17q11.2
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
599324Range
29015932-29149664Associated Human Genes
NF1, PHF12, PSMD11, RAB11FIP4, RNF135, SLC6A4, TAOK1Associated Mouse Models
-Autism Reports
25Populations
32 (26 case / 6 control)Individuals
107 (90 case / 17 control)Summary
Summary statement in development
External Links
Reports related to 17q11.2 (25 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Minor | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 2 | Major | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... | Kaminsky EB , et al. (2011) |
| 3 | Minor | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 4 | Minor | Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. | Gannon WT , et al. (2011) |
| 5 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 6 | Major | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 7 | Minor | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 8 | Minor | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 9 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 10 | Minor | Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ , et al. (2014) |
| 11 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 12 | Minor | Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. | Moreira DP , et al. (2014) |
| 13 | Major | Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. | Dharmadhikari AV , et al. (2014) |
| 14 | Minor | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 15 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 16 | Minor | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C , et al. (2015) |
| 17 | Minor | The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. | Wenger TL , et al. (2016) |
| 18 | Major | Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. | Wolfe K , et al. (2016) |
| 19 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 20 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 21 | Minor | TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development | van Woerden GM et al. (2021) |
| 22 | Minor | Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank | Yap CX et al. (2021) |
| 23 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 24 | Major | - | Hu C et al. (2023) |
| 25 | Major | PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response | Wallid Deb et al. (2024) |
17q11.2
Description:
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
Diagnosis:
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 880
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 4524
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
PCR, array SNP
Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
17q11.2
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 25165
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
17q11.2
Description:
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.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 58569
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
17q11.2
Description:
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
Diagnosis:
Intellectual disability, developmental delay, and/or ASD
Coe BP , et al. (2014)Cohort Size: 29085
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1050000
Deletion: 7
Duplication: 7
Total CNV: 14
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
17q11.2
Description:
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
Diagnosis:
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Dharmadhikari AV , et al. (2014)Cohort Size: 4
Age Min: 50
Age Max: 50
Average: 50
Male: 100
Female: -
Unknown: -
CNV Size: 1090000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
Software: -
Algorithm: -
Geographical Ancestry: 2 cases from United States, 1 case from Germany, 1 case from France
17q11.2
Description:
Individual with a de novo 17q11.2 microdeletion from an initial cohort of 10 patients with variants affecting the PSMD11 gene
Diagnosis:
Case diagnosed with ASD at 4.5 years of age and also presented with ADHD, developmental delay, and moderate intellectual disability.
Wallid Deb et al. (2024)Cohort Size: 1
Age Min: 132
Age Max: 132
Average: 132
Male: 100
Female: -
Unknown: -
CNV Size: 50892
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
qPCR
Platform: -
Software: bedtools v.2.26.0
Algorithm: CANOES
Geographical Ancestry: -
17q11.2
Description:
Samples from the Autism Genome Project (AGP)
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Engchuan W , et al. (2015)Cohort Size: 1892
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 173971
Deletion: 1
Duplication: 5
Total CNV: 6
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
17q11.2
Description:
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
Diagnosis:
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Gannon WT , et al. (2011)Cohort Size: 187
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: NA
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Genome-wide oligo array with 44K platform
Software: -
Algorithm: -
Geographical Ancestry: Gulf Coast of Alabama, Mississippi, & Florida
17q11.2
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1180000
Deletion: 9
Duplication: 6
Total CNV: 15
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
17q11.2
Description:
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
Diagnosis:
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Gazzellone MJ , et al. (2014)Cohort Size: 104
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 203162
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese
17q11.2
Description:
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
Diagnosis:
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
Girirajan S , et al. (2013)Cohort Size: 243
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 315402
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
17q11.2
Description:
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
Diagnosis:
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
Kaminsky EB , et al. (2011)Cohort Size: 15749
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1457634
Deletion: 9
Duplication: 6
Total CNV: 15
Discovery Method:
aCGH
Validation Method:
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA
17q11.2
Description:
Patients diagnosed with ASD in the Department of Child Healthcare, Children's Hospital of Fudan University, from June 2017 to March 2019 for genetic testing.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria.
