3q13.13CNV Type: Deletion-Duplication
Largest CNV size: 437956 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic i...
Deletion
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
408704
1
0
1
labonne_16_DD/EP_discovery_cases
Patient with overlapping clinical features of 12q24.31 microdeletion syndrome (DGDP343)
1
Case presented with developmental delay, epilepsy, hypotonia, and autistic behaviors (limited social interaction, repetitive behaviors)
3 yrs.
Male
453000
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
800000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
47035
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
39737
0
1
1
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
145234
2
0
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
437956
16
2
18
siu_16_ASD_discovery_cases
41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T
68
Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.
Range, 2-33 yrs. (median age of 25 yrs.)
88.23% Male
550000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
408704
0
0
0
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
800000
0
3
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
75180
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)
195900
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)
39737
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.
445167
10
1
11
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
480629
0
4
4
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
labonne_16_DD/EP_discovery_cases
White
aCGH
Agilent 4x180K
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
siu_16_ASD_discovery_cases
Hong Kong
aCGH
NimbleGen CGX-135K
DEVA, Genoglyphix
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
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
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
girirajan_11_ASD_discovery_cases-Si117
10
M
Autism
ADOS score: 9. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.
110461238
110869942
408705
GRCh38
Deletion
No
labonne_16_DD/EP_discovery_cases-caseDGDP343
3 yrs.
M
Developmental delay, epilepsy, and autistic feature
Birth/neonatal history: born at 41 weeks 5 days by vaginal delivery after uneventful pregnancy. Developmental milestones: case displayed significant torticollis and developmental delay at approximately 6 months of age; sat at 11.5 months, exhibited command crawling at 15 months; crawling and maintaining a standing position using the wall for support at age of 1 year 10 months. Lanaguage and communication evaluation: severely delayed pre-language skills; developing pragmatic skills at 3-6 month age level and developing interaction-attachment skills at 9-12 months age lecel on Rossetti Infant-Toddler Scale; severely delayed social pragmatic skills; case exhibited less than half of the language comprehension skills at the 12-15 month age level on the Rossetti Infant-Toddler Scale and half of the skills at the 9-12 month age level, as well as severely delayed receptive and expressive language skills, at age of 2 years 3 months. Motor and musculoskeletal evalaution: case diagnosed with mild-moderate hypotonia at age of 2 years 3 months; poor head righting bilaterally, mild-moderate head lag, significant tightness in motion, early stages of four-point crawling observed; evaluation of gross motor skills at age of 2 years 3 months placed gross motor skills at approximately a 7-month-old level; delayed fine motor skills noted at age of 2 years 3 months; mild tapering fingers. Behavioral/psychiatric evaluation: high pain tolerance noted at age of 2 years 3 months; enjoyment of exaggerated sensations (such as loud music), lack of engagement in creative or pretend play, very limited social interaction, some unusual finger movements, and repetitive arm scratching noted at age of 2 years 11 months (behaviors compatible with ASD diagnosis). Epilepsy/seizures: myoclonic seizures began at age of 1 year 6 months, followed by screaming seizures; epilepsy categorized as E3 generalized, E3 multifocal, D1 generalized indicating a change in epilepsy time over time at age of 2 years 6 months; myoclonic seizures replaced by tonic seizures at age of 2 years 9 months. EEG: generalized epileptiform activity classified as E1, generalized at age of 1 year 7 months; very active epileptifrom disturbance classifying epilepsy as E3, generalized at age of 2 years. Dysmorphic features: narrow face, prominent forehead, hypertelorism, mild plagiocephaly. Growth parameters: head circumference 4th %ile at age of 4 years 2 months.
Developmental delay
110743867
111196776
452910
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU0786303
N/A
M
ASD
108735153
109519153
784001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12100.p1
NA
M
ASD
NA
NA
109460145
109507179
47035
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case91551L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
111340038
111379774
39737
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1270-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
111405156
111550389
145234
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1483-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
111405156
111550389
145234
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11075.p1
6.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
110138950
110142394
3445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11096.p1
13.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11376.p1
7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
109530224
109537563
7340
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11543.p1
16.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11577.p1
14.5
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
110513572
110597840
84269
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12048.p1
7.2
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 87; verbal IQ, 40
109530224
109537563
7340
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
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
111074203
111078490
4288
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
109454369
109506909
52541
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
110447171
110885127
437957
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13041.p1
7
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13152.p1
7.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
109770687
110074938
304252
GRCh38
Duplication
No
siu_16_ASD_discovery_cases-patient9
Adult (22-33 yrs.)
M
ASD
Diagnosis of ASD made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and confirmed with the developmental, dimensional and diagnostic interview during adulthood. No additional clinical features reported.
