12q23.1CNV Type: Deletion-Duplication
Largest CNV size: 132725 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
259130
3
0
3
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
Cases with heterozygous monogenic ANKS1B deletions: 4 cases from two families identified at Albert Einstein College of Medicine, 2 unrelated cases from Autism Speaks/MSSNG at the University of Toronto, 1 case identified through GeneMatcher, and 12 cases identified in DECIPHER.
19
Cases presented with a spectrum of neurodevelopmental disorders including ASD, ADHD, developmental delay (DD), and intellectual disability (ID)
Range, 2-35 years
57.89% Male
425000
19
0
19
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
37128
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
59981
3
0
3
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
40847
4
1
5
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
83503
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
195401
0
1
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
13283
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
2403
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
9176
3
0
3
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
140000
1
0
1
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
71716
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
95257
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
393093
0
3
3
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
98696
3
1
4
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
202812
1
0
1
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
132725
16
1
17
stamouli_18_ASD/NDD_discovery_cases
Affected 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
Diagnoses based on DSM-5 criteria 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 an
N/A
N/A
168948
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
55976
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_16_ASD_discovery_controls
Healthy siblings of ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios
26
Control
N/A
N/A
977
1
0
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
978
1
0
1
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
139693
1
0
1
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
348228
5
0
5
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
147234
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
167786
0
1
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
195586
2
1
3
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
587000
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
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.
18536
0
2
2
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
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)
98696
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.
132725
9
1
10
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
55976
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
10 Caucasian, 1 South Asian, 1 Pakistani, 1 Maghreb, 6 not reported
CMA, WES, WGS
Illumina (WES)
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_16_ASD_discovery_controls
N/A
WGS
Illumina HiSeq
Lumpy, ForestSV
SVtyper, gtCNV
PCR
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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
brandler_18_ASD_replication_cases-case2-1751-003
N/A
M
ASD
Case from MSSNG cohort
99704166
99836915
132750
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3635301
N/A
M
ASD
Case from MSSNG cohort
99787200
100046329
259130
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC05552
N/A
M
ASD
Case from SSC_phase2 cohort
99657504
99797196
139693
GRCh38
Deletion
No
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-1
7 yrs.
M
ADHD
Case identified in DECIPHER (DECIPHER ID 252112). Developmental milestones: normal. Motor and musculoskeletal evaluation: brachydactyly, short phalanx of finger, short toe. Behavioral/psychiatric evaluation: ADHD. Dysmorphic features: hypertelorism, preauricular pit, short nose, thick nasal alae. Growth parameters: head circumference 50th %ile.
99333808
99758357
424550
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
2 yrs.
F
ASD, developmental delay, and intellectual disability
Case identified in DECIPHER (DECIPHER ID 304771). Developmental milestones: developmental delay, speech delay, motor delay. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ASD. EEG: focal epileptic anomalies. Brain imaging: T2 hyperintensity in the posterior corona radiata white matter. Growth parameters: head circumference not reported.
99648384
99762495
114112
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-11
2 yrs.
F
ADHD, developmental delay, and intellectual disability
Case identified in DECIPHER (DECIPHER ID 307712). Developmental milestones: developmental delay, speech delay, motor delay. Language and communication evaluation: speech apraxia. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: generalized myoclonic seizures (familial). EEG: slow basal, frequent large spikes during sleep. Brain imaging: T2 hyperintensity in the right hippocampus. Growth parameters: head circumference 75th %ile.
Intellectual disability, cognitive impairment
99836452
100133784
297333
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-12
5 yrs.
M
Developmental delay
Case identified in DECIPHER (DECIPHER ID 372202). Individual presented with global developmental delay.
99246360
99649403
403044
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-2
8 yrs.
F
ASD, ADHD, and developmental delay
Case identified in DECIPHER (DECIPHER ID 259749). Developmental milestones: developmental delay, speech delay. Behavioral/psychiatric evaluation: ASD, ADHD; low frustration tolerance, reactive anger outbursts. Brain imaging: enlarged ventricles, thin corpus callosum. Dysmorphic features: synophrys, downslanting palpebral fissures, anteverted nares, short philtrum. Growth parameters: microcephaly (head circumference 2nd %ile).
Required specialized schooling
99601200
99712193
110994
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-3
5 yrs.
M
N/A
Case identified in DECIPHER (DECIPHER ID 263857). No phenotypic information was reported for this individual, although it was reported that the parental phenotype was normal.