Hu C et al. (2023)Cohort Size: 160
Age Min: -
Age Max: -
Average: -
Male: 83
Female: 17
Unknown: -
CNV Size: 204722
Deletion: 6
Duplication: 0
Total CNV: 6
Discovery Method:
Targeted gene sequencing
Validation Method:
qPCR/MLPA
Platform: Panel of 568 ASD-related genes/Illumina HiSeq 2000
Software: CNVseq
Algorithm: NA
Geographical Ancestry: China
17q11.2
Description:
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
Diagnosis:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
Kanduri C , et al. (2015)Cohort Size: 80
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 31655
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish
17q11.2
Description:
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
Diagnosis:
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
Krumm N , et al. (2013)Cohort Size: 411
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 1369
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
17q11.2
Description:
Probands from the Simons Simplex Collection
Diagnosis:
Diagnosis of ASD
Krumm N , et al. (2015)Cohort Size: 2377
Age Min: -
Age Max: -
Average: -
Male: 60
Female: 20
Unknown: 20
CNV Size: 85460
Deletion: N/A
Duplication: N/A
Total CNV: 3
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A
17q11.2
Description:
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
Diagnosis:
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 3014
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 29853
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
17q11.2
Description:
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
Diagnosis:
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
Moreira DP , et al. (2014)Cohort Size: 531
Age Min: 132
Age Max: 132
Average: 132
Male: 100
Female: -
Unknown: -
CNV Size: 101000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Various Affymetrix platforms
Software: -
Algorithm: -
Geographical Ancestry: Ethnically-mixed Brazilian
17q11.2
Description:
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
Diagnosis:
Cases diagnosed with ASD
Poultney CS , et al. (2013)Cohort Size: 299
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 148346
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
17q11.2
Description:
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).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 16579
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
17q11.2
Description:
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
Diagnosis:
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)
Sanders SJ , et al. (2011)Cohort Size: 1124
Age Min: -
Age Max: -
Average: -
Male: 69
Female: 31
Unknown: -
CNV Size: 133732
Deletion: 4
Duplication: 3
Total CNV: 7
Discovery Method:
Solid phase hybridization
Validation Method:
-
Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
17q11.2
Description:
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
Diagnosis:
ASD
Wenger TL , et al. (2016)Cohort Size: 62
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 37085
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanHap 550 or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A
17q11.2
Description:
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
Diagnosis:
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Wolfe K , et al. (2016)Cohort Size: 202
Age Min: 684
Age Max: 684
Average: 684
Male: 100
Female: -
Unknown: -
CNV Size: 1213713
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
qPCR, FISH, QF-PCR
Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British
17q11.2
Description:
Individuals with an intragenic TAOK1 variant (19) or chromosomal deletion including TAOK1 (4)
Diagnosis:
Affected individuals frequently presented with developmental delay, intellectual disability, behavioral disturbances (including autism spectrum disorder), and/or seizures.
van Woerden GM et al. (2021)Cohort Size: 23
Age Min: 21
Age Max: 120
Average: 78.5
Male: 50
Female: 50
Unknown: -
CNV Size: 2000002
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
NA
Validation Method:
None
Platform: NA
Software: -
Algorithm: -
Geographical Ancestry: NA
17q11.2
Description:
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
Diagnosis:
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Yap CX et al. (2021)Cohort Size: 723
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1232368
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Global Screening Array v1 and v2
Software: GenomeStudio v.2.0.4
Algorithm: PennCNV, iPattern
Geographical Ancestry: Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
17q11.2
Description:
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
Diagnosis:
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
C Yuen RK et al. (2017)Cohort Size: 2626
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1412000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
WGS
Validation Method:
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
celestino-soper_11_ASD_discovery_cases-11348
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31216595
CNV End: 31275164
CNV Size: 58570
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OMG, NF1
coe_14_ASD/DD/ID_discovery_cases-case271
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case272
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case273
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case274
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case275
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case276
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case277
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case278
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case279
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case280
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case281
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case282
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case283
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
coe_14_ASD/DD/ID_discovery_cases-case284
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30838856
CNV End: 31888868
CNV Size: 1050013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, ADAP2, NF1, RAB11FIP4
dharmadhikari_14_ASD/ID_discovery_cases-case1
Clinical Profile:
Birth/neonatal history: maternal complications prior to delivery (placenta previa); born at term by spontaneous vaginal delivery; birth weight of 3.2 kg. Developmental milestones: sat unassisted at 5 months, began walking at 9 months. Language and communication evaluation: speech delay; very limited in number of words used. Behavioral/psychiatric evaluation: found to be anxious, hyperactive, uncooperative, aggressive, and impulsive. Sleep disturbances: sweating at night, bedwetting. Additional medical history: complains of abdominal pain and feels naseous every 2-3 weeks (no vomiting); normal pulmonary findings; has had numerous viral upper respiratory infections; hospitalized around 18 months of age for pneumonia. Dysmorphic features: broad forehead, sparse eyebrows, mildly low-set ears, nasal features with small alae, broad tip, and broad bridge, brachydactyly of fingers and toes, one cafe-au-lait macule on left flank. Family history: third child of a non-consanguineous 20-year-old mother and 22-year-old father (both reportedly in good health with no learning, speech, or lung problems).
