15q13.2CNV Type: Deletion-Duplication
Largest CNV size: 693884 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_15_ASD_discovery_cases
ASD cases screened for 15q13.3 CNVs from 133 families recruited at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry (Calambrone, Pisa, Italy)
135
ASD diagnosis based on ADI-R and ADOS
N/A
N/A
55000
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
35270
1
0
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
152124
1
0
1
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
693883
13
2
15
furukawa_25_ASD_discovery_cases
Patients of Japanese ancestry with ASD who were recruited from Nagoya University and its affiliated hospitals.
57
All patients met the DSM-5 criteria for ASD.
Mean, 19 +/- 10.6 yrs.
77.19% Male
212344
2
0
2
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
130921
1
0
1
gregory_09_ASD_discovery_cases
Probands from multiplex autism families
119
Idiopathic autism, minimum IQ equivalent of 35 or Vineland Adaptive Behavior Scale age equivalent of 18 months
78.15% Male
182240
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
229181
1
1
2
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
49767
1
0
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
23517
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
159633
1
0
1
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
104599
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
498800
2
0
2
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
693884
2
0
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
277810
3
2
5
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
71183
0
2
2
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
33376
0
1
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
536758
0
1
1
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
418512
15
2
17
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
374451
1
0
1
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
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
152159
4
0
4
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
49943
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_15_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina 1M-Duo
QuantiSNP, PennCNV
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP)
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
furukawa_25_ASD_discovery_cases
Japan
WGS
MGI DNBSEQT7
CNVkit, Manta, DELLY, AnnotSV v.3.3.4
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gregory_09_ASD_discovery_cases
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
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
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
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)
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
bacchelli_15_ASD_discovery_cases-case3474_3
13 yrs.
M
Autism
Diagnosis of autism based on meeting ADI-R and ADOS criteria. Birth and neonatal history: no exposure of history of alcohol, tobacco, or drug abuse during pregnancy; born at term by C-section; birth weight of 3550 g (50th %ile) and length of 50 cm (50th %ile); breast-fed with good suction. Developmental milestones: sat unaided at age of 8 months, started walking independently at 16 months; babbling noted at age of 9 months, pronounced first words at 12 months; regression of language skills at age 18 months associated with refusal of physical contact, selective feeding, and hyperactivity. Language and communication evaluation: able to pronounce only single words with reduced gesture repertoire; limited comprehension. Epilepsy/seizures: developed complex partial seizures with secondary generalization at age of 13 years. EEG: reported to be normal at age of 5 years 5 months. Brain imaging: brain MRI reported to be normal. Dysmorphic features: bilateral epicanthal folds, broad-hypoplastic nasal bride, prominent digit pads. Growth parameters: weight of 26 kg (97th %ile), height of 114 cm (50th-75th %ile), and OFC of 55.5 cm (>90th %ile) at age of 5 years 5 months. Family history: only child of healthy non-consanguineous parents; paternal grandfather's sister affected by intellectual disability; paternal grandfather's brother had speech delay.
Moderate cognitive impairment
N/A
N/A
55000
GRCh37
Deletion
No
celestino-soper_11_ASD_discovery_cases-11178
NA
M
ASD
NA
NA
30361443
30396713
35271
GRCh38
Deletion
Yes
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
30527262
30679386
152125
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1231_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30108393
30802276
693884
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14022_460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30606930
30816586
209657
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14143_2410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30635314
30675803
40490
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20164_1684001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30651309
30683173
31865
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20165_1702001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30621004
30683173
62170
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2303_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30644082
30683173
39092
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3474_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30621004
30675803
54800
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3607_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30578492
30814623
236132
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4177_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30606930
30705755
98826
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4238_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30606930
30705755
98826
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4301_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30606930
30730116
123187
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4534_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30626045
30693848
67804
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5248_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30635007
30675803
40797
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5277_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30561883
30802276
240394
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5320_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30626045
30720374
94330
GRCh38
Deletion
No
furukawa_25_ASD_discovery_cases-case14
11 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy
Developmental milestones: delayed language development (DSM-5 diagnosis of mild intellectual developmental disorder). Behavioral/pyschiatric evaluation: DSM-5 diagnoses of ASD and tic disorder, hyperactivity, a tendency to abruptly cut ties over minor disagreements or dissatisfaction, struggles with responding to open-ended questions, an aversion to physical promixity, and a strong fixation of specific cups. Epilepsy/seizures: DSM-5 diagnosis of epilepsy. Family history: notable for a maternal cousin with ASD.
