14q24.2CNV Type: Deletion-Duplication
Largest CNV size: 53675 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
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epile...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
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.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cabras_12_ASD/MR/EP_discovery_cases
Patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism, and/or epilepsy
10
ASD, mental retardation (MR), and/or epilepsy (EP)
NA
NA
26000
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
350066
1
5
6
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
304000
0
1
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
920190
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
12912
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)
8237
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
21133
1
2
3
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
44406
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
53675
3
1
4
wisniowiecka-kowalnik_10_ASD_discovery_cases
Autistic probands from three families with intragenic rearrangements within the NRXN1 gene
3
Diagnosis of ASD made using ADOS and/or ADI-R.
Range, 4-36 yrs.
33.3% Male
NA
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
447785
1
4
5
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
20426
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
139343
0
1
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)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
21133
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.
18588
0
3
3
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
20710
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cabras_12_ASD/MR/EP_discovery_cases
European
aCGH
BACs aCGH (Cytochips Bluegnome)
Bluefuse Cytochip software
FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
wisniowiecka-kowalnik_10_ASD_discovery_cases
NA
aCGH
BCM MGL/Agilent oligo aCGH (CMA V6.3 OLIGO, V6.4 OLIGO, V6.5 OLIGO)
aCGH
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
cabras_12_ASD/MR/EP_discovery_cases-case2
11 yrs.
M
Mental retardation and epilepsy
Epilepsy, dysmorphic features
Mental retardation
71439536
71465495
26000
Unknown
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14045_780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72900678
73250744
350067
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14173_2800
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73005615
73088463
82849
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20032_1226001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72830235
72926131
95897
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4398_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71773048
71812883
39836
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8649_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
71458612
71496711
38100
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8705_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72911793
73074228
162436
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU002804
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
70353530
70653530
300001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002078
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71647101
72567300
920200
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002114
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
71647101
72567300
920200
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11480.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
72276131
72289043
12913
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3710A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1419302; NDAR ID NDAR_INVVT259HAE)
73099665
73107901
8237
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0027A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
73099665
73107901
8237
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case103021L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
72421959
72443091
21133
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72816L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
71937224
71945712
8489
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case99795
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
70218194
70233026
14833
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
70424753
70469158
44406
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11480.p1
7.9
M
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
72274978
72328653
53676
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
70488527
70497091
8565
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12036.p1
9.6
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
70683704
70695750
12047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
72404136
72408263
4128
GRCh38
Deletion
No
wisniowiecka-kowalnik_10_ASD_discovery_cases-family3patientII-2
7 yrs. 5 mos.
F
ASD
Clinical diagnosis of PDD-NOS at 3 years of age. ADOS evaluation at 7 yrs 5 mos.: met diagnostic cutoffs for autism. ADI-R evaluation: did not meet diagnostic criteria for autism or ASD (unreliability of mother as informant may have affected the outcome of this measure). Birth/neonatal history: first live born child, product of uncomplicated pregnancy. Developmental milestones: continued progress in all areas (increased vocabulary and social interaction). Motor and musculoskeletal evaluation: slight truncal hypotonia. Dysmorphic features: prominent forehead, bitemporal narrowing, prominent midface hypoplasia with decreased intercanthal bilateral distance, mild epicanthal folds, flat nasal bridge, slightly large ears with unusual helix with decreased antihelix and smooth border with prominent helical curve, somewhat short neck, prominent gynecomastia with inverted nipples, some mild truncal obesity, very small hands and fingers with puffy dorsum of the hand, pes cavum with very prominent puffy dorsum of foot and short toes. Growth parameters: height, 78th %ile; weight, 90th %ile; head circumference of 51.5 cm (80th %ile). Family history: mother with reports of atypical behaviors (intermitting mouthing of objects and food-hoarding); father with dyslexia and multiple psychiatric issues; younger maternal half-brother with speech delay but normal gross motor development and no other major medical issues.