Cognitive Profile:
-
Dharmadhikari AV , et al. (2014)Primary Diagnosis: Speech delay and behavioral problems
Age: 4 yrs. 2 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: 1090000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
engchuan_15_ASD_discovery_cases-case14210_3370
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30641132
CNV End: 30769803
CNV Size: 128672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, SMURF2P1-LRRC37BP1, CRLF3
engchuan_15_ASD_discovery_cases-case14318_2740
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30688914
CNV End: 30862885
CNV Size: 173972
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, SUZ12P1, ATAD5, CRLF3
engchuan_15_ASD_discovery_cases-case16034_1571009001
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30515520
CNV End: 30611359
CNV Size: 95840
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT17P3, GOSR1, SMURF2P1, ALOX12P1, SMURF2P1-LRRC37BP1
engchuan_15_ASD_discovery_cases-case18171_302
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30688914
CNV End: 30837005
CNV Size: 148092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, ATAD5, CRLF3
engchuan_15_ASD_discovery_cases-case2303_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29969309
CNV End: 30021029
CNV Size: 51721
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3495_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30021029
CNV End: 30059508
CNV Size: 38480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNY4P13, EFCAB5
gannon_11_ASD/DD_discovery_cases-patientS
Primary Diagnosis: ASD and/or DD
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
gazzellone_14_ASD_discovery_cases-case690-3
Clinical Profile:
ASD; no other clinical information provided
Cognitive Profile:
N/A
Gazzellone MJ , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30610633
CNV End: 30813795
CNV Size: 203163
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SH3GL1P2, LRRC37BP1, RN7SL316P, SMURF2P1, SUZ12P1, SMURF2P1-LRRC37BP1, CRLF3
girirajan_12_ASD/DD/ID_discovery_cases-case10538
Clinical Profile:
Seizure disorder, short stature, macrocephaly
Cognitive Profile:
Developmental delay
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1418
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1419
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1420
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1421
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1422
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1423
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1424
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1425
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1426
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1427
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1428
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1429
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1430
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_12_ASD/DD/ID_discovery_cases-case1431
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30768856
CNV End: 31948868
CNV Size: 1180013
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
girirajan_13b_ASD_discovery_cases-23404100705
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31907725
CNV End: 32223127
CNV Size: 315403
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP437, SH3GL1P1, WDR45BP1, ARGFXP2, LRRC37B, SUZ12, RHOT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000185
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 32099761
CNV Size: 1392898
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000600
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001788
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30767194
CNV End: 31937486
CNV Size: 1170293
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001805
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31223174
CNV End: 31246335
CNV Size: 23162
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001819
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30630734
CNV End: 32088380
CNV Size: 1457647
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001904
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706863
CNV End: 31994624
CNV Size: 1287762
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30893477
CNV End: 30993653
CNV Size: 100177
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL138P, DPRXP4, ATAD5, TEFM, RNF135, ADAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002319
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30667972
CNV End: 32023858
CNV Size: 1355887
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002533
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30672816
CNV End: 31999939
CNV Size: 1327124
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003913
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004077
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004311
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004545
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30613848
CNV End: 31875279
CNV Size: 1261432
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SH3GL1P2, LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SMURF2P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004720
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30706864
CNV End: 31999939
CNV Size: 1293076
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005422
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30650145
CNV End: 31015565
CNV Size: 365421
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, SUZ12P1, ATAD5, TEFM, RNF135, SMURF2P1-LRRC37BP1, CRLF3, ADAP2
kanduri_15_ASD_discovery_cases-case2008
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30190348
CNV End: 30222002
CNV Size: 31655
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
krumm_13_ASD_discovery_cases-case13843.p1
Clinical Profile:
ASD proband from SSC quad family 13843. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 66.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28591697
CNV End: 28593066
CNV Size: 1370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11464.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30784186
CNV End: 30804110
CNV Size: 19925
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SUZ12P1, CRLF3
krumm_15_ASD_discovery_cases-case13133.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 29676802
CNV End: 29695543
CNV Size: 18742
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABHD15-AS1, SSH2
krumm_15_ASD_discovery_cases-case14459.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: N/A
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30784186
CNV End: 30869646
CNV Size: 85461
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-298P, SUZ12P1, ATAD5, CRLF3
moreira_14_ASD/EP_discovery_cases-case9
Clinical Profile:
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: muscular atrophy of the legs. Epilepsy/seizures: yes. Dysmorphic features: none reported. Growth parameters: height of 160 cm (>97th %ile), weight of 50.5 kg (90th-95th %ile), and head circumference of 54.5 cm (75th-98th %ile).