99648149
99734077
85929
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-4
2 yrs.
F
N/A
Case identified in DECIPHER (DECIPHER ID 270083). No phenotypic information was reported for this individual, although it was reported that the parental phenotype was similar to that of the individual.
99648149
99734077
85929
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-5
9 yrs.
M
Abnormality of higher mental function
Case identified in DECIPHER (DECIPHER ID 275265). Individual presented with abnormality of higher mental function and obesity.
99180667
99524174
343508
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-6
2 yrs.
M
ASD, developmental delay, and intellectual disability
Case identified in DECIPHER (DECIPHER ID 278996). Developmental milestones: developmental delay, speech delay, motor delay. Behavioral/psychiatric evaluation: ASD; auditory, olfactory, and oral sensitivity, aggressive behavior, sleep disturbance (waking at night), shouting, pica. Brain imaging: shallow arachnoid cyst in the middle of the cranial fossa anteriorly on the left. Additional medical history: cyclical vomiting. Growth parameters: head circumference 95th %ile.
Mild intellectual disability
99864372
99991053
126682
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-7
35 yrs.
M
Intellectual disability
Case identified in DECIPHER (DECIPHER ID 280584). Developmental milestones: motor delay. Language and communication evaluation: poor language skills. Motor and musculoskeletal evaluation: mild right hemiparesis. Epilepsy/seizures: focal infantile seizures. EEG: flattening of left parietal, no epileptogenic activity. Brain imaging: enlargement of the lateral and third ventricles. Additional medical history: Tetralogy of Fallot (repaired), ankylosing spondylitis. Growth parameters: head circumference 9th %ile. Family history: mild parental phenotype.
Borderline intellectual disability
99662603
99922492
259890
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-8
7 yrs.
M
Speech delay
Case identified in DECIPHER (DECIPHER ID 287195). Individual presented with delayed speech and language development.
99307287
99590765
283479
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-9
12 yrs.
F
Cognitive impairment
Case identified in DECIPHER (DECIPHER ID 304005).
Cognitive impairment
99734019
99836511
102493
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-1
11 yrs.
M
ASD, ADHD, and developmental delay
Case identified at the Albert Einstein College of Medicine. Developmental milestones: developmental delay, speech delay, motor delay. Behavioral/psychiatric evaluation: ASD, ADHD; aggressive behavior, dysgraphia, self-soothing behaviors, vocal/motor Tourette's, hypersensitive sensory processing deficit. Visual evaluation: astigmatism. Dysmorphic features: brachycephaly, round facies, prominent brow, midface hypoplasia, high palate. Growth parameters: head circumference 92nd %ile. Family history: two similarly affected siblings; their father was reported to have childhood motor delays, displayed several motor deficits (oculomotor, fine motor, visual motor, gross motor), and was issued a diagnosis of autism at the conclusion of the study.
99215519
99592342
376824
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-2
6 yrs.
F
ADHD and developmental delay
Case identified at the Albert Einstein College of Medicine. Developmental milestones: developmental delay, speech delay, motor delay. Language and communication evaluation: speech apraxia. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ADHD. Brain imaging: hyperintensities in the caudate nucleus, thin corpus callosum. Visual evaluation: astigmatism. Additional medical history; encopresis, asthma. Dysmorphic features: brachycephaly, round facies, midface hypoplasia, high palate. Growth parameters: head circumference 90th %ile. Family history: two similarly affected siblings; their father was reported to have childhood motor delays, displayed several motor deficits (oculomotor, fine motor, visual motor, gross motor), and was issued a diagnosis of autism at the conclusion of the study.
Learning difficulties
99215519
99592342
376824
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-3
3 yrs.
M
Developmental delay
Case identified at the Albert Einstein College of Medicine. Developmental milestones: developmental delay, speech delay, motor delay. Motor and musculoskeletal evaluation: motor dyspraxia, congenital torticollis, myoclonic jerks, hypertonia. Behavioral/psychiatric evaluation: head banging, sleep disturbance. Dysmorphic features: brachycephaly, midface hypoplasia, positional plagiocephaly, high arched palate. Growth parameters: head circumference 60th %ile. Family history: two similarly affected siblings; their father was reported to have childhood motor delays, displayed several motor deficits (oculomotor, fine motor, visual motor, gross motor), and was issued a diagnosis of autism at the conclusion of the study.
99215519
99592342
376824
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-2-1
5 yrs.
