3p26.3-p26.2CNV Type: Duplication
Largest CNV size: 2400000 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Disruption of Contactin 4 in two subjects with autism in Chinese population.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
2887967
0
1
1
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
1023699
0
1
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
1023700
0
1
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
1680137
0
1
1
guo_12_ASD_discovery_cases
Autistic probands recruited from the Outpatient Department of Mental Health Institute at the Second Xiangya Hospital of Central South University, Changsha, China
2
Diagnosis of autism by experienced psychiatrists according to DSM-IV-TR criteria for autism and assessed by neurological evaluations, mental status examinations, Childhood Autism Rating Scale (CARS), and chromosomal karyotype analysis.
Range, 6-7 yrs.
Male
2400000
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
2402592
0
1
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
929374
0
1
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
248250
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
4644944
2
2
4
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
900000
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
331506
0
1
1
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
713232
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
506000
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
106640
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
2043999
0
2
2
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
2049392
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
72971
1
0
1
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
150047
2
0
2
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
106640
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
guo_12_ASD_discovery_cases
Han Chinese
Solid phase hybridization
Illumina HumanCNV370-Quad BeadChip
PennCNV
FISH
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case27C
15 yrs.
F
Short stature
Short stature
20213
2908179
2887967
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case5
4.33 yrs.
F
Expressive language disorder. Growth parameters: height 0.85 m, weight N/A, head circumference 45 cm. Family history: no data on familial consanguinity.
2299060
3322758
1023699
GRCh38
Duplication
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case334
4.33 yrs.
F
Developmental delay
Developmental milestones: delayed speech and language development (HP:0000750). Behavioral/psychiatric evaluation: atypical behavior (HP:0000708). Growth parameters: head circumference 45 cm, height 85 cm (no data on weight).
2299059
3322758
1023700
GRCh38
Duplication
No
feliciano_19_ASD_discovery_cases-caseSP0012174
N/A
M
ASD
Family history: mother presents with anxiety and depression.
1220686
2900822
1680137
GRCh38
Duplication
No
guo_12_ASD_discovery_cases-case2
6 yrs.
M
Autism
Total Autism Behaviour Checklist score of 116. Birth/neonatal history: born full-term following C-section. Developmental milestones: speech delay and repetitive behaviors noted by parents at 21 months of age; raising head at 11 months, turning over at 13 months, sitting alone at 18 months, creeping at 20 months, standing alone at 24 months, walking alone at 27 months, jogging at 38 months, jumping at 48 months; laughing at 24 months, starting to learn language at 26 months, speaking first single word at 36 months, speaking first phrase at 40 months, speaking first sentence at 48 months; eye contact with relatives at 24 months, following moving objects with eyes at 28 months, waving hand goodbye at 38 months, plaing simple games with adults at 40 months, control of faeces and urine at 48 months. Behavioral/psychiatric evaluation: resistance to changes in environment and display of strong emotions in response to changing circumstances; lack of sense of danger; insensitivity to pain; self-injurious behavior (self-biting); lack of attention to surrounding objects or people; inability to socialize with peers; lack of compliance to relative's requests; inability to execute simple instructions or play party games. Family history: only child of healthy, unrelated parents with no family history of autism.
2593360
4995950
2402591
GRCh38
Duplication
Yes
guo_17_ASD_discovery_cases-caseM10120
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
2593360
4995950
2402591
GRCh38
Duplication
Yes
handrigan_13_ASD/DD/ID_discovery_cases-patient33
4 yrs.
F
Intellectual disability
Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
2605938
3535312
929375
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case357
4 yrs.
F
ASD
Diagnosis of ASD
2571407
2819656
248250
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3195997
3503302
307306
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002091
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
4708786
4644944
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002243
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2577647
3615783
1038137
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004150
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2045327
3500081
1454755
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU066004
N/A
M
ASD
2170316
2854316
684001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1070302
N/A
M
ASD
1988316
2918316
930001
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-caseHI4457
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1070302; NDAR ID NDAR_INVRN376JE5)
2571502
2903007
331506
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT45
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
2121576
2834807
713232
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case94
2 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
2267324
2773679
506356
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case93
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2731887
2838526
106640
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0469-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
2372316
2940316
568001
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0902-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety, obesity
857318
2901316
2043999
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0902-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
853578
2902968
2049391
GRCh38
Duplication
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
sanders_11_ASD_discovery_controls-11691.s1
16.3
M
Control (matched sibling)
NA
NA
3415368
3488339
72972
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family17_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
2611574
2761620
150047
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family17_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
2611574
2761620
150047
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case27C
Unknown
CNTN6,CNTN4,RPL23AP38,RPSAP32,RPL21P17,RPS8P6,RPL23AP39,CNTN4-AS2,CHL1-AS1,LINC01266,CHL1-AS2,HINT2P1,LINC01986,RN7SKP144,CRB3P1,RN7SL120P,RNU6-1194P,CHL1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case5
Unknown
CRBN,TRNT1,CNTN4,IL5RA,CNTN4-AS1,HINT2P1,DNAJC19P4
akter_24_ASD/ADHD/DD/ID_discovery_cases-case334
Unknown
CRBN,TRNT1,CNTN4,IL5RA,CNTN4-AS1,HINT2P1,DNAJC19P4
feliciano_19_ASD_discovery_cases-caseSP0012174
Maternal
CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
null
guo_12_ASD_discovery_cases-case2
FISH
Unknown
Simplex
Unknown
DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
guo_17_ASD_discovery_cases-caseM10120
qPCR
Unknown
DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
handrigan_13_ASD/DD/ID_discovery_cases-patient33
Unknown
Unknown
Unknown
DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4,TRNT1,CRBN
husson_20_ASD_discovery_cases-case357
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002091
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,TRNT1,CRBN,SUMF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002243
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DNAJC19P4,CNTN4-AS1,IL5RA,CNTN4,TRNT1,CRBN
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004150
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SKP144,HINT2P1,DNAJC19P4,CNTN4-AS2,CNTN4-AS1,IL5RA,CNTN4,TRNT1,CRBN
leppa_16_ASD_discovery_cases-AU066004
Paternal
Multiplex
Not segregated (CNV not reported in affected sibling)
HINT2P1,CNTN4
leppa_16_ASD_discovery_cases-AU1070302
Paternal
Multiplex
Not segregated (CNV not reported in affected sibling)
RN7SKP144,HINT2P1,CNTN4-AS2,CNTN4
poultney_13_ASD_discovery_cases-caseHI4457
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CNTN4
sandoval_talamantes_23_ASD_discovery_cases-caseAUT45
Maternal
CNTN4,CNTN4-AS2,HINT2P1
sansovic_17_DD/ID/ASD_discovery_cases-case94
Unknown
HINT2P1,CNTN4
yin_16_ASD_discovery_cases-case93
Unknown
Unknown
Unknown
CNTN4
yuen_17_ASD_discovery_cases-case1-0469-003
Affymetrix 6.0
Paternal
Multiplex
Not segregated
CNTN4
yuen_17_ASD_discovery_cases-case1-0902-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0902-003
RT-qPCR or WGS
Unknown
RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,CNTN4-AS2,CNTN6,CNTN4
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-11691.s1
Maternal
Simplex (quad)
NA
stamouli_18_ASD/NDD_discovery_controls-family17_Twin_1
Unknown
N/A (both twins typically developing)
CNTN4
stamouli_18_ASD/NDD_discovery_controls-family17_Twin_2
Unknown
N/A (both twins typically developing)
CNTN4
No Animal Model Data Available