15q13.1CNV Type: Deletion-Duplication
Largest CNV size: 289000 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in 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
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
1360727
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
289000
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
127788
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
89876
0
1
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1307967
2
0
2
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
1326404
4
0
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
746818
N/A
N/A
5
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
402000
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)
63253
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
131754
4
2
6
tropeano_16_ASD/NDD_replication_cases
Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)
18857
Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.
N/A
BBGRE cohort, 67% Male; Hospit
469538
0
1
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
937160
0
2
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
364262
0
2
2
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
404281
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
289000
0
0
0
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
153832
0
2
2
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1307967
0
0
0
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
725782
1
0
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.
475230
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
46963
10
0
10
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
364262
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
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)
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
qPCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
qPCR
tropeano_16_ASD/NDD_replication_cases
United Kingdom and Canada
aCGH
Agilent 60K, OGT Cytosure 4x180K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
bacchelli_20_ASD_discovery_cases-caseAB63
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
28716985
30077711
1360727
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU052003
NA
M
ASD
NA
NA
28920195
29208977
288783
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case8467_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28171425
28299213
127789
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU056203
Autism
27147693
27237568
89876
Unknown
Duplication
No
griswold_12_ASD_discovery_cases-case17630
NA
NA
ASD/autism
NA
NA
28919355
30077801
1158447
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case7486
NA
NA
Asperger
NA
NA
28805052
30077711
1272660
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001975
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30822844
32149250
1326407
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002099
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30822844
32149250
1326407
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003975
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30822844
32149250
1326407
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004523
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
30822844
32149250
1326407
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13585.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
29074920
29800702
725783
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13596.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
28111762
28198503
86742
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14074.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
29053884
29800702
746819
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14159.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
28245880
28280287
34408
GRCh38
N/A
Yes
krumm_15_ASD_discovery_cases-case14634.p1
N/A
N/A
ASD
Proband from the Simons Simplex Collection (SSC). Family type: N/A
28245880
28280287
34408
GRCh38
N/A
Yes
peycheva_18_ID/EP_discovery_cases-case381
3 yrs.
M
ID and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: lowered muscle tone. Behavioral/psychiatric evaluation: normal. Epilepsy/seizures: generalized tonic-clonic seizures. Dysmorphic features: epicanthus, short philtrum. Growth parameters: microcephaly. Family history: 15q13.1 duplication was also observed in the patient's mother, her sister, and grandmother, all of whom have intellectual disability with variable severity, a history of epileptic seizures, and possible psychiatric abnormalities; this duplication is not observed in the patient's healthy grandfather.
Severe intellectual disability
28851240
29205890
354651
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0798
N/A
M
ASD
ASD case from AGRE (AGRE ID AU056203; NDAR ID NDAR_INVWU852MLK)
29053883
29117135
63253
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12007.p1
8.7
F
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
28083619
28215373
131755
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12081.p1
12.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 87; verbal IQ, 92
29502952
29556483
53532
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
28340072
28424609
84538
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
28054308
28065828
11521
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
29609012
29610558
1547
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
29613657
29614108
452
GRCh38
Deletion
No
tropeano_16_ASD/NDD_replication_cases-case68
4- 10 years
M
Developmental delay
Short stature, developmental delay, speech and language delay. Family history: Father attended a special school, current alcohol/drug abuse (not available for testing); Grandfather (paternal) had dyslexia; Grandmother (maternal) has severe depression.
