4q23CNV Type: Deletion-Duplication
Largest CNV size: 1348000 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
baroy_13_ID/ASD_discovery_cases
Five unrelated patients with variable degree of cognitive impairment ranging from borderline IQ to severe intellectual disability (University of Olso/Olso University Hospital, Norway).
5
Intellectual disability (ID) in four cases (borderline IQ in one case); one case (patient 3) with additional diagnosis of ASD (based on ADOS evaluation).
Range, 4-17 yrs.
40% Male
463000
0
1
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
78349
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
2065789
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
44712
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
86067
1
4
5
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
1034259
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47396
0
2
2
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
338242
1
0
1
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
104315
3
2
5
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
128789
1
1
2
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
52515
2
2
4
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
1348000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
176218
1
3
4
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
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
36435
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
36435
1
2
3
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
1034259
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
56863
1
2
3
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)
104315
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.
52515
2
2
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
baroy_13_ID/ASD_discovery_cases
Norwegian (n=3), Norwegian/English (n=1), Lebanese (n=1)
aCGH
Agilent 4x44K, 2x105A, 4x180K or 244A
Feature Extraction, DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
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)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
baroy_13_ID/ASD_discovery_cases-patient3
6.5 yrs.
F
ASD and intellectual disability
Evaluation with ADOS showed behavior consistent with ASD. Birth/neonatal history: unevenful pregnancy and delivery, all birth measures (weight, length, OFC) at 25th %ile; large umbilical hernia noted at birth; neonatal hypotonia; a few episodes of apnea with cyanosis of unknown case (normal EEG except for unspecified slow wave activity. Developmental milestones: crawled at 12 months, walked at 18 months. Language and communication evaluation: severely delayed language development, with a vocabulary of <50 words; unable to speak in sentences. Motor and musculoskeletal evaluation: unsteady gait; normal muscle tone. Behavioral/psychiatric evaluation: ASD (based on ADOS evaluation), hyperactivity. Epilepsy/seizures: none. Brain imaging: brain MRI at 3 months was normal. Sleep disturbances: sleeping difficulties. Dysmorphic features: broad forehead, frontal bossing, prominent supraorbital ridges, deep set eyes, hypertelorism, infraorbital dark circles, midface hypoplasia, bulbous nasal tip, full lips, marked Cupid's bow, prominent or pointed chin, clinodactyly 5th fingers, underlying 5th toes, 2nd and 4th toes lying over 3rd toes, irregularly placed frontal teeth. Growth parameters: weight of 24.7 kg (50th %ile), height of 127 cm (90th %ile), and OFC of 53.5 cm (75th-90th %ile) at 6.5 years of age. Family history: first of two children of non-consanguineous healthy Norwegian parents.
Severe intellectual disability (IQ 20-34) (based on testing with Bailey II at age 5 years 10 months, which showed cognitive functions corresponding to 12-13 months).
99203675
99666984
463310
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5521_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100638183
100716532
78350
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004321
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97972342
100038125
2065784
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11622.p1
N/A
M
ASD
ASD proband from SSC quad family 11622. SRS score of 90.
Full-scale IQ (FSIQ) score of 97.
99816913
99861625
44713
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11505.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99413147
99435269
22123
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11622.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99816913
99853348
36436
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12607.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
99611331
99622850
11520
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13895.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
99124441
99210502
86062
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14387.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
99816913
99861625
44713
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case8
N/A
M
ASD and psychosis
Male, learning disabilities, psychosis onset late teens, diagnosis of psychosis NOS, family history data not available. CNV not reported in DGV.
Learning disabilities
98488431
99522684
1034254
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11505.p1
NA
M
ASD
NA
NA
99402564
99447572
45009
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11622.p1
NA
M
ASD
NA
NA
99813813
99861208
47396
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case34
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: RAP1GDS1 deletion (ACMG)
98134346
98472588
338243
GRCh38
Deletion
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
101783579
101834645
51067
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115813L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
100954989
101000711
45723
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case117463L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
100954989
101000711
45723
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case59640L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
99278236
99382550
104315
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case95657
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
100239972
100254226
14255
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1476-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
99280921
99311443
30523
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-181
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: autistic features. Seizures: yes (onset at 4 yrs).
Developmental delay: yes. Intellectual disability: N/A.
98179900
98308688
128789
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
99893023
99900297
7275
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
99403834
99456349
52516
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
99813107
99860886
47780
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11733.p1
5.5
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
100042890
100074659
31770
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-038
NA
M
ASD
NA
NA
99471633
100819371
1347739
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-controlB333151_1007853867
N/A
N/A
Control
No previous psychiatric history
98218141
98394359
176219
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB525694_1007854064
N/A
N/A
Control
No previous psychiatric history
99403834
99446583
42750
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900279_900279
N/A
N/A
Control
No previous psychiatric history
100638183
100695124
56942
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900950_900950
N/A
N/A
Control
No previous psychiatric history
100009816
100042890
33075
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control11622.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11622. SRS score of 50.
