2q24.2CNV Type: Deletion-Duplication
Largest CNV size: 99252 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
Strong association of de novo copy number mutations with autism.
Deletion
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
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.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
14154
1
0
1
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
7416
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
519428
1
0
1
fasham_24_DD/ID_discovery_cases
Similarly affected brothers carrying a homozygous 2q24.2 deletion affecting the SLC4A10 gene who were born to consanguineous (first-cousin) Palestinian parents.
2
Both brothers presented with developmental delay (characterized by delayed ability to walk and absent speech) and severe intellectual disability; the older brother also presented with seizures, while the younger brother also presented with stereotypy.
Range, 7 yrs. 8 mos.-8 yrs. 10 mos.
Male
49884
4
0
4.1
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
19881
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
19881
1
1
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
65153
0
1
1
palumbo_14_ID_discovery_cases
Eldest of three children of healthy and non-consanguineous parents, with no family history of intellectual disability, congenital anomalies, or neurological disorders, referred to genetics clinic for investigation regarding short stature and psychomotor disability
1
Moderate-to-severe intellectual disability (ID), behavioral problems with impulsivity and aggressiveness, language delay, and growth retardation/short stature
12 yrs.
Male
122000
1
0
1
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
318000
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)
14367
1
0
1
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
139749
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
285644
0
1
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
64675
11
2
13
sebat_07_ASD_discovery_cases
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
195
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
99252
1
0
1
sewani_23_ASD/DD/ID_discovery_cases
Three cases with 2q24.2 microdeletions affecting the BAZ2B gene (from an initial cohort of 10 unrelated individuals with BAZ2B variants identified through personal communications or the DECIPHER database)
3
All three cases presented with developmental delay (DD) in addition to autism spectrum disorder (ASD) and/or intellectual disability (ID).
Range, 5 yrs.-8 yrs. 3 mos.
66.67% Male
1229396
3
0
3
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
2200000
1
0
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
128896
0
2
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
828833
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
6430
0
1
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
7416
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
163775
0
1
1
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
192694
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
19881
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
19881
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
68935
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
71673
9
3
12
sebat_07_ASD_discovery_controls
Controls from families with no diagnoses of autism (AGRE, NIMH, University of Tampere, Vanderbilt University, University of Chicago, Columbia University, the Centre dEtude du Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University)Polymorphisme Humain Utah Panel (CEPH), McLean Hospital/Harvard University
196
Controls
99252
0
0
0
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
128896
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
fasham_24_DD/ID_discovery_cases
Palestinian
WGS
NA
NA.1
SavvyCNV
ddPCR
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)
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
palumbo_14_ID_discovery_cases
Italy
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
Array SNP (Affymetrix CytoScan HD)
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sebat_07_ASD_discovery_cases
ROMA
HMM
S-PLUS
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
sewani_23_ASD/DD/ID_discovery_cases
CMA, aCGH
qPCR
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
sebat_07_ASD_discovery_controls
ROMA
HMM
S-PLUS
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_discovery_cases-caseMT_18.3
N/A
M
ASD
Case from REACH cohort
161415101
161429255
14155
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC07799
N/A
M
ASD
Case from SSC_phase2 cohort
159730623
159738038
7416
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296507
N/A
M
Developmental delay/intellectual disability
161985109
162504536
519428
GRCh38
Deletion
Yes
fasham_24_DD/ID_discovery_cases-caseFam1-III:1
8 yrs. 10 mos.
M
Developmental delay, intellectual disability, and seizures
Microcephaly (OFC -2.3 SD), delayed ability to walk (after 2 years), absent speech, anxiety, hyperactivity, seizures, reduced central tone, increased peripheral tone, exaggerated or brisk tendon reflexes, slit lateral ventricles, dysmorphic corpus callosum, distorted configuration of fornix/septum pellucidum. Family history: born to consanguineous Palestinian parents, similarly affected brother.
Severe intellectual disability
161846109
161895992
49884
GRCh38
Homozygous deletion
Yes
fasham_24_DD/ID_discovery_cases-caseFam1-III:2
7 yrs. 8 mos.