DSM-5 diagnosis of mild intellectual developmental disorder
30587397
30799740
212344
GRCh38
Homozygous deletion
No
gai_11_ASD_discovery_cases-AU1390301
Autism
28723577
28854497
130921
Unknown
Deletion
No
gregory_09_ASD_discovery_cases-19981880
NA
ASD
NA
NA
30095831
30278071
182241
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001105
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30662523
30891704
229182
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002644
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30639641
30746551
106911
GRCh38
Deletion
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
30644082
30693848
49767
GRCh38
Deletion
No
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
30440634
30675803
235170
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
30297594
30457226
159633
GRCh38
Deletion
No
li_18_ASD_discovery_cases-case4601
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
30591968
30696567
104600
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case543
3 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: growth deficiency, stereotypic movements, frontal bossing, arched upper lip, macrostomia, open mouth, microcephaly
30097818
30596650
498833
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case673
4 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypospadias
30527262
30785630
258369
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1231_3
NA
M
Autism
Verbal, delayed suture closure, complex partial seizures
Normal IQ
30108393
30802276
693884
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5320_3
NA
M
ASD
NA
NA
30626045
30720374
94330
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1545-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
30198235
30377322
179088
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-274
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
30167332
30445141
277810
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
30644082
30810692
166611
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-019
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: N/A. Intellectual disability: N/A.
30635007
30810692
175686
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-279a2
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
30658326
30796240
137915
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
30440634
30511817
71184
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
30437332
30491379
54048
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT225
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
30646011
30679386
33376
GRCh38
Duplication
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
30081191
30617948
536758
GRCh38
Duplication
No
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-control110036017473_
N/A
N/A
Control
No previous psychiatric history
30635007
30683173
48167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023653_
N/A
N/A
Control
No previous psychiatric history
30569581
30675803
106223
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024040_
N/A
N/A
Control
No previous psychiatric history
30606930
30683173
76244
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB250058_1007852610
N/A
N/A
Control
No previous psychiatric history
30635007
30683173
48167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
N/A
N/A
Control
No previous psychiatric history
30635007
30675803
40797
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
N/A
N/A
Control
No previous psychiatric history
30490577
30797323
306747
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
N/A
N/A
Control
No previous psychiatric history
30635007
30693848
58842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB443041_1007873134
N/A
N/A
Control
No previous psychiatric history
30626045
30693848
67804
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB476720_1007853882
N/A
N/A
Control
No previous psychiatric history
30635314
30675803
40490
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB549396_1007854239
N/A
N/A
Control
No previous psychiatric history
30606930
30683173
76244
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
N/A
N/A
Control
No previous psychiatric history
30626045
30675803
49759
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900499_900499
N/A
N/A
Control
No previous psychiatric history
30592457
30657422
64966
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
N/A
N/A
Control
No previous psychiatric history
30239163
30520360
281198
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
N/A
N/A
Control
No previous psychiatric history
30635007
30675803
40797
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
N/A
N/A
Control
No previous psychiatric history
30173945
30592457
418513
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
N/A
N/A
Control
No previous psychiatric history
30621004
30675803
54800
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
N/A
N/A
Control
No previous psychiatric history
30621004
30675803
54800
GRCh38
Deletion
No
gregory_09_ASD_discovery_controls-control5
NA
Control
NA
NA
374451
NCBI36
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1055
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
30936285
31088443
152159
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1785
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
30936285
31088443
152159
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1797
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
30936285
30964572
28288
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split341
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
30936285
30964572
28288
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
30440634
30490577
49944