F
Developmental delay
Case identified at the Albert Einstein College of Medicine. Developmental milestones: developmental delay, speech delay, motor delay. Language and communication evaluation: speech apraxia. Additional medical history: choanal atresia, pulmonary artery stenosis, atrial shunting. Dysmorphic features: round facies, prominent metopic suture, small and slightly cupped right ear. Growth parameters: microcephaly (head circumference <3rd %ile). Family history: father had a previous diagnosis of ADHD and displayed impairments in oculomotor control, visual-motor integration, and gross motor coordination.
99536568
99890287
353720
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseGEN-1
3 yrs.
F
ASD, developmental delay, and intellectual disability
Case identified through GeneMatcher online resource. Developmental milestones: developmental delay, speech delay, motor delay. Language and communication evaluation: speech apraxia. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ASD; poor play, poor eye contact, poor name response, no imitation or pattern matching. Brain imaging: dysgenesis of the corpus callosum, absent splenium. Dysmorphic features: round facies, occipital flattening, upslanting palpebral fissures, enlarged tongue. Growth parameters: head circumference not reported.
Intellectual disability
99552081
99909892
357812
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseTOR-1
7 yrs.
M
ASD and intellectual disability
Case identified in the Autism Speaks/MSSNG project at the University of Toronto. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: ASD. Dysmorphic features: none reported. Growth parameters: head circumference 91st %ile.
Intellectual disability
99705888
99836265
130378
GRCh38
Deletion
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseTOR-2
2 yrs.
M
ASD and intellectual disability
Case identified in the Autism Speaks/MSSNG project at the University of Toronto. Developmental milestones: speech delay, motor delay. Behavioral/psychiatric evaluation: ASD. Brain imaging: hyperintensity in the left periventricular white matter, thin corpus callosum. Dysmorphic features: none reported. Growth parameters: head circumference 95th %ile.
Intellectual disability
99718545
99799194
80650
GRCh38
Deletion
cucinotta_23_ASD_discovery_cases-case242
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
99590705
99627832
37128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14120_2130
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99686210
99746191
59982
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5399_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97623103
97668698
45596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8415_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97623103
97681105
58003
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0916301
Autism
98505657
98546503
40847
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU0916302
Autism
98505657
98546503
40847
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1791301
Autism
98512325
98546503
34179
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1791302
Autism
98512325
98546503
34179
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1791303
Autism
98512325
98546503
34179
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case677-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
99602936
99686439
83504
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001998
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
100078579
100273980
195402
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3017
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
99971632
99984914
13283
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case13215.p1
N/A
M
ASD
ASD proband from SSC quad family 13215. SRS score of 90.
Full-scale IQ (FSIQ) score of 74.
96311051
96313454
2404
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11216.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
95894988
95898733
3746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12646.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99772921
99782097
9177
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13297.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
95917128
95918976
1849
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown19
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)
99590706
99734077
143372
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0711-003
NA
M
ASD
NA
NA
97680240
97743440
63201
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0093-000
NA
M
ASD
NA
NA
97600538
97672254
71717
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5272_3
NA
M
ASD
Delayed early language development but average language abilites, no epilepsy, no dysmorphic features
Average non-verbal IQ (45%ile)
98445422
98540768
95257
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2580A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0924301; NDAR ID NDAR_INVCE056PE7)
100942375
101195164
252790
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
96286662
96679754
393093
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
98659158
98699571
40414
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case100579L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
96597867
96660275
62409
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59171L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
98500558
98547443
46886
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68257
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
97315194
97333461
18268
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
98444983
98543678
98696
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
99527513
99730324
202812
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11053.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 77