Cognitive Profile:
-
Moreira DP , et al. (2014)Primary Diagnosis: ASD and epilepsy
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 27647231
CNV End: 27748498
CNV Size: 101268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CPDP1, LGALS9, LGALS9DP, NOS2P1
poultney_13_ASD_discovery_cases-case05HI3851A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 28042874
CNV End: 28191219
CNV Size: 148346
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RPS29P22, NLK
prasad_12_ASD_discovery_cases-case55497
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 25429686
CNV End: 25446264
CNV Size: 16579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case87042
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 26493256
CNV End: 26507432
CNV Size: 14177
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
sanders_11_ASD_discovery_cases-11033.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 30539628
CNV End: 30673001
CNV Size: 133374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: KRT17P3, SH3GL1P2, LRRC37BP1, SMURF2P1, ALOX12P1, SMURF2P1-LRRC37BP1
sanders_11_ASD_discovery_cases-11464.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 30688914
CNV End: 30822646
CNV Size: 133733
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: RN7SL316P, SUZ12P1, CRLF3
sanders_11_ASD_discovery_cases-11541.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 31181757
CNV End: 31226455
CNV Size: 44699
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11753.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12078.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 113
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 9.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 31500100
CNV End: 31500411
CNV Size: 312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12359.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28440862
CNV End: 28473228
CNV Size: 32367
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12671.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 101; non-verbal IQ, 98; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 28686450
CNV End: 28691078
CNV Size: 4629
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
wenger_16_ASD_discovery_cases-case42
Clinical Profile:
Prior clinical diagnosis of genetic syndrome: n/a
Cognitive Profile:
-
Wenger TL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 32448743
CNV End: 32485827
CNV Size: 37085
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
wolfe_16_ID_discovery_cases-DECIPHER327132
Clinical Profile:
Psychiatric history: autistic spectrum disorder (ASD), challenging behavior. Mini PAS-ADD evaluation: anxiety disorder, hypomania, obsessive compulsive disorder (OCD). BPI-S evaluation: at least weekly self-injurious behavior, aggressive/destructive behavior, and stereotyped behavior. Medical history: pacemaker in situ (long Q-T syndrome), hypothyroidism, hypercholesterolemia, cataracts. Dysmorphic features: abnormalities of the figners. Growth parameters: height 179 cm, head circumference 60 cm. Ethnicity: white (British).
Cognitive Profile:
Severe intellectual disability
Wolfe K , et al. (2016)Primary Diagnosis: Intellectual disability, ASD, and OCD
Age: 57 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30741126
CNV End: 31954837
CNV Size: 1213712
Validation Description: qPCR, FISH, or QF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
yuen_17_ASD_discovery_cases-case1-0347-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: NF1; ADHD; learning in low average range
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31142982
CNV End: 31156982
CNV Size: 14001
Validation Description: Agilent 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
yuen_17_ASD_discovery_cases-case1-0683-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 30670982
CNV End: 32082981
CNV Size: 1412000
Validation Description: Affymetrix CytoScan HD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
brandler_18_ASD_discovery_cases-caseREACH000377
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29498526
CNV End: 29503050
CNV Size: 4525
Validation Description: PCR or SNP data validation (SNP VCF)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-caseSSC07701
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29674048
CNV End: 29699212
CNV Size: 25165
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: ABHD15-AS1, SSH2
deb_24_ASD/ADHD/DD/ID_discovery_cases-case10
Clinical Profile:
Developmental milestones: mild motor delay with delayed ability to walk (18 months), moderate speech delay, toilet training after 5 years. Motor and musculoskeletal evaluation: fine motor difficulties, hyperlaxity. Behavioral/psychiatric evaluation: ASD (diagnosed at 4.5 years), ADHD, frustration intolerance, difficulties in social skills, repetitive activities, stereotypies when agitated. Additional medical history: left eye amblyopia, hypermetropia, divergent strabismus, visual dyspraxia, constipation. Dysmorphic features: thin lips, small eyes. Growth parameters: overweight (BMI 91st %ile, +1.32 SD). Family history: third of four children born to non-consanguineous parents, and other than a brother deceased in the neonatal period following preterm-birth complications and several maternal uncles with seizures, family history was negative.