IQ of 96 [as determined by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version]
110545629
111095547
549919
GRCh38
Duplication
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
leppa_16_ASD_discovery_controls-AU0786301
N/A
M
Control
Unaffected sibling
108735153
109519153
784001
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU0786302
N/A
F
Control
Unaffected sibling
108735153
109519153
784001
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU0786304
N/A
M
Control
Unaffected sibling
108735153
109519153
784001
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12674.s1
NA
F
Control
NA
NA
108833978
108909157
75180
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37831A
N/A
F
Control
NIMH Control (NIMH ID 92135)
108908020
109103919
195900
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
110138950
110149179
10230
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11355.s1
5.4
F
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
110543017
110553645
10629
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11544.s1
17.7
M
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
109686567
109697262
10696
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
110447171
110892338
445168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
108834113
108908387
74275
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
111074203
111077564
3362
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
111048814
111193129
144316
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
110307988
110777529
469542
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
111048814
111189548
140735
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
110296901
110777529
480629
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_11_ASD_discovery_cases-Si117
Unknown
Simplex
RNU6ATAC15P,RPSAP29
labonne_16_DD/EP_discovery_cases-caseDGDP343
Maternal
Simplex
Not segregated
NECTIN3-AS1,NECTIN3
leppa_16_ASD_discovery_cases-AU0786303
Paternal
Multiplex
Not segregated (CNV not present in affected sibling; CNV also present in three unaffected siblings: AU0786301, AU0786302, and AU0786304)
MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,RETNLB,TRAT1,C3orf85,DPPA4,GUCA1C,LINC00488,DPPA2,LINC01205,MORC1
levy_11_ASD_discovery_cases-12100.p1
Paternal
Simplex
Segregated
PPIAP15,LINC01205
prasad_12_ASD_discovery_cases-case91551L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1270-0
qPCR
Maternal
Unknown
Unknown
ATP6V0CP2,CD96
sajan_13_ACC/CBLH/PMG_discovery_cases-case1483-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
ATP6V0CP2,CD96
sanders_11_ASD_discovery_cases-11025.p1
Maternal
Simplex (trio)
NA
NECTIN3
sanders_11_ASD_discovery_cases-11075.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-11165.p1
Paternal
Simplex (trio)
NA
NECTIN3
sanders_11_ASD_discovery_cases-11376.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11543.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-11577.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NECTIN3
sanders_11_ASD_discovery_cases-11897.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6ATAC15P
sanders_11_ASD_discovery_cases-12048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-12072.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NECTIN3
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Segregated
PPIAP15,LINC01205
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NECTIN3
sanders_11_ASD_discovery_cases-12235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6ATAC15P,RPSAP29
sanders_11_ASD_discovery_cases-12441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-13041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NECTIN3
sanders_11_ASD_discovery_cases-13152.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
siu_16_ASD_discovery_cases-patient9
Unknown
Unknown
Unknown
RNU6ATAC15P,RPSAP29,NECTIN3-AS1,NECTIN3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leppa_16_ASD_discovery_controls-AU0786301
Paternal
Multiplex
MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,RETNLB,TRAT1,C3orf85,DPPA4,GUCA1C,LINC00488,DPPA2,LINC01205,MORC1
leppa_16_ASD_discovery_controls-AU0786302
Paternal
Multiplex
MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,RETNLB,TRAT1,C3orf85,DPPA4,GUCA1C,LINC00488,DPPA2,LINC01205,MORC1
leppa_16_ASD_discovery_controls-AU0786304
Paternal
Multiplex
MORC1-AS1,RNU6-1236P,H3F3AP3,PPIAP15,RETNLB,TRAT1,C3orf85,DPPA4,GUCA1C,LINC00488,DPPA2,LINC01205,MORC1
levy_11_ASD_discovery_controls-12674.s1
Paternal
Simplex
NA
TRAT1,GUCA1C
poultney_13_ASD_discovery_controls-control04C37831A
Unknown
MORC1-AS1,GUCA1C,MORC1
sanders_11_ASD_discovery_controls-11075.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11355.s1
Paternal
Simplex (quad)
NA
NECTIN3
sanders_11_ASD_discovery_controls-11505.s1
Unknown
Simplex (quad)
NA
RNU6ATAC15P
sanders_11_ASD_discovery_controls-11544.s1
Maternal
Simplex (quad)
NA
NECTIN3
sanders_11_ASD_discovery_controls-12061.s1
Paternal
Simplex (quad)
NA
NECTIN3
sanders_11_ASD_discovery_controls-12117.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
RNU6ATAC15P,RPSAP29
sanders_11_ASD_discovery_controls-12441.s1
Maternal
Simplex (quad)
NA
NECTIN3
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
TRAT1,GUCA1C
sanders_11_ASD_discovery_controls-13006.s1
Paternal
Simplex (quad)
NA
NECTIN3
sanders_11_ASD_discovery_controls-13041.s1
Maternal
Simplex (quad)
NA
NECTIN3
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
Unknown
N/A (both twins typically developing)
NECTIN3-AS1,NECTIN3
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_1
Unknown
N/A (both twins typically developing)
RNU6ATAC15P,RPSAP29
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
Unknown
N/A (both twins typically developing)
NECTIN3-AS1,NECTIN3
stamouli_18_ASD/NDD_discovery_controls-family43_Twin_2
Unknown
N/A (both twins typically developing)
RNU6ATAC15P,RPSAP29
No Animal Model Data Available