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
30089917
30118412
28496
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_15_ASD_discovery_cases-case3474_3
Paternal
Possible multi-generational
Unknown
ARHGAP11B
celestino-soper_11_ASD_discovery_cases-11178
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
CHRFAM7A
chilian_13_DD/ID_discovery_cases-case1
qPCR
Paternal
Possibly simplex (no info on 1st child)
Unknown
RN7SL796P,DNM1P50,RN7SL628P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case1231_3
Unknown
GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,GOLGA8R
engchuan_15_ASD_discovery_cases-case14022_460
Unknown
RN7SL628P,GOLGA8UP,RN7SL82P,GOLGA8H,ARHGAP11B,HERC2P10
engchuan_15_ASD_discovery_cases-case14143_2410
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_cases-case20164_1684001
Unknown
engchuan_15_ASD_discovery_cases-case20165_1702001
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_cases-case2303_1
Unknown
engchuan_15_ASD_discovery_cases-case3474_3
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_cases-case3607_3
Unknown
RN7SL628P,GOLGA8UP,RN7SL82P,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case4177_1
Unknown
RN7SL628P,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case4238_1
Unknown
RN7SL628P,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case4301_1
Unknown
RN7SL628P,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case4534_1
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_cases-case5248_3
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_cases-case5277_3
Unknown
DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_cases-case5320_3
Unknown
ARHGAP11B
furukawa_25_ASD_discovery_cases-case14
Both parents
ARHGAP11B,GOLGA8H,ULK4P2,GOLGA8UP,ARHGAP11B-DT,RN7SL628P
gai_11_ASD_discovery_cases-AU1390301
Inherited
ARHGAP11B
gregory_09_ASD_discovery_cases-19981880
Unknown
NA
NA
DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,ULK4P3,LINC02249
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001105
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GOLGA8UP,RN7SL82P,HERC2P10
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002644
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
leblond_12_ASD_discovery_cases-AUGB038_3
Maternal
Simplex
leblond_12_ASD_replication_cases-Pintocase5237_3
Maternal
RN7SL796P,DNM1P50,RN7SL628P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
RN7SL196P,CHRFAM7A,GOLGA8R
li_18_ASD_discovery_cases-case4601
Unknown
Simplex
Unknown
RN7SL628P,ULK4P2,GOLGA8H,ARHGAP11B
oikonomakis_16_ASD_discovery_cases-case543
Unknown
DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8R
oikonomakis_16_ASD_discovery_cases-case673
Unknown
RN7SL796P,DNM1P50,RN7SL628P,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B
pinto_10_ASD_discovery_cases-case1231_3
Illumina550-Paternal
paternal
NA
NA
GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,GOLGA8R
pinto_10_ASD_discovery_cases-case5320_3
Agilent1M
maternal
NA
NA
ARHGAP11B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1545-0
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-17P,LINC02249,CHRFAM7A
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-274
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-17P,RN7SL196P,LINC02249,CHRFAM7A,GOLGA8R
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
Not tested by qPCR
Unknown
Unknown
Unknown
GOLGA8UP,RN7SL82P
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-019
Not tested by qPCR
Unknown
Unknown
Unknown
GOLGA8UP,RN7SL82P,ARHGAP11B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-279a2
Not tested by qPCR
Unknown
Unknown
Unknown
GOLGA8UP
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Segregated
sandoval_talamantes_23_ASD_discovery_cases-caseAUT225
Unknown
ARHGAP11B
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,GOLGA8R
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017473_
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-control110036023653_
Unknown
DNM1P50,RN7SL628P,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_controls-control110036024040_
Unknown
RN7SL628P,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB250058_1007852610
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB301469_1007854697
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB365205_1007853975
Unknown
RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB419502_1007871739
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB443041_1007873134
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB476720_1007853882
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB549396_1007854239
Unknown
RN7SL628P,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlHABC_900499_900499
Unknown
RN7SL628P,ULK4P2,GOLGA8H,ARHGAP11B
engchuan_15_ASD_discovery_controls-controlHABC_900976_900976
Unknown
RNU6-17P,RN7SL196P,CHRFAM7A,GOLGA8R
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlHABC_902607_902607
Unknown
RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8R
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
Unknown
ARHGAP11B
engchuan_15_ASD_discovery_controls-controlHABC_902690_902690
Unknown
ARHGAP11B
gregory_09_ASD_discovery_controls-control5
Unknown
NA
NA
kanduri_15_ASD_discovery_controls-control_split1055
Unknown
LOC100288637 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1785
Unknown
LOC100288637 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split1797
Unknown
LOC100288637 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_controls-control_split341
Unknown
LOC100288637 (non-coding RNA, exonic)
sanders_11_ASD_discovery_controls-11098.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Unknown
Simplex (quad)
NA
GOLGA8J,RN7SL673P,DNM1P28,ULK4P3
No Animal Model Data Available