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
98871928
98879854
7927
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
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11440.p1
8.2
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 90; verbal IQ, 122
99590976
99614995
24020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11502.p1
16.1
F
Autism
NA
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
96826100
96836318
10219
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12139.p1
4.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 106; verbal IQ, 86
99601928
99615204
13277
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12321.p1
11.2
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
98868899
98879854
10956
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12646.p1
17.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 126; verbal IQ, 103
99662751
99795476
132726
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
97744095
97755694
11600
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
97361343
97370466
9124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
99587698
99629556
41859
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family54_Twin_2
N/A
N/A
Psychiatric disease
Case is from a dizygotic twin pair from the Discordant psychiatric diagnostic group
99914109
100083056
168948
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case439
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
100308718
100364693
55976
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
brandler_16_ASD_discovery_controls_controlREACH000236
N/A
M
Control
Control; healthy sibling of ASD proband
97902580
97903557
978
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlREACH000236
N/A
M
Control
Control from REACH cohort
97902579
97903557
979
GRCh38
Deletion
Yes
brandler_18_ASD_replication_controls-controlSSC05562
N/A
M
control
Control from SSC_phase2 cohort
99657504
99797196
139693
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036009330_
N/A
N/A
Control
No previous psychiatric history
99848237
99899292
51056
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
N/A
N/A
Control
No previous psychiatric history
97623103
97668698
45596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB163688_1007875305
N/A
N/A
Control
No previous psychiatric history
97623103
97668698
45596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB764282_1007872174
N/A
N/A
Control
No previous psychiatric history
97623103
97668698
45596
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
N/A
N/A
Control
No previous psychiatric history
99502554
99850782
348229
GRCh38
Deletion
No
itsara_10_ASD_discovery_controls_2-10942
NA
NA
Asthma
NA
NA
99515517
99662751
147235
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_controls-control_split1402
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
100286392
100454177
167786
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11216.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
95894988
95898733
3746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12646.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99772921
99782097
9177
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13302.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
100315557
100511143
195587
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_controls-AU072803
N/A
N/A
Control
Unaffected sibling
98885153
99472117
586965
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C26419
Control
96924270
96936985
12716
Unknown
Duplication
nord_11_ASD_discovery_controls-04C27075
Control
96919281
96937816
18536
Unknown
Duplication
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
99601928
99614995
13068
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11216.s1
6.4
M
Control (matched sibling)
NA
NA
95895082
95898506
3425
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
98871928
98879854
7927
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
99587698
99643304
55607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
98582226
98589436
7211
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
99601928
99615204
13277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
99601928
99615204
13277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
99601928
99615204
13277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12646.s1
16.5
M
Control (matched sibling)
NA
NA
99662751
99795476
132726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12969.s1
5.8
M
Control (matched sibling)
NA
NA
97361343
97370466
9124
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1751-003
No validation step reported
Paternal
ANKS1B
brandler_18_ASD_replication_cases-caseAU3635301
No validation step reported
Paternal
RPS4XP1,UHRF1BP1L,ANKS1B
brandler_18_ASD_replication_cases-caseSSC05552
No validation step reported
Maternal
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-1
Maternal
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
Paternal
Simplex
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-11
De novo
Simplex
Likely segregated
RPS4XP1,UHRF1BP1L,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-12
Unknown
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-2
Paternal
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-3
Inherited
Simplex
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-4
Inherited
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-5
Inherited
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-6
De novo
Simplex
Likely segregated
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-7
Unknown
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-8
Unknown
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-9
Unknown
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-1
Paternal
Paternal
Multi-generational
Segregated
ANKS1B
Reduced ANKS1B transcript and protein levels in patient LCLs