28694892
29117373
422482
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case28
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
29136885
30074044
937160
GRCh38
Duplication
No
wenger_16_ASD_discovery_cases-case29
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: 47XX+DIC
29136885
30037005
900121
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case475
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
28464134
28828395
364262
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case476
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
28464134
28828395
364262
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01716s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
27844708
28248988
404281
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
engchuan_15_ASD_discovery_controls-controlHABC_900473_900473
N/A
N/A
Control
No previous psychiatric history
29065543
29157526
91984
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
N/A
N/A
Control
No previous psychiatric history
29574070
29727902
153833
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13585.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
29074920
29800702
725783
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C28495
Control
26997424
27472653
475230
Unknown
Duplication
sanders_11_ASD_discovery_controls-11458.s1
14.5
M
Control (matched sibling)
NA
NA
29609012
29610558
1547
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
29631537
29678500
46964
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
28054308
28059841
5534
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
28099092
28118043
18952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
28054308
28065828
11521
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
29609012
29610558
1547
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
29611813
29614108
2296
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12363.s1
21.9
M
Control (matched sibling)
NA
NA
28058476
28059841
1366
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
29613657
29614108
452
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12682.s1
8.1
M
Control (matched sibling)
NA
NA
28054308
28059841
5534
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB63
Paternal
Simplex
GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8M,WHAMMP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
christian_08_ASD_discovery_cases-AU052003
FISH, microsatellite
inherited
Multiplex
NA
APBA2,FAM189A1
engchuan_15_ASD_discovery_cases-case8467_202
Unknown
HERC2
gai_11_ASD_replication_cases-AU056203
Inherited
APBA2, FAM189A1
griswold_12_ASD_discovery_cases-case17630
qPCR
Maternal
Multiplex
Segregated
NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,APBA2,TJP1,FAM189A1
griswold_12_ASD_discovery_cases-case7486
qPCR
Maternal
Simplex
Segregated
GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PDCD6IPP2,APBA2,TJP1,FAM189A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001975
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002099
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003975
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004523
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
krumm_15_ASD_discovery_cases-case13585.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NSMCE3,TUBBP8,HMGN2P5,APBA2,TJP1,FAM189A1
krumm_15_ASD_discovery_cases-case13596.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
HERC2
krumm_15_ASD_discovery_cases-case14074.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
NSMCE3,TUBBP8,HMGN2P5,APBA2,TJP1,FAM189A1
krumm_15_ASD_discovery_cases-case14159.p1
aCGH
De novo
Simplex
Likely segregated
HERC2
krumm_15_ASD_discovery_cases-case14634.p1
aCGH
De novo
Simplex
Likely segregated
HERC2
peycheva_18_ID/EP_discovery_cases-case381
qPCR
Maternal
Maternal
Multi-generational
Segregated
PDCD6IPP2,APBA2,FAM189A1
poultney_13_ASD_discovery_cases-case99HI0798
Unknown
Unknown (likely multiplex/AGRE)
Unknown
APBA2
sanders_11_ASD_discovery_cases-12007.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
OCA2,HERC2
sanders_11_ASD_discovery_cases-12081.p1
Paternal
Simplex (trio)
NA
FAM189A1
sanders_11_ASD_discovery_cases-12478.p1
Unknown
Simplex (quad-proband matched)
Segregated
GOLGA8F,RN7SL238P,ABCB10P3
sanders_11_ASD_discovery_cases-12638.p1
Both parents
Simplex (quad-proband matched)
Segregated
OCA2
sanders_11_ASD_discovery_cases-12656.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12656.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TUBBP8
tropeano_16_ASD/NDD_replication_cases-case68
Unknown
Multi-generational
Unknown
RN7SL719P,GOLGA6L7,GOLGA8M,WHAMMP2,PDCD6IPP2,APBA2
wenger_16_ASD_discovery_cases-case28
Unknown
NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,TJP1,FAM189A1
wenger_16_ASD_discovery_cases-case29
Unknown
NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,TJP1,FAM189A1
yin_16_ASD_discovery_cases-case475
Unknown
Unknown
Unknown
MIR4509-3,HERC2P11,RN7SL719P,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,PDCD6IPP2
yin_16_ASD_discovery_cases-case476
Unknown
Unknown
Unknown
MIR4509-3,HERC2P11,RN7SL719P,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,PDCD6IPP2
yuan_23_ASD_discovery_cases-qma01716s000
De novo
OCA2,RPL5P32,HERC2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900473_900473
Unknown
APBA2,FAM189A1
engchuan_15_ASD_discovery_controls-controlHABC_900612_900612
Unknown
TUBBP8,TJP1
krumm_15_ASD_discovery_controls-control13585.s1
1M-Duov3
Paternal
NSMCE3,TUBBP8,HMGN2P5,APBA2,TJP1,FAM189A1
nord_11_ASD_discovery_controls-04C28495
APBA2,NDNL2,FAM189A1
sanders_11_ASD_discovery_controls-11458.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11587.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Maternal
Simplex (quad)
NA
OCA2
sanders_11_ASD_discovery_controls-11990.s1
Unknown
Simplex (quad)
NA
OCA2,HERC2
sanders_11_ASD_discovery_controls-12225.s1
Unknown
Simplex (quad)
NA
OCA2
sanders_11_ASD_discovery_controls-12341.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
TUBBP8
sanders_11_ASD_discovery_controls-12363.s1
Unknown
Simplex (quad)
NA
OCA2
sanders_11_ASD_discovery_controls-12578.s1
Unknown
Simplex (quad)
NA
TUBBP8
sanders_11_ASD_discovery_controls-12682.s1
Unknown
Simplex (quad)
NA
OCA2
No Animal Model Data Available