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4q34.1CNV Type: Deletion-Duplication


Largest CNV size: 1629441 bp

Statistics Box:
Number of Reports: 10



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 219000
 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
 71879
 3
 1
 4
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 108621
 4
 0
 4
 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
 1719536
 1
 0
 1
 lionel_13_SCZ_discovery_cases
 Schizophrenia patients studied by the International Schizophrenia Consortium (previously described in Nature, 2008).
 3391
 Schizophrenia
 NA
 NA
 26274
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 1629441
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 30974
 1
 0
 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
 7911
 1
 0
 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
 30567
 6
 0
 6
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected 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
 Diagnoses based on DSM-5 criteria 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 an
 N/A
 N/A
 229006
 1
 0
 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
 118653
 5
 0
 5
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 349981
 0
 1
 1
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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.
 
 29092
 1
 0
 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)
 7911
 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.
 
 377486
 6
 2
 8
 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
 229006
 1
 0
 1

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 lionel_13_SCZ_discovery_cases
  NA
 Array SNP
  Affymetrix 6.0
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 
 
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 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
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_296516
  NA NA
 N/A
 M
 Cognitive impairment
 
 Cognitive impairment
 174020125
 174239210
  219086
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case20041_1248001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 172221443
 172287040
  65598
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4429_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 171292319
 171322357
  30039
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5135_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 171915788
 171946761
  30974
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6014_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 171627553
 171699432
  71880
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1097301
 
 
 Autism
 
 
 175200788
 175309408
  108621
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1097302
 
 
 Autism
 
 
 175200788
 175309408
  108621
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1573301
 
 
 Autism
 
 
 172641670
 172724194
  82525
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1791303
 
 
 Autism
 
 
 173158832
 173263440
  104609
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004715
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 172101363
 173820899
  1719537
 GRCh38
 Deletion
 Yes
  lionel_13_SCZ_discovery_cases-proband6
 26 yrs.
 M
 Schizophrenia
 Proband recruited into International Schizophrenia Consortium (ISC) study at 26 years of age (previously reported in a Nature 2008 paper). Developmental milestones: normal early milestones. Behavioral/psychiatric evaluation: first onset of psychiatric symptoms started at age of 21 years with behavioral changes; examined by psychiatrist at age of 22 years after reportigng that he heard voices laughing at him and people looking at him; proband believed that he was being poisoned; subsequently treated with long-acting injectable antipsychotic medication for three years prior to recruitment into ISC study; proband remained in chronic condition, with similar delusions, anhedonia (loss of interest in pleasurbale activities), and severe lethargy. Family history: unaffected mother; maternal grandmother reported to have had schizophrenia (DNA not available for testing).
 
 171915352
 171941626
  26275
 GRCh38
 Deletion
 No
  marshall_08_ASD_discovery_cases-SK0012-003
 NA
 M
 ASD
 NA
 NA
 172028735
 173658175
  1629441
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5135_3
 NA
 M
 ASD
 NA
 NA
 171915788
 171946761
  30974
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case72934
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 175888780
 175896690
  7911
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11193.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
 173634378
 173664945
  30568
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11723.p1
 6.9
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
 171588011
 171595534
  7524
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11859.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
 171226746
 171227168
  423
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 171588512
 171595534
  7023
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12240.p1
 8.9
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
 171588736
 171599593
  10858
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12339.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
 171915788
 171937461
  21674
 GRCh38
 Deletion
 No
  stamouli_18_ASD/NDD_discovery_cases-family1_Twin_1
  NA NA
 N/A
 N/A
 ASD/NDD
 Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
 
 171407607
 171636612
  229006
 GRCh38
 Deletion
 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-control110036011559_r
  N/A
  N/A
  Control
  No previous psychiatric history
 
  171285664
  171322357
  36694
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-control110036014728_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  171458718
  171577371
  118654
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB444410_1007852611
  N/A
  N/A
  Control
  No previous psychiatric history
 
  171292319
  171322357
  30039
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902591_902591
  N/A
  N/A
  Control
  No previous psychiatric history
 
  171482425
  171575775
  93351
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
  N/A
  N/A
  Control
  No previous psychiatric history
 