M
Developmental delay, intellectual disability, and stereotypy
Microcephaly (OFC -3.4 SD), delayed ability to walk (5 years), absent speech, anxiety, stereotypies, hyperactivity, possible seizures, reduced central tone, increased peripheral tone, exaggerated or brisk tendon reflexes, slit lateral ventricles, dysmorphic corpus callosum, distorted configuration of fornix/septum pellucidum, inverted nipples. Family history: born to consanguineous Palestinian parents, similarly affected brother.
Severe intellectual disability
161846109
161895992
49884
GRCh38
Homozygous deletion
Yes
krumm_13_ASD_discovery_cases-case11711.p1
N/A
M
ASD
ASD proband from SSC quad family 11711. SRS score of 88.
Full-scale IQ (FSIQ) score of 94.
159729022
159748903
19882
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11544.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
159248371
159256377
8007
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11711.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
159729022
159748903
19882
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case11711.p1
NA
M
ASD/Autism
Case also identified with de novo KIAA0182 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 97
159683750
159748903
65154
GRCh38
Duplication
Yes
palumbo_14_ID_discovery_cases-case1
12 yrs.
M
Intellectual disability
Patient referred to genetics clinic for investigation regarding short stature and psychomotor disability. Birth/neonatal history: born at 41 weeks gestation after C-section performed due to fetal distress; birth weight of 2870 g (<3rd %ile), height of 49 cm (10th %ile) (head circumference N/A). Developmental milestones: motor development within normal range; language delay. Language and communication evaluation: language delay. Motor and musculoskeletal evaluation: normal motor development; scapular winging, pectus excavatum, hands with long and narrow palms, long fingers. Behavioral/psychiatric evaluation: behavioral problems with impulsivity and aggressiveness. EEG: no paroxysmal anomalies while awake, but rare sharp waves and spike on central and vertex region during sleep. Brain imaging: no structural brain anomalies observed on brain MRI. Vision and hearing evaluation: moderate astigmatism; normal audiometric examination. Dysmorphic features: mild facial dysmorphism such as right palpebral ptosis. Growth parameters: weight of 26.6 kg (<3rd %ile), height of 137 cm (<25th %ile), and head circumference of 50.5 cm (-2 SD). Family history: Eldest of three children of healthy and non-consanguineous parents; no family history of intellectual disability, congenital anomalies, or neurological disorders.
Moderate-to-severe ID (WISC IQ score of 35)
161413377
161535156
121780
GRCh38
Deletion
Yes
pham_14_ASD/DD/EP/ID_discovery_cases-case35
19 yrs.
M
Developmental delay
Indication for study: developmental delay. Level of mosaicism: 50% by CMA; 61% by FISH.
161111122
161428835
317714
GRCh38
Mosaic deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3375A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1334303; NDAR ID N/A)
159136192
159150558
14367
GRCh38
Deletion
No
qiao_12_ASD_discovery_cases-case10-69A
NA
NA
ASD and/or ID
NA
NA
163147484
163287233
139749
Unknown
Duplication
Yes
quintela_17_DD/ID_discovery_cases-caseID_88
9 yrs.
M
Intellectual disability and epilepsy
Epilepsy
Intellectual disability
159106964
159392608
285645
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11043.p1
8.4
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 106
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
160553048
160600336
47289
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
159811597
159817015
5419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
161723874
161744682
20809
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11584.p1
11.5
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 75; verbal IQ, 73
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
159683750
159748425
64676
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12187.p1
7.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 110; verbal IQ, 105
161812774
161847508
34735
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
161883839
161892546
8708
GRCh38
Deletion
No
sebat_07_ASD_discovery_cases-63-144-2575
NA
F
Autism
NA
NA
162212720
162311972
99252
Unknown
Deletion
Yes
sewani_23_ASD/DD/ID_discovery_cases-caseS1
5 yrs.
F
ASD and developmental delay
Small for gestational age, developmental delay, autism spectrum disorder, delayed ability to walk (24 months), speech delay (first words at 3 years), hyperactivity, relative microcephaly.
158987556
160216951
1229396
GRCh38
Deletion
No
sewani_23_ASD/DD/ID_discovery_cases-caseS2
6 yrs.
