Xp22.11CNV Type: Deletion-Duplication
Largest CNV size: 388006 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
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
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports
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
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
Deletion
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
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
montanaro_24_ASD/DD/ID_discovery_cases
A 7-year-old male patient carrying a maternally-inherited Xp22.11 microdeletion affecting the PTCHD1 gene (from an initial cohort of 4 indiviiduals with PTCHD1 variants, all of whom were recruited at the Child and Adolescent Psychiatry Unit and Genetics and Rare Diseases Research Division of the Bambino Ges Childrens Hospital, Rome).
1
Case diagnosed with autism spectrum disorder and Mixed Emotions and Conduct Severe Disorder and presented with developmental delay and intellectual disability.
7 yrs.
Male
80045
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
scala_25_ASD_discovery_cases
Individuals from eight unrelated families enrolled at several different international research centers and hospitals with rare, maternally-inherited predicted damaging or loss-of-function variants in the DDX53 gene.
10
All ten individuals were diagnosed with ASD (for ASD assessment, thorough clinical examination and dedicated tests were employed, such as the Autism Diagnostic Interview-Revised (ADI-R) and Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R)).
Range, 6-52 yrs.
80% Male
301190
2
0
2
scala_25_ASD_replication_cases
Individuals with ASD from the SSC, SPARK, and MSSNG cohorts screened for DDX53 variants.
42378
All SSC, SPARK, and MSSNG cases were diagnosed with ASD.
41233
8
0
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
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
montanaro_24_ASD/DD/ID_discovery_cases
Italy
aCGH
Agilent 4x180K
Agilent CytoGenomics v.4.0.3.12.
RT-PCR
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
scala_25_ASD_discovery_cases
France, Italy, and United States
aCGH
CytoSure Oligo*ISCA v.2 Array 8x60
scala_25_ASD_replication_cases
United States
WES, WGS
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
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
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
montanaro_24_ASD/DD/ID_discovery_cases-caseFam1-II-1
7 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born at term by induced birth with APGAR scores of 7 and 10, birth weight 2450 g, birth length 52 cm, and birth OFC 34 cm. Developmental milestones: developmental delay reported as early as 3 months of age; delayed ability to sit (12 months), delayed ability to crawl (19 months), delayed ability to walk (27 months). Behavioral/psychiatric evaluation: diagnosed with autism spectrum disorder and Mixed Emotions and Conduct Severe Disorder. Additional medical history: malocclusion with increased overjet and atypical swallowing.
Intellectual disability (IQ 64)
23365175
23445219
80045
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
scala_25_ASD_discovery_cases-caseFamVIII-10
52 yrs.
F
ASD and OCD
Behavioral/psychiatric evaluation: high-functioning autism, obsessive-compulsive disorder (OCD), eating disorders. Family history: son diagnosed with ASD (ADOS-2; high-functioning autism) and presenting with mild developmental delay, mild speech delay, and avoidance of eye contact.
22863246
23164435
301190
GRCh38
Deletion
No
scala_25_ASD_discovery_cases-caseFamVIII-9
12 yrs.
M
ASD and developmental delay
Developmental milestones: mild developmental delay with mild speech delay. Behavioral/psychiatric evaluation: diagnosis of ASD (ADOS-2; high-functioning autism), avoidance of eye contact. Family history: mother with high-functioning autism, obsessive-compulsive disorder (OCD), and eating disorders.
22863246
23164435
301190
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case1-0485-003
F
ASD
ASD proband from a simplex cohort from the MSSNG cohort
22987677
23009507
21831
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case1-0627-003
M
ASD and ADHD
One of five ASD-affected brothers from a multiplex family from the MSSNG cohort; all four brothers with the Xp22.11 deletion also presented with ADHD.
23002148
23002522
375
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case1-0627-005
M
ASD and ADHD
One of five ASD-affected brothers from a multiplex family from the MSSNG cohort; all four brothers with the Xp22.11 deletion also presented with ADHD.
23002148
23002522
375
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case1-0627-006
M
ASD and ADHD
One of five ASD-affected brothers from a multiplex family from the MSSNG cohort; all four brothers with the Xp22.11 deletion also presented with ADHD.
23002148
23002522
375
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case1-0627-007
M
ASD and ADHD
One of five ASD-affected brothers from a multiplex family from the MSSNG cohort; all four brothers with the Xp22.11 deletion also presented with ADHD.
23002148
23002522
375
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case5-5248-003
M
ASD
ASD proband from the MSSSG cohort
22962561
23003793
41233
GRCh38
Deletion
No
scala_25_ASD_replication_cases-case7-0111-003
M
ASD
ASD proband from a simplex family from the MSSNG cohort
23002082
23002458
377
GRCh38
Deletion
No
scala_25_ASD_replication_cases-caseSP0007407
M
ASD
ASD proband from a simplex family from the SPARK cohort
22975713
23013522
37810
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
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
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
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
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
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
montanaro_24_ASD/DD/ID_discovery_cases-caseFam1-II-1
RT-PCR
Maternal
Simplex
PTCHD1
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
scala_25_ASD_discovery_cases-caseFamVIII-10
Unknown
Simplex
Segregated
DDX53,FAM3C2P
scala_25_ASD_discovery_cases-caseFamVIII-9
Maternal
Maternal
Simplex
Segregated
DDX53,FAM3C2P
scala_25_ASD_replication_cases-case1-0485-003
Maternal
Simplex
DDX53
scala_25_ASD_replication_cases-case1-0627-003
Maternal
Multiplex
DDX53
scala_25_ASD_replication_cases-case1-0627-005
Maternal
Multiplex
DDX53
scala_25_ASD_replication_cases-case1-0627-006
Maternal
Multiplex
DDX53
scala_25_ASD_replication_cases-case1-0627-007
Maternal
Multiplex
DDX53
scala_25_ASD_replication_cases-case5-5248-003
Maternal
Unknown
DDX53
scala_25_ASD_replication_cases-case7-0111-003
Unknown
Simplex
DDX53
scala_25_ASD_replication_cases-caseSP0007407
Maternal
Simplex
DDX53
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