Cognitive Profile:
Moderate intellectual disability
Wallid Deb et al. (2024)Primary Diagnosis: ASD, ADHD, developmental delay, and intellectual disability
Age: 11 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 32444274
CNV End: 32495165
CNV Size: 50892
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MYO1D, PSMD11, CDK5R1
hu_23_ASD_discovery_cases-case12
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31337582
CNV Size: 181601
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: EVI2A, EVI2B, OMG, NF1
hu_23_ASD_discovery_cases-case13
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31360703
CNV Size: 204722
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: AK4P1, EVI2A, EVI2B, OMG, NF1
hu_23_ASD_discovery_cases-case3
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31360703
CNV Size: 204722
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: AK4P1, EVI2A, EVI2B, OMG, NF1
hu_23_ASD_discovery_cases-case4
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31360703
CNV Size: 204722
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: AK4P1, EVI2A, EVI2B, OMG, NF1
hu_23_ASD_discovery_cases-case7
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31330498
CNV Size: 174517
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: EVI2A, EVI2B, OMG, NF1
hu_23_ASD_discovery_cases-case8
Clinical Profile:
Case clinically diagnosed with ASD according to DSM-V criteria.
Cognitive Profile:
-
Hu C et al. (2023)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31155982
CNV End: 31338805
CNV Size: 182824
Validation Description: qPCR/MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: EVI2A, EVI2B, OMG, NF1
kushima_22_SCZ_discovery_cases-caseSCZ0955
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28902417
CNV End: 28932269
CNV Size: 29853
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHF12, DHRS13
van_Woerden_21_ASD/DD/ID_discovery_cases-case18
Clinical Profile:
Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: seizures. Growth parameters: macrocephaly (head circumference +3.5 SD).
Cognitive Profile:
Intellectual disability
van Woerden GM et al. (2021)Primary Diagnosis: Intellectual disability and seizures
Age: 10 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29521973
CNV End: 29522781
CNV Size: 809
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
van_Woerden_21_ASD/DD/ID_discovery_cases-case21
Clinical Profile:
Birth/neonatal history: postterm pregnancy (42 weeks); neonatal feeding difficulties (gastroesophageal reflux and swallowing difficulties). Motor and musculoskeletal evaluation: hypotonia, joint hypermobility. Brain imaging: Chiari I malformation, mildly dilated lateral ventricles, dilated third ventricle. Additional medical history: abdominal pain, recurrent ear infections, recurrent airway infections.
Cognitive Profile:
Intellectual disability
van Woerden GM et al. (2021)Primary Diagnosis: Intellectual disability
Age: 7 yrs 7 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28752981
CNV End: 30752982
CNV Size: 2000002
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALOX12P1, BLMH, FLOT2, CPD, CRYBA1, ERAL1, GIT1, PIPOX, FAM222B, TAOK1, NUFIP2, PHF12, NSRP1, TP53I13, CORO6, SSH2, ABHD15, ANKRD13B, SEZ6, LRRC37BP1, DHRS13, EFCAB5, TMIGD1, MYO18A, MIR144, SUZ12P1, MIR423, TWF1P1, MIR451A, KRT17P3, RPL9P30, RPL21P123, RPL35AP35, RPL31P58, RNY4P13, MIR3184, MIR4732, MIR4523, MIR451B, ABHD15-AS1, RN7SL316P, SH3GL1P2, SLC6A4, RNU4-34P, RNU6-711P, RNU6-990P, RNU6-1034P, RNU6-920P, RNU6-1267P, SMURF2P1, GOSR1, TIAF1, TBC1D29P
van_Woerden_21_ASD/DD/ID_discovery_cases-case22
Clinical Profile:
Birth/neonatal history: pregnancy complicated by hypertension; delivery by caesarean section due to failure to progress. Motor and musculoskeletal evaluation: central hypotonia with peripheral hypertonia. Behavioral/psychiatric evaluation: autism. Additional medical history: strabismus, constipation, atrial septal defect, ventricular septal defect, recurrent airway infections. Family history: patient's mother had a history of cognitive impairment.
Cