12p13.32CNV Type: Deletion-Duplication
Largest CNV size: 167192 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
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
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
davis_12_ASD_discovery_cases
Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago
1
Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.
12 yrs.
Male
11918
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
35142
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
612945
0
1
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
17110
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
4712
1
1
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
11416
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
151320
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
162524
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
35143
0
1
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)
136643
0
2
2
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
25146
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
167192
5
1
6
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
55121
2
0
2
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
369102
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
12685
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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
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)
4700
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
25146
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.
10985
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_12_ASD_discovery_cases
NA
Solid phase hybridization
Illumina Human 1M-Duo DNA Analysis Bead Chip
PennCNV, QuantiSNP, Gnosis
CNVision
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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)
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
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
No
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
davis_12_ASD_discovery_cases-case1
12 yrs.
M
Autism
Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.
Vineland adaptive behavior scale, 98 (45th %ile).
3805789
3817707
11919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5106_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3264662
3299804
35143
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D036
20 mos. 1 day
F
Developmental delay/Intellectual disability
4209749
4822693
612945
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case11282.p1
N/A
M
ASD
ASD proband from SSC quad family 11282. SRS score of 89.
Full-scale IQ (FSIQ) score of 75.
4541883
4558993
17111
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case11519.p1
N/A
M
ASD
ASD proband from SSC quad family 11519. SRS score of 78.
Full-scale IQ (FSIQ) score of 50.
4541883
4558993
17111
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13809.p1
N/A
M
ASD
ASD proband from SSC quad family 13809. SRS score of 77.
Full-scale IQ (FSIQ) score of 61.
4546308
4558993
12686
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case12379.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
3278420
3283132
4713
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12763.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3678914
3680349
1436
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11714.p1
NA
M
ASD
NA
NA
3547195
3558610
11416
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0172-000
NA
M
ASD
NA
NA
3748484
3899803
151320
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case116603
N/A
M
DCD/ADHD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
5122424
5284947
162524
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5106_3
NA
M
ASD
Language delay, no epilepsy, no dysmorphic features, CT scan normal
Below average nonverbal IQ (<1%ile)
3264662
3299804
35143
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2763A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1075302; NDAR ID NDAR_INVDF244RFN)
4543761
4558995
15235
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI1144B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
4548685
4685327
136643
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3732774
3757919
25146
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11197.p1
10.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
5124361
5291553
167193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11364.p1
10.1
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 106; verbal IQ, 104
3749084
3752115
3032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
3547659
3555538
7880
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
4820621
4845425
24805
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
3264662
3299804
35143
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13162.p1
9.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 78; verbal IQ, 72
3945113
3956098
10986
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
engchuan_15_ASD_discovery_controls-controlHABC_900356_900356
N/A
N/A
Control
No previous psychiatric history
3193919
3249040
55122
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
N/A
N/A
Control
No previous psychiatric history
4710699
4763997
53299
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split743
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
4680468
5049569
369102
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11282.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11282. SRS score of 42.
4546308
4558993
12686
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C40139A
N/A
F
Control
NIMH Control (NIMH ID 97018)
3278419
3283118
4700
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
5134289
5135691
1403
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
3945113
3956098
10986
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
3945113
3951793
6681
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_12_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
PARP11
engchuan_15_ASD_discovery_cases-case5106_3
Unknown
TSPAN9
han_22_ASD/DD/ID_discovery_cases-case17D036
Unknown
CCND2,FGF6,GALNT8,C12orf4,TIGAR,KCNA6,NDUFA9,GAU1,CCND2-AS1,FGF23,DYRK4,AKAP3,RAD51AP1
krumm_13_ASD_discovery_cases-case11282.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Not segregated
RAD51AP1
krumm_13_ASD_discovery_cases-case11519.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
RAD51AP1
krumm_13_ASD_discovery_cases-case13809.p1
Paternal
Simplex
Segregated
RAD51AP1
krumm_15_ASD_discovery_cases-case12379.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
TSPAN9
krumm_15_ASD_discovery_cases-case12763.p1
1M-Duov3
De novo
Simplex
Segregated
CRACR2A
levy_11_ASD_discovery_cases-11714.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
PRMT8
marshall_08_ASD_discovery_cases-NA0172-000
qPCR, qmPCR
Unknown
NA
NA
OTUD4P1,CRACR2A,PARP11
mosca_16_DCD_discovery_cases-case116603
Unknown
Multi-generational
Unknown
LINC02443
pinto_10_ASD_discovery_cases-case5106_3
qPCR-Paternal,Affy500K,Agilent1M
paternal
Multiplex
Segregated
TSPAN9
poultney_13_ASD_discovery_cases-case04HI2763A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RAD51AP1
poultney_13_ASD_discovery_cases-case99HI1144B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RAD51AP1,AKAP3,NDUFA9,DYRK4
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11197.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC02443
sanders_11_ASD_discovery_cases-11364.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CRACR2A
sanders_11_ASD_discovery_cases-11714.p1
Unknown
Simplex (quad-proband matched)
Segregated
PRMT8
sanders_11_ASD_discovery_cases-12287.p1
Paternal
Simplex (trio)
NA
GALNT8
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
TSPAN9
sanders_11_ASD_discovery_cases-13162.p1
Unknown
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900356_900356
Unknown
TSPAN9
engchuan_15_ASD_discovery_controls-controlHABC_901254_901254
Unknown
GAU1,GALNT8
kanduri_15_ASD_discovery_controls-control_split743
Unknown
AKAP3,DYRK4,GALNT8,KCNA1,KCNA6,NDUFA9
krumm_13_ASD_discovery_controls-control11282.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
RAD51AP1
poultney_13_ASD_discovery_controls-control05C40139A
Unknown
TSPAN9
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11723.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available