  173485591
  173562970
  77380
  GRCh38
  Deletion
  No
  levy_11_ASD_discovery_controls-11948.s1
  NA
  M
  Control
  NA
  NA
  172808438
  173158418
  349981
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C26931
 
 
  Control
 
 
  173069990
  173099081
  29092
  Unknown
  Deletion
 
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  173634378
  173664945
  30568
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11491.s1
  8.7
  M
  Control (matched sibling)
  NA
  NA
  171627553
  171699432
  71880
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  173308611
  173330271
  21661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  172818093
  173154875
  336783
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12096.s1
  9.7
  M
  Control (matched sibling)
  NA
  NA
  171603374
  171980860
  377487
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  175361459
  175411389
  49931
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12227.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  171385904
  171442863
  56960
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  171915788
  171937461
  21674
  GRCh38
  Deletion
  No
  stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
  N/A
  N/A
  Control
  Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
 
  171407607
  171636612
  229006
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_296516
 
 
 De novo
 
 
 FBXO8,LINC02268
 
 engchuan_15_ASD_discovery_cases-case20041_1248001
 
 
 Unknown
 
 
 GALNTL6
 
 engchuan_15_ASD_discovery_cases-case4429_1
 
 
 Unknown
 
 
 LINC02504
 
 engchuan_15_ASD_discovery_cases-case5135_3
 
 
 Unknown
 
 
 GALNTL6
 
 engchuan_15_ASD_discovery_cases-case6014_3
 
 
 Unknown
 
 
 LINC02174
 
 gai_11_ASD_discovery_cases-AU1097301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1097302
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1573301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_discovery_cases-AU1791303
 
 
 Inherited
 
 
 GALNTL6 (intronic)
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004715
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SL253P,MIR548T,HMGB2,RPL5P11,RNU6-1096P,HAND2,MORF4,RANP6,SAP30,SCRG1,GALNT7,HAND2-AS1,GALNTL6
 
 lionel_13_SCZ_discovery_cases-proband6
 
 
 Unknown
 Simplex
 Unknown
 GALNTL6
 
 marshall_08_ASD_discovery_cases-SK0012-003
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 RN7SL253P,MIR548T,HMGB2,RPL5P11,RNU6-1096P,HAND2,MORF4,RANP6,SAP30,SCRG1,GALNT7,HAND2-AS1,GALNTL6
 
 pinto_10_ASD_discovery_cases-case5135_3
 Agilent1M
 
 paternal
 NA
 NA
 GALNTL6
 
 prasad_12_ASD_discovery_cases-case72934
 
 
 Unknown
 Unknown
 Unknown
 GLRA3
 
 sanders_11_ASD_discovery_cases-11193.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 HAND2-AS1
 
 sanders_11_ASD_discovery_cases-11723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11859.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12240.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12339.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GALNTL6
 
 stamouli_18_ASD/NDD_discovery_cases-family1_Twin_1
 
 
 Unknown
 Simplex
 Not segregated (CNV also present in unaffected twin)
 LINC02174
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036011559_r
 
 
  Unknown
 
 
  LINC02504
 
engchuan_15_ASD_discovery_controls-control110036014728_
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB444410_1007852611
 
 
  Unknown
 
 
  LINC02504
 
engchuan_15_ASD_discovery_controls-controlHABC_902591_902591
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902646_902646
 
 
  Unknown
 
 
  HAND2,HAND2-AS1
 
levy_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex
  NA
  RN7SL253P,GALNTL6
 
nord_11_ASD_discovery_controls-04C26931
 
 
 
 
 
  GALNTL6
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Maternal
  Simplex (quad)
  NA
  HAND2-AS1
 
sanders_11_ASD_discovery_controls-11491.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02174
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Unknown
  Simplex (quad)
  NA
  GALNT7
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RN7SL253P,GALNTL6
 
sanders_11_ASD_discovery_controls-12096.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02174,GALNTL6
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12227.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GALNTL6
 
stamouli_18_ASD/NDD_discovery_controls-family1_Twin_2
 
 
  Unknown
  Simplex
 
  LINC02174
 

No Animal Model Data Available
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