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15q13.1CNV Type: Deletion-Duplication


Largest CNV size: 289000 bp

Statistics Box:
Number of Reports: 13



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
NA
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
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_cases
  NA NA
 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
  NA NA
 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

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_20_ASD_discovery_controls
  NA NA
 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

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
  NA NA
 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
  NA NA
 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

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
 

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
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