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-2
Paternal
Paternal
Multi-generational
Segregated
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-1-3
Paternal
Paternal
Multi-generational
Segregated
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseEIN-2-1
Paternal
Paternal
Multi-generational
Segregated
FAM71C,ANKS1B
Reduced ANKS1B transcript and protein levels in patient LCLs
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseGEN-1
Unknown
FAM71C,ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseTOR-1
Paternal
ANKS1B
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseTOR-2
Maternal
ANKS1B
cucinotta_23_ASD_discovery_cases-case242
Maternal
ANKS1B
engchuan_15_ASD_discovery_cases-case14120_2130
Unknown
ANKS1B
engchuan_15_ASD_discovery_cases-case5399_3
Unknown
engchuan_15_ASD_discovery_cases-case8415_201
Unknown
gai_11_ASD_discovery_cases-AU0916301
Inherited
ANKS1B (intronic)
gai_11_ASD_discovery_cases-AU0916302
Inherited
ANKS1B (intronic)
gai_11_ASD_discovery_cases-AU1791301
Inherited
ANKS1B (intronic)
gai_11_ASD_discovery_cases-AU1791302
Inherited
ANKS1B (intronic)
gai_11_ASD_discovery_cases-AU1791303
Inherited
ANKS1B (intronic)
gazzellone_14_ASD_discovery_cases-case677-3
Unknown
Unknown
Unknown
FAM71C,ANKS1B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001998
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL176P,MIR1827,GOLGA2P5,ACTR6,DEPDC4,UHRF1BP1L,SCYL2
kanduri_15_ASD_discovery_cases-case3017
Maternal
Unknown
Unknown
ANKS1B (intronic)
krumm_13_ASD_discovery_cases-case13215.p1
Maternal
Simplex
Segregated
CDK17
krumm_15_ASD_discovery_cases-case11216.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SNRPF,CCDC38
krumm_15_ASD_discovery_cases-case12646.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ANKS1B
krumm_15_ASD_discovery_cases-case13297.p1
1M-Duov3
Paternal
Simplex
Segregated
CCDC38
maini_18_ASD/DD/ID_discovery_cases-case_unknown19
Maternal
Unknown
Unknown
FAM71C,ANKS1B
marshall_08_ASD_discovery_cases-MM0711-003
qPCR, qmPCR
Unknown
NA
NA
RNU6-36P
marshall_08_ASD_discovery_cases-NA0093-000
qPCR, qmPCR
Unknown
NA
NA
pinto_10_ASD_discovery_cases-case5272_3
qPCR, Agilent 1M, Illumina 1M-duo for sib
De novo
Multiplex
Not segregated
ANKS1B intronic
poultney_13_ASD_discovery_cases-case03HI2580A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ANO4,SLC5A8
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU4-24P,RN7SKP11,CDK17,CFAP54
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
APAF1
prasad_12_ASD_discovery_cases-case100579L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case59171L
Unknown
Unknown
Unknown
ANKS1B
prasad_12_ASD_discovery_cases-case68257
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
ANKS1B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
Not tested by qPCR
Unknown
Unknown
Unknown
FAM71C,ANKS1B
sanders_11_ASD_discovery_cases-11053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11368.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
ANKS1B
sanders_11_ASD_discovery_cases-11440.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11502.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11530.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11775.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-11963.p1
Maternal
Simplex (quad-proband matched)
Segregated
CFAP54
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-12139.p1
Paternal
Simplex (trio)
NA
ANKS1B
sanders_11_ASD_discovery_cases-12321.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-12646.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
sanders_11_ASD_discovery_cases-12664.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12969.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANKS1B
stamouli_18_ASD/NDD_discovery_cases-family54_Twin_2
Unknown
Multiplex
Not segregated (CNV not present in unaffected twin)
RPS4XP1,UHRF1BP1L,ANKS1B
yin_16_ASD_discovery_cases-case439
Unknown
Unknown
Unknown
SCYL2,SLC17A8
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_16_ASD_discovery_controls_controlREACH000236
PCR
De novo
brandler_18_ASD_discovery_controls-controlREACH000236
PCR
De novo
brandler_18_ASD_replication_controls-controlSSC05562
No validation step reported
Maternal
ANKS1B
engchuan_15_ASD_discovery_controls-control110036009330_
Unknown
ANKS1B
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
Unknown
engchuan_15_ASD_discovery_controls-controlB163688_1007875305
Unknown
engchuan_15_ASD_discovery_controls-controlB764282_1007872174
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901092_901092
Unknown
FAM71C,ANKS1B
itsara_10_ASD_discovery_controls_2-10942
aCGH (custom NimbleGen 12 X 135)
De novo
FAM71C,ANKS1B
kanduri_15_ASD_discovery_controls-control_split1402
Unknown
ANKS1B,UHRF1BP1L
krumm_15_ASD_discovery_controls-control11216.s1
Illumina 1M
Paternal
SNRPF,CCDC38
krumm_15_ASD_discovery_controls-control12646.s1
Illumina 1MDuo
Maternal
ANKS1B
krumm_15_ASD_discovery_controls-control13302.s1
1M-Duov3
Paternal
SCYL2,SLC17A8,NR1H4
leppa_16_ASD_discovery_controls-AU072803
De novo
Unknown
RNA5SP366,ANKS1B
nord_11_ASD_discovery_controls-04C26419
0 genes
nord_11_ASD_discovery_controls-04C27075
0 genes
sanders_11_ASD_discovery_controls-11053.s1
Paternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-11216.s1
Paternal
Simplex (quad)
NA
SNRPF,CCDC38
sanders_11_ASD_discovery_controls-11368.s1
Maternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-11696.s1
Paternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-11798.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Maternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-12363.s1
Maternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-12555.s1
Paternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-12646.s1
Maternal
Simplex (quad)
NA
ANKS1B
sanders_11_ASD_discovery_controls-12969.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available