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15q22.2CNV Type: Deletion-Duplication


Largest CNV size: 106228 bp

Statistics Box:
Number of Reports: 8



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
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 273
 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
 112002
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 62890
 0
 2
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 106228
 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
 21880
 6
 0
 6
 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
 106108
 6
 2
 8
 yamamoto_14_DD/ID/EP_discovery_cases
 Patients with microdeletions involving the 15q22.2 region presenting with neurological symptoms
 4
 Developmental delay/intellectual disability (all 4 cases), epilepsy (3 cases), and autistic features (1 case)
 Range, 3-14 yrs.
 50% Male
 654000
 1
 0
 1
 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
 287875
 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
 175686
 5
 0
 5
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 62752
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 106228
 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)
 21880
 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.
 
 99497
 5
 2
 7
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 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
 163827
 0
 1
 1
 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
 287875
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 
 
 yamamoto_14_DD/ID/EP_discovery_cases
  N/A
 aCGH
  Agilent 60K, Agilent 44K
 
 
 Microarray
 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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  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
  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
  celestino-soper_11_ASD_discovery_cases-11076
 NA
 M
 ASD
 NA
 NA
 60502598
 60502871
  274
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4241_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 62869339
 62981341
  112003
 GRCh38
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11199.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 59458626
 59521378
  62753
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13871.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 63126858
 63189748
  62891
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11199.p1
 NA
 M
 ASD
 NA
 NA
 59418509
 59524736
  106228
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case115738L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57867365
 57889244
  21880
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case129151L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57867365
 57889244
  21880
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case54259
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57632674
 57640960
  8287
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case64380L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57867365
 57889244
  21880
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case69180
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 57867365
 57889244
  21880
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case87750
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 60313757
 60334357
  20601
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11038.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
 60924776
 60979881
  55106
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 62096585
 62099683
  3099
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11141.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
 60028197
 60060917
  32721
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11199.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
 59418381
 59524489
  106109
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 59531427
 59543398
  11972
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12552.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
 59787669
 59798183
  10515
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12552.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
 59479763
 59482823
  3061
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13169.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
 59479763
 59487335
  7573
 GRCh38
 Deletion
 No
  yamamoto_14_ID/EP_discovery_cases-case5
 13 yrs.
 M
 Intellectual disability and epilepsy
 Case present in DECIPHER database (DECIPHER ID #250670). Birth/neonatal history: born at 40 weeks of gestation after uneventful pregnancy; birth weight of 3240 g (M). Developmental milestones: started to walk unsupported at 16 months of age; able to say first meaningful word at 36 months of age. Epilepsy/seizures: epileptic convulsion without fever at age of 3.5 years; second seizure attack with aphasia, ataxia, and drowsiness at age of 9 years; several epileptic episodes later; now under sodium valproate therapy. EEG: paroxysmal activity in frontal cerebral hemispheres observed at age of 3.5 years; subsequent EEG at age of 9 years showed slow paroxysmal activities in posterior-parietal-occipital areas of right hemisphere. Brain imaging: brain MRI revealed slight ventricular asymmetry. Dysmorphic features: square face, down-slanting palpebral fissures, high nasal bridge, anteverted nares, thin lips, downturned corners of mouth, strabismus. Growth parameters: within normal range; height of 147 cm (10th-25th %ile), weight of 47 kg (50th-75th %ile), and OFC of 55 cm (50th-75th %ile). Family history: father stutters since childhood and has mild intellectual disability (WAIS-R IQ score of 59).
 Mild intellectual disability; WISC-R performed at age of 13 years revealed IQ of 65
 60361023
 61014721
  653699
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case479
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 59451811
 59739685
  287875
 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-control110036022853_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60220496
  60329612
  109117
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60924776
  60980465
  55690
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
  N/A
  N/A
  Control
  No previous psychiatric history
 
  60924776
  60977248
  52473
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
  N/A
  N/A
  Control
  No previous psychiatric history
 
  62869339
  62981341
  112003
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
  N/A
  N/A
  Control
  No previous psychiatric history
 
  61463212
  61638898
  175687
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11199.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  59458626
  59521378
  62753
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11199.s1
  NA
  M
  Control
  NA
  NA
  59418509
  59524736
  106228
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11038.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  60924776
  60977248
  52473
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11199.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  59418381
  59517878
  99498
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11345.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  61910283
  61991902
  81620
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  59531427
  59543398
  11972
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12377.s1
  20.6
  F
  Control (matched sibling)
  NA
  NA
  59778203
  59803362
  25160
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12385.s1
  10.7
  F
  Control (matched sibling)
  NA
  NA
  59787669
  59803362
  15694
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  59694982
  59704168
  9187
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
 
  62724984
  62888810
  163827
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 celestino-soper_11_ASD_discovery_cases-11076
 
 
 Unknown
 Simplex
 NA
 RORA-AS1,RORA
 
 engchuan_15_ASD_discovery_cases-case4241_1
 
 
 Unknown
 
 
 
 
 krumm_15_ASD_discovery_cases-case11199.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FAM81A
 
 krumm_15_ASD_discovery_cases-case13871.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 LACTB,RPS27L,RAB8B
 
 levy_11_ASD_discovery_cases-11199.p1
 
 
 Maternal
 Simplex
 Not segregated
 FAM81A
 
 prasad_12_ASD_discovery_cases-case115738L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case129151L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case54259
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case64380L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case69180
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case87750
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11038.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RORA
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11141.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 MESTP2,FOXB1
 
 sanders_11_ASD_discovery_cases-11199.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 FAM81A
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12552.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 FAM81A
 
 sanders_11_ASD_discovery_cases-13169.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FAM81A
 
 yamamoto_14_ID/EP_discovery_cases-case5
 Microarray
 Paternal
 Paternal
 Multi-generational
 Possibly segregated
 CYCSP38,RNA5SP397,ANXA2,ICE2,RORA-AS1,RORA-AS2,RORA
 
 yin_16_ASD_discovery_cases-case479
 
 
 Unknown
 Unknown
 Unknown
 RNA5SP396,PIGHP1,GTF2A2,BNIP2,FAM81A,GCNT3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036022853_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900037_900037
 
 
  Unknown
 
 
  RORA
 
engchuan_15_ASD_discovery_controls-controlHABC_900211_900211
 
 
  Unknown
 
 
  RORA
 
engchuan_15_ASD_discovery_controls-controlHABC_900651_900651
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900761_900761
 
 
  Unknown
 
 
 
 
krumm_15_ASD_discovery_controls-control11199.s1
  Illumina 1M
 
  Maternal
 
 
  FAM81A
 
levy_11_ASD_discovery_controls-11199.s1
 
 
  Maternal
  Simplex
  NA
  FAM81A
 
sanders_11_ASD_discovery_controls-11038.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RORA
 
sanders_11_ASD_discovery_controls-11199.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FAM81A
 
sanders_11_ASD_discovery_controls-11345.s1
 
 
  Maternal
  Simplex (quad)
  NA
  VPS13C
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12377.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12385.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
 
 
  Unknown
  N/A (both twins typically developing)
 
  MIR190A,TLN2
 

No Animal Model Data Available
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