
 Multiplex
 Possible X-linked segregation
 FAM3C2,PDCL2P1,DDX53,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseC2
 
 
 Maternal
 Multiplex
 Possible X-linked segregation
 FAM3C2,PDCL2P1,DDX53,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseD1
 
 
 Maternal
 Unknown
 Unknown
 PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseE1
 
 
 Maternal
 Unknown
 Unknown
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseH1
 
 
 Maternal
 Unknown
 Unknown
 FAM3C2,PDCL2P1,DDX53,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseI1
 
 
 Maternal
 Unknown
 Unknown
 PTCHD1
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseJ1
 
 
 De novo
 Unknown
 Possibly segregated
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseK1
 
 
 Maternal
 Unknown
 Unknown
 FAM3C2,PDCL2P1,DDX53,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseL1
 
 
 Maternal
 Unknown
 Unknown
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseM1
 
 
 Maternal
 Unknown
 Unknown
 METTL15P3,RNU6-266P,FAM3C2,PDCL2P1,DDX53,PTCHD1,PTCHD1-AS
 
 chaudhry_14_ASD/DD/ID_discovery_cases-caseN1
 
 
 Maternal
 Unknown
 Unknown
 PTCHD1
 
 engchuan_15_ASD_discovery_cases-case1258_4
 
 
 Unknown
 
 
 SUPT20HL2,SNRPEP9,ZFX,SUPT20HL1,PCYT1B-AS1,PDK3,PCYT1B
 
 engchuan_15_ASD_discovery_cases-case13047_563
 
 
 Unknown
 
 
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case14071_1240
 
 
 Unknown
 
 
 SUPT20HL2,SUPT20HL1
 
 engchuan_15_ASD_discovery_cases-case16076_1571045001
 
 
 De novo
 
 
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case3253_4
 
 
 Unknown
 
 
 PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case3424_3
 
 
 Unknown
 
 
 PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case5065_3
 
 
 Unknown
 
 
 PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case5111_3
 
 
 Unknown
 
 
 PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case5240_4
 
 
 Unknown
 
 
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 engchuan_15_ASD_discovery_cases-case5298_3
 
 
 Unknown
 
 
 FAM3C2,DDX53,PTCHD1-AS
 
 gai_11_ASD_discovery_cases-AU1607308
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU004104
 
 
 Inherited
 
 
 DDX53
 
 gai_11_ASD_replication_cases-AU004105
 
 
 Inherited
 
 
 DDX53
 
 gai_11_ASD_replication_cases-AU069303
 
 
 Inherited
 
 
 ZFX, FAM48B2, FAM48B1, PDK3, PCYT1B
 
 gai_11_ASD_replication_cases-AU069304
 
 
 Inherited
 
 
 ZFX, FAM48B2, FAM48B1, PDK3, PCYT1B
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002148
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PHEX
 
 krumm_15_ASD_discovery_cases-case13576.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 PTCHD1,PRDX4,ACOT9
 
 levy_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex
 Not segregated
 DDX53,PTCHD1-AS
 
 levy_11_ASD_discovery_cases-12561.p1
 
 
 De novo
 Simplex
 Segregated
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 maini_18_ASD/DD/ID_discovery_cases-case152
 
 
 Maternal
 Simplex
 Unknown
 PTCHD1-AS
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown223
 
 
 Unknown
 Unknown
 Unknown
 DDX53,PTCHD1-AS
 
 marshall_08_ASD_discovery_cases-SK0186-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 nava_13_ASD_discovery_cases-Fam1039Proband10765
 
 
 Maternal
 Simplex
 Unknown
 RPL9P7,APOO
 
 nava_13_ASD_discovery_cases-Fam1132Proband10776
 
 
 Maternal
 Simplex
 Unknown
 FAM3C2,DDX53,PTCHD1-AS
 
 nava_13_ASD_discovery_cases-Fam834Proband10767
 
 
 Maternal
 Simplex
 Unknown
 RPL9P7,APOO
 
 noor_10_ADHD_discovery_cases-1-27075
 qPCR
 
 Maternal
 Simplex
 NA
 FAM3C2,DDX53,PTCHD1-AS
 
 noor_10_ASD_discovery_cases-1-0186
 qPCR
 
 Maternal
 Simplex (dizygotic twin with ASD features and learning disability)
 Not segregated (non-ASD sibling with deletion)
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 noor_10_ID_discovery_cases-GOLD540
 qPCR
 
 Maternal
 Multiplex
 Segregated
 PTCHD1
 
 pinto_10_ASD_discovery_cases-case13047_563
 qPCR-Maternal
 
 maternal
 Multiplex
 Unknown
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case3253_004
 qPCR-Maternal
 
