8q13.2CNV Type: Deletion-Duplication
Largest CNV size: 234600 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 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 de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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 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
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
99000
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
237611
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
102225
0
3
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
35970
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)
43327
0
1
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
9752
1
0
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
575432
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
234600
12
1
13
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
74398
0
1
1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
3
All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
Range, 11-21 yrs.
66.67% Male
145000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
94517
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
43009
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
35970
1
0
1
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)
41852
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)
9752
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.
65120
7
0
7
stamouli_18_ASD/NDD_discovery_controls
Unaffected 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
Control (unaffected) individual 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 and
N/A
N/A
85274
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
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
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Spain
aCGH
Agilent 400K
Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
MLPA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
digregorio_17_DD/ID_discovery_cases-DECIPHER_300354
N/A
F
Developmental delay/intellectual disability
67113850
67213083
99234
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2291_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
68118624
68356235
237612
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case13440.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
68776374
68818294
41921
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
67115913
67204819
88907
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14491.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
67115913
67218138
102226
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12061.p1
NA
F
ASD
NA
NA
68529626
68565595
35970
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI4100A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1547301; NDAR ID N/A)
68044485
68087811
43327
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case89851L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
68552023
68561774
9752
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_54
6 yrs.
M
Intellectual disability
Language delay, dysmorphic facial features
Intellectual disability
67734068
68309499
575432
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11680.p1
8
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
68528981
68577894
48914
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
68770153
68775617
5465
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
68340182
68405302
65121
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12385.p1
13.6
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
68871804
68899122
27319
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
68958995
68962815
3821
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
69289470
69293928
4459
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12851.p1
4.7
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
67764333
67998933
234601
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family7_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
67365648
67440045
74398
GRCh38
Duplication
Yes
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
11 yrs.
M
ADHD and intellectual disability
Diagnosis of attention deficit hyperactivity disorder (ADHD) at age of 9 years. Birth/neonatal history: during pregnancy, mother suffered hyperemesis gravidarum and had surgical intervention for sacral cyst and retroplacental hematoma; born full-term with birth weight of 2800 g and length of 50 cm; no congenital abnormalities observed at birth; had breastfeeding and artificial feeding difficulties and frequent vomiting. Developmental milestones: unable to chew, had not acquired any language, and presented severe sleep disturbances at age of 3 years. Language and communication evaluation: language impairment (both expression and comprehension). Behavioral/psychiatric evaluation: autistic traits with hyperactivity and challenging behavior; presented many fears, sleep disturbances, and looked very anxious. Dysmorphic features: mildly long face, deep set eyes, prominent premaxilla, long philtrum. Growth parameters: height 3rd %ile, weight 3rd %ile, OFC 3rd %ile. Family history: only child of non-consanguineous parents; family history of borderline IQ (dysexecutive pattern) and psychiatric disorder (anxiety) in mother and two maternal aunts; father required treatment for OCD and showed reduced verbal memory.
Mild intellectual disability (IQ of 53); neuropsychological profile characterized by language impairment (both expression and comprehension), poor working memory, and attention.
69367163
69512334
145172
GRCh38
Duplication
Yes
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-controlB611425_1007873622
N/A
N/A
Control
No previous psychiatric history
68902343
68996860
94518
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
N/A
N/A
Control
No previous psychiatric history
68528981
68565771
36791
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
N/A
N/A
Control
No previous psychiatric history
68340182
68405302
65121
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control14012.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
67161810
67204819
43010
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12061.s1
NA
M
Control
NA
NA
68529626
68565595
35970
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C42353
N/A
F
Control
NIMH Control (NIMH ID 12920)
68776397
68818248
41852
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
67636600
67638275
1676
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
68528981
68565771
36791
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
68340182
68405302
65121
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
68766265
68775617
9353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
68850025
68852890
2866
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
68958995
68962815
3821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13082.s1
4
M
Control (matched sibling)
NA
NA
68693678
68716852
23175
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family7_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
67365648
67450921
85274
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300354
Maternal
ARFGEF1,CSPP1
engchuan_15_ASD_discovery_cases-case2291_1
Unknown
RPL31P40,C8orf34-AS1,C8orf34,PREX2
krumm_15_ASD_discovery_cases-case13440.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
C8orf34
krumm_15_ASD_discovery_cases-case14012.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ARFGEF1,CSPP1
krumm_15_ASD_discovery_cases-case14491.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ARFGEF1,CSPP1
levy_11_ASD_discovery_cases-12061.p1
Maternal
Simplex
Not segregated
C8orf34
poultney_13_ASD_discovery_cases-case05HI4100A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PREX2
prasad_12_ASD_discovery_cases-case89851L
Unknown
Unknown
Unknown
CPA6
quintela_17_DD/ID_discovery_cases-caseID_54
Unknown
Unknown
NDUFS5P6,RPL31P40,C8orf34-AS1,CPA6,PREX2
sanders_11_ASD_discovery_cases-11041.p1
Paternal
Simplex (quad-proband matched)
Segregated
CPA6
sanders_11_ASD_discovery_cases-11567.p1
Both parents
Simplex (quad-proband matched)
Not segregated
CPA6
sanders_11_ASD_discovery_cases-11680.p1
Maternal
Simplex (trio)
NA
CPA6
sanders_11_ASD_discovery_cases-12009.p1
Maternal
Simplex (trio)
NA
CPA6
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C8orf34
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C8orf34
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
C8orf34
sanders_11_ASD_discovery_cases-12115.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CPA6
sanders_11_ASD_discovery_cases-12385.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01592
sanders_11_ASD_discovery_cases-12454.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12722.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CPA6
sanders_11_ASD_discovery_cases-12851.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NDUFS5P6,PREX2
stamouli_18_ASD/NDD_discovery_cases-family7_Twin_2
qPCR
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
CPA6
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
MLPA
Maternal
Unknown
Multi-generational
Unknown
LINC01603,SULF1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
Unknown
LINC01592
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
Unknown
C8orf34
engchuan_15_ASD_discovery_controls-controlHABC_900577_900577
Unknown
C8orf34
krumm_15_ASD_discovery_controls-control14012.s1
Omni2.5-4v1
Maternal
ARFGEF1,CSPP1
levy_11_ASD_discovery_controls-12061.s1
Maternal
Simplex
NA
C8orf34
poultney_13_ASD_discovery_controls-control05C42353
Unknown
C8orf34
sanders_11_ASD_discovery_controls-11567.s1
Both parents
Simplex (quad)
NA
CPA6
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
C8orf34
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
C8orf34
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
C8orf34
sanders_11_ASD_discovery_controls-12073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12418.s1
Paternal
Simplex (quad)
NA
LINC01592
sanders_11_ASD_discovery_controls-13082.s1
Unknown
Simplex (quad)
NA
RNA5SP269,C8orf34
stamouli_18_ASD/NDD_discovery_controls-family7_Twin_1
qPCR
Unknown
Simplex
CPA6
No Animal Model Data Available