M
ASD, developmental delay, and intellectual disability
Pregnancy complicated by later prenatal care and maternal use of alcohol, marijuana, and methamphetamine, atrioventricular canal defect, developmental delay, autism spectrum disorder, speech delay (language limited to 500 words and 3-word phrases), behavioral abnormalities (boundary issues, affinity for rigid routines, apparent lack of empathy, picky eating behavior, poor sleep), pseudostrabismus verses intermittent accommodative esotropia of the left eye, mild myopia of the right eye, mild hyperopia of the left eye, moderate bilateral astigmatism, mildly high bitemporal hairline, hypoplastic nipples, mild fifth finger clinodactyly; patient was adopted.
Mild intellectual disability
159373133
159500591
127459
GRCh38
Deletion
No
sewani_23_ASD/DD/ID_discovery_cases-caseS3
8 yrs. 3 mos.
M
Developmental delay, intellectual disability, and seizures
Case from DECIPHER (ID 391176). Premature birth (35 weeks gestation), developmental delay, expressive language delay, bilateral tonic-clonic seizures, poor feeding, unilateral strabismus, hypermetropia, xerosis, decreased body weight (-2.5 SD), microcephaly (<1st %ile, -3 SD), decreased body mass index (1st %ile, -2.5 SD), and arachnodactyly. Family history: BAZ2B deletion was inherited from his father, who had a mild learning disability but was otherwise asymptomatic with normal head circumference; family history was otherwise significant for a maternal uncle with intellectual disability who was unavailable for genetic testing.
Moderate intellectual disability
159438371
159655041
216671
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case69
M
DD/ID
Trigonocephaly, micrognathia, arched palate, flat nasal bridge, eyelid ptosis, hypertelorism, hypotonia, single palmar crease,joint laxity
160216892
162384918
2168027
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case86
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
159191746
159224825
33080
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case87
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
159422813
159551708
128896
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01547s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
161408588
161424479
15892
GRCh38
Deletion
No
yuan_23_ASD_discovery_cases-qma01547s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
161708500
162537332
828833
GRCh38
Deletion
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_18_ASD_discovery_controls-controlREACH000371
N/A
F
Control
Control from REACH cohort
161160244
161166674
6431
GRCh38
Duplication
Yes
brandler_18_ASD_replication_controls-controlSSC07811
N/A
M
control
Control from SSC_phase2 cohort
159730623
159738038
7416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
N/A
N/A
Control
No previous psychiatric history
159232282
159396057
163776
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1801
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
160321788
160514481
192694
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11711.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11711. SRS score of 48.
159729022
159748903
19882
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11711.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
159729022
159748903
19882
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11303.s1
NA
M
Control
NA
NA
159292312
159349834
57523
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11711.s1
NA
M
Control
NA
NA
159678938
159747872
68935
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11092.s1
10.5
F
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11146.s1
9.7
M
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11303.s1
4.5
M
Control (matched sibling)
NA
NA
159295276
159347915
52640
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11356.s1
9.3
M
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11479.s1
4.2
F
Control (matched sibling)
NA
NA
161730373
161744682
14310
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
159103075
159104939
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
159677084
159748757
71674
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
161812774
161847508
34735
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseMT_18.3
SNP VCF
De novo
TBR1,SLC4A10
brandler_18_ASD_replication_cases-caseSSC07799
No validation step reported
Paternal
MARCH7
digregorio_17_DD/ID_discovery_cases-DECIPHER_296507
qPCR
De novo
TIMM8AP1,EIF3EP2,GCG,RNA5SP109,FAP,GCA,DPP4,IFIH1,SLC4A10,KCNH7