 Unknown
 Multiplex
 Not segregated
 PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case3424_003
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case5065_3
 qPCR-Maternal,Agilent1M
 
 maternal
 Multiplex
 Not segregated
 PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case5111_3
 qPCR-Maternal,Agilent1M
 
 maternal
 Multiplex
 Not segregated
 PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case5240_4
 Agilent1M-Maternal
 
 maternal
 Multiplex (DZ twin with autism)
 NA
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 pinto_10_ASD_discovery_cases-case5298_3
 qPCR-Maternal,Agilent1M
 
 maternal
 Simplex
 NA
 FAM3C2,DDX53,PTCHD1-AS
 
 pinto_14_ASD_discovery_cases2-case16076_1571045001
 qPCR
 
 De novo
 Simplex
 (1 unaffected sibling, not tested)
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 prasad_12_ASD_discovery_cases-case114079L
 
 
 Unknown
 Unknown
 Unknown
 PTCHD1
 
 prasad_12_ASD_discovery_cases-case124632L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case139353L
 
 
 Unknown
 Unknown
 Unknown
 APOO
 
 prasad_12_ASD_discovery_cases-case170300
 
 
 Unknown
 Unknown
 Unknown
 APOO
 
 prasad_12_ASD_discovery_cases-case60836
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case91548L
 
 
 Unknown
 Unknown
 Unknown
 DDX53
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MBTPS2
 
 sanders_11_ASD_discovery_cases-11158.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DDX53,PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PDCL2P1,PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-12215.p1
 
 
 Maternal
 Simplex (trio)
 NA
 PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-12417.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RNU6-266P,PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-12561.p1
 qPCR
 
 De Novo
 Simplex (quad-proband matched)
 Segregated
 FAM3C2,PDCL2P1,DDX53,PTCHD1-AS
 
 sanders_11_ASD_discovery_cases-12670.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FAM3C2,DDX53,PTCHD1-AS
 
 willemsen_12_DD/ID_discovery_cases-case26
 
 
 Maternal
 
 
 PHEX-AS1,PHEX
 
 yuen_17_ASD_discovery_cases-case1-0186-004
 Affymetrix CytoScan HD
 
 Maternal
 Multiplex
 Possibly segregated
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 yuen_17_ASD_discovery_cases-case1-0186-005
 Affymetrix CytoScan HD
 
 Maternal
 Multiplex
 Possibly segregated
 PDCL2P1,PTCHD1,PTCHD1-AS
 
 yuen_17_ASD_discovery_cases-case1-0277-003
 Illumina1M
 
 Maternal
 Simplex
 Unknown
 FAM3C2,DDX53,PTCHD1-AS
 
 yuen_17_ASD_discovery_cases-case1-0779-003
 Affymetrix CytoScan HD
 
 Unknown
 Simplex
 Unknown
 FAM3C2,PDCL2P1,SAT1,DDX53,PTCHD1,PRDX4,ACOT9,PTCHD1-AS
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0186-004
 RT-qPCR or WGS
 
 Maternal
 
 
 PDCL2P1,PTCHD1,PTCHD1-AS
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0186-005
 RT-qPCR or WGS
 
 Maternal
 
 
 PDCL2P1,PTCHD1,PTCHD1-AS
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0779-003
 RT-qPCR or WGS
 
 Unknown
 
 
 FAM3C2,PDCL2P1,SAT1,DDX53,PTCHD1,PRDX4,ACOT9,PTCHD1-AS
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8257-001
 RT-qPCR or WGS
 
 Maternal
 
 
 FAM3C2,PTCHD1-AS
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case12-8257-004
 RT-qPCR or WGS
 
 Maternal
 
 
 FAM3C2,PTCHD1-AS
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
 
 
  Unknown
 
 
  ACOT9
 
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
 
 
  Unknown
 
 
  SUPT20HL2,SNRPEP9,SCARNA23,SUPT20HL1,PCYT1B-AS1,EEF1B2P3,PDK3,PCYT1B,POLA1
 
engchuan_15_ASD_discovery_controls-controlHABC_900892_900892
 
 
  Unknown
 
 
  DDX53,PTCHD1-AS
 
engchuan_15_ASD_discovery_controls-controlHABC_900969_900969
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902745_902745
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control12078.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SUPT20HL2,SNRPEP9,SUPT20HL1,PDK3,PCYT1B
 
krumm_15_ASD_discovery_controls-control13576.s1
  1M-Duov3
 
  Paternal
 
 
  PTCHD1,PRDX4,ACOT9
 
levy_11_ASD_discovery_controls-11158.s1
 
 
  Maternal
  Simplex
  NA
  DDX53,PTCHD1-AS
 
nord_11_ASD_discovery_controls-04C27275
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PTCHD1-AS
 
sanders_11_ASD_discovery_controls-11158.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DDX53,PTCHD1-AS
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PTCHD1-AS
 
sanders_11_ASD_discovery_controls-11334.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PTCHD1-AS
 
sanders_11_ASD_discovery_controls-11432.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PDCL2P1,PTCHD1-AS
 
sanders_11_ASD_discovery_controls-12078.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SNRPEP9,SUPT20HL1,PDK3,PCYT1B
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PRDX4
 
sanders_11_ASD_discovery_controls-12372.s1
 
 
  Both parents
  Simplex (quad)
  NA
  DDX53,PTCHD1-AS
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PHEX,PTCHD1-AS
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.