99816913
99853348
36436
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11505.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99428086
99435269
7184
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11622.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
99816913
99853348
36436
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13660.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
100124619
100143859
19241
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11505.s1
NA
F
Control
NA
NA
99402564
99447572
45009
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11622.s1
NA
F
Control
NA
NA
99813813
99861208
47396
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12072.s1
NA
F
Control
NA
NA
98138157
98195019
56863
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
99403834
99456349
52516
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
99250222
99262266
12045
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
99813107
99860886
47780
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
98822171
98827837
5667
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
baroy_13_ID/ASD_discovery_cases-patient3
Unknown
Likely simplex
Unknown
ADH6,ADH1A,ADH7,C4orf17,TRMT10A,C4orf54,ADH1B,ADH1C,MTTP
engchuan_15_ASD_discovery_cases-case5521_3
Unknown
EMCN,LINC01216
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004321
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DUTP8,BTF3P13,TBCAP3,FAM177A1P1,RNU7-149P,NDUFS5P4,MIR3684,ABT1P1,PCNAP1,H2AFZ,RPL5P12,EIF4E,METAP1,ADH5,ADH4,ADH6,ADH1A,ADH7,C4orf17,TRMT10A,C4orf54,DAPP1,LAMTOR3,DNAJB14,RAP1GDS1,ADH1B,ADH1C,STPG2,TSPAN5,MTTP
krumm_13_ASD_discovery_cases-case11622.p1
Paternal
Simplex
Not segregated
DAPP1
krumm_15_ASD_discovery_cases-case11505.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ADH7
krumm_15_ASD_discovery_cases-case11622.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
DAPP1
krumm_15_ASD_discovery_cases-case12607.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MTTP
krumm_15_ASD_discovery_cases-case13895.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PCNAP1,ADH4,ADH6
krumm_15_ASD_discovery_cases-case14387.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
DAPP1
larson_17_ASD_discovery_cases-case8
Unknown
Unknown
Unknown
BTF3P13,TBCAP3,FAM177A1P1,RNU7-149P,NDUFS5P4,MIR3684,ABT1P1,PCNAP1,EIF4E,METAP1,ADH5,ADH4,ADH6,ADH1A,ADH7,C4orf17,ADH1B,ADH1C,TSPAN5
levy_11_ASD_discovery_cases-11505.p1
Maternal
Simplex
Not segregated
ADH7
levy_11_ASD_discovery_cases-11622.p1
Paternal
Simplex
Not segregated
DAPP1
pfundt_16_NDD_discovery_cases-case34
RAP1GDS1,STPG2,TSPAN5
prasad_12_ASD_discovery_cases-case100579L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case115813L
qPCR
Paternal
Simplex
Segregated
DAPP1
prasad_12_ASD_discovery_cases-case117463L
qPCR
Paternal
Simplex
Not segregated (duplication present in unaffected sibling)
DAPP1
prasad_12_ASD_discovery_cases-case59640L
Unknown
Unknown
Unknown
C4orf37
prasad_12_ASD_discovery_cases-case95657
Unknown
Unknown
Unknown
LOC100507053
sajan_13_ACC/CBLH/PMG_discovery_cases-case1476-0
qPCR
Maternal
Unknown
Unknown
ADH1A,ADH1B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-181
qPCR
Unknown
Unknown
Unknown
RAP1GDS1
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
LAMTOR3,DNAJB14
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ADH7
sanders_11_ASD_discovery_cases-11622.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DAPP1
sanders_11_ASD_discovery_cases-11733.p1
Paternal
Simplex (trio)
NA
shen_10_ASD_discovery_cases-ASD-09-038
De novo
NA
NA
H2AFZ,DYNLL1P6,LINC01217,LINC01218,C4orf17,TRMT10A,C4orf54,DAPP1,LAMTOR3,DNAJB14,DDIT4L,MTTP,EMCN,LINC01216
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
Unknown
RAP1GDS1
engchuan_15_ASD_discovery_controls-controlB525694_1007854064
Unknown
ADH7
engchuan_15_ASD_discovery_controls-controlHABC_900279_900279
Unknown
EMCN,LINC01216
engchuan_15_ASD_discovery_controls-controlHABC_900950_900950
Unknown
DYNLL1P6
krumm_13_ASD_discovery_controls-control11622.s1
Paternal
Simplex
DAPP1
krumm_15_ASD_discovery_controls-control11505.s1
Illumina 1M
Maternal
ADH7
krumm_15_ASD_discovery_controls-control11622.s1
Illumina 1MDuo
Paternal
DAPP1
krumm_15_ASD_discovery_controls-control13660.s1
1M-Duov3
Paternal
levy_11_ASD_discovery_controls-11505.s1
Maternal
Simplex
NA
ADH7
levy_11_ASD_discovery_controls-11622.s1
Paternal
Simplex
NA
DAPP1
levy_11_ASD_discovery_controls-12072.s1
Paternal
Simplex
NA
STPG2
sanders_11_ASD_discovery_controls-11505.s1
Maternal
Simplex (quad)
NA
ADH7
sanders_11_ASD_discovery_controls-11510.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Paternal
Simplex (quad)
NA
DAPP1
sanders_11_ASD_discovery_controls-11918.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available