NA (72232861-72234122)
NA (72695291-72696109)
NA (approximate size of 463000 bp)
Unknown
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-controlB807498_1007874668
N/A
N/A
Control
No previous psychiatric history
72868461
73316246
447786
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900335_900335
N/A
N/A
Control
No previous psychiatric history
70484517
70545017
60501
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
N/A
N/A
Control
No previous psychiatric history
72595720
72656668
60949
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
N/A
N/A
Control
No previous psychiatric history
71458612
71574741
116130
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
N/A
N/A
Control
No previous psychiatric history
70474049
70545017
70969
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control14333.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
73099379
73119805
20427
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27265
Control
70797464
70936806
139343
Unknown
Duplication
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
71812883
71831471
18589
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11538.s1
9.2
M
Control (matched sibling)
NA
NA
70488527
70497091
8565
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
70488527
70497091
8565
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family45_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
73251012
73265395
14384
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
73244686
73265395
20710
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cabras_12_ASD/MR/EP_discovery_cases-case2
FISH
De novo
Unknown
Possibly segregated
PCNX
engchuan_15_ASD_discovery_cases-case14045_780
Unknown
RN7SL586P,RNU6-419P,DCAF4,RBM25,ZFYVE1,PSEN1,PAPLN
engchuan_15_ASD_discovery_cases-case14173_2800
Unknown
RN7SL586P,RBM25,ZFYVE1
engchuan_15_ASD_discovery_cases-case20032_1226001
Unknown
DPF3
engchuan_15_ASD_discovery_cases-case4398_1
Unknown
engchuan_15_ASD_discovery_cases-case8649_201
Unknown
SIPA1L1
engchuan_15_ASD_discovery_cases-case8705_201
Unknown
RN7SL586P,DCAF4,RBM25,ZFYVE1
girirajan_13a_ASD_discovery_cases-AU002804
Unknown
Multiplex
Unknown
RNU2-51P,ADAM21,RNU6-659P,KRT18P7,RN7SL77P,COX16,ADAM20P1,ADAM20,MED6,SYNJ2BP-COX16,SYNJ2BP,TTC9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002078
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR7843,SIPA1L1,RGS6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002114
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR7843,SIPA1L1,RGS6
krumm_15_ASD_discovery_cases-case11480.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
RGS6
poultney_13_ASD_discovery_cases-case05HI3710A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RBM25
poultney_13_ASD_discovery_cases-case98HI0027A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RBM25
prasad_12_ASD_discovery_cases-case103021L
Unknown
Unknown
Unknown
DPF3
prasad_12_ASD_discovery_cases-case72816L
Unknown
Multiplex
Unknown
RGS6
prasad_12_ASD_discovery_cases-case99795
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
qPCR
De novo
Unknown
Unknown
ADAM21,ADAM20P1
sanders_11_ASD_discovery_cases-11480.p1
Maternal
Simplex (quad-proband matched)
Segregated
RGS6
sanders_11_ASD_discovery_cases-11538.p1
Both parents
Simplex (quad-proband matched)
Segregated
RNU6-659P
sanders_11_ASD_discovery_cases-12036.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
RGS6
wisniowiecka-kowalnik_10_ASD_discovery_cases-family3patientII-2
aCGH
Maternal
Simplex (for ASD)
Unknown
DPF3, DCAF4, ZFYVE1, RBM25, PSEN1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB807498_1007874668
Unknown
RN7SL586P,RNU6-419P,DCAF4,RBM25,DPF3,ZFYVE1,PSEN1,PAPLN,NUMB
engchuan_15_ASD_discovery_controls-controlHABC_900335_900335
Unknown
RNU6-659P,ADAM20
engchuan_15_ASD_discovery_controls-controlHABC_901137_901137
Unknown
DPF3
engchuan_15_ASD_discovery_controls-controlHABC_902554_902554
Unknown
SIPA1L1
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
Unknown
RNU6-659P,ADAM20P1,ADAM20
krumm_15_ASD_discovery_controls-control14333.s1
Omni2.5-4v1
Paternal
RBM25
nord_11_ASD_discovery_controls-04C27265
0 genes
sanders_11_ASD_discovery_controls-11524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11538.s1
Paternal
Simplex (quad)
NA
RNU6-659P
sanders_11_ASD_discovery_controls-12541.s1
Maternal
Simplex (quad)
NA
RNU6-659P
stamouli_18_ASD/NDD_discovery_controls-family45_Twin_2
Unknown
Simplex
PAPLN
stamouli_18_ASD/NDD_discovery_controls-family47_Twin_1
Unknown
Simplex
RNU6-419P,PAPLN
No Animal Model Data Available