fasham_24_DD/ID_discovery_cases-caseFam1-III:1
ddPCR
Unnamed: 16
Both parents
Multiplex
Segregated
SLC4A10
Unnamed: 21
fasham_24_DD/ID_discovery_cases-caseFam1-III:2
ddPCR
Both parents
Multiplex
Segregated
SLC4A10
krumm_13_ASD_discovery_cases-case11711.p1
Maternal
Simplex
Not segregated
MARCH7
krumm_15_ASD_discovery_cases-case11544.p1
Illumina 1M
Paternal
Simplex
Segregated
WDSUB1
krumm_15_ASD_discovery_cases-case11711.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MARCH7
o'roak_12_ASD_discovery_cases-case11711.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
MARCH7
palumbo_14_ID_discovery_cases-case1
Array SNP (Affymetrix CytoScan HD)
De novo
Simplex
Segregated
TBR1,AHCTF1P1,SLC4A10
pham_14_ASD/DD/EP/ID_discovery_cases-case35
FISH and/or chromosome analysis
Unknown
Unknown
Unknown
LINC01806,RNA5SP108,TBR1,TANK,PSMD14,SLC4A10
poultney_13_ASD_discovery_cases-case04HI3375A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TANC1
qiao_12_ASD_discovery_cases-case10-69A
QMPSF
De novo
Unknown
Unknown
KCNH7
quintela_17_DD/ID_discovery_cases-caseID_88
Unknown
Unknown
MIR6888,TANC1,WDSUB1,BAZ2B
sanders_11_ASD_discovery_cases-11043.p1
Both parents
Simplex (quad-proband matched)
Segregated
TANC1
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11146.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11227.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11233.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11242.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11352.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11466.p1
Paternal
Simplex (quad-proband matched)
Segregated
LY75,LY75-CD302
sanders_11_ASD_discovery_cases-11479.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC4A10
sanders_11_ASD_discovery_cases-11584.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TANC1
sanders_11_ASD_discovery_cases-11711.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MARCH7
sanders_11_ASD_discovery_cases-12187.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC4A10
sanders_11_ASD_discovery_cases-12480.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SLC4A10
sebat_07_ASD_discovery_cases-63-144-2575
390K ROMA or Agilent 244K aCGH
De novo
Simplex
NA
SLC4A10
sewani_23_ASD/DD/ID_discovery_cases-caseS1
De novo
BAZ2B,MARCHF7,TANC1,WDSUB1,ITGB6,BTF3L4P2,RPS3AP13,LY75,GSTM3P2,CAPZA1P2,LY75-CD302,MIR6888,RNU6-580P,CD302,PLA2R1
sewani_23_ASD/DD/ID_discovery_cases-caseS2
Unknown
BAZ2B,CAPZA1P2
sewani_23_ASD/DD/ID_discovery_cases-caseS3
qPCR
Paternal
Paternal
BAZ2B,CAPZA1P2
tzetis_12_DD/ID_discovery_cases-case69
Unknown
Unknown
MIR4785,RN7SL423P,LINC01806,RNA5SP108,TBR1,AHCTF1P1,KRT18P46,RPEP5,TIMM8AP1,EIF3EP2,GCG,LINC02478,FAP,GCA,TANK,PSMD14,DPP4,IFIH1,RBMS1,SLC4A10,KCNH7
yin_16_ASD_discovery_cases-case86
Unknown
Unknown
Unknown
TANC1
yin_16_ASD_discovery_cases-case87
Unknown
Unknown
Unknown
BAZ2B
yuan_23_ASD_discovery_cases-qma01547s000
De novo
SLC4A10,RNA5SP108,PSMD14,TBR1
yuan_23_ASD_discovery_cases-qma01547s000
De novo
DPP4,FAP,SLC4A10,IFIH1,KCNH7,GCG,TIMM8AP1,EIF3EP2,DPP4-DT,RNA5SP109,RPEP5,GCA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000371
SNP VCF
De novo
TANK
brandler_18_ASD_replication_controls-controlSSC07811
No validation step reported
Paternal
MARCH7
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
Unknown
TANC1,WDSUB1,BAZ2B
kanduri_15_ASD_discovery_controls-control_split1801
Unknown
BAZ2B
krumm_13_ASD_discovery_controls-control11711.s1
Maternal
Simplex
MARCH7
krumm_15_ASD_discovery_controls-control11711.s1
Illumina 1MDuo
Maternal
MARCH7
levy_11_ASD_discovery_controls-11303.s1
Paternal
Simplex
NA
BAZ2B
levy_11_ASD_discovery_controls-11711.s1
Maternal
Simplex
NA
MARCH7
sanders_11_ASD_discovery_controls-11092.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11107.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11146.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11172.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11303.s1
Paternal
Simplex (quad)
NA
BAZ2B
sanders_11_ASD_discovery_controls-11356.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11365.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11422.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11479.s1
Maternal
Simplex (quad)
NA
SLC4A10
sanders_11_ASD_discovery_controls-11676.s1
Unknown
Simplex (quad)
NA
TANC1
sanders_11_ASD_discovery_controls-11711.s1
Maternal
Simplex (quad)
NA
MARCH7
sanders_11_ASD_discovery_controls-12187.s1
Unknown
Simplex (quad)
NA
SLC4A10
No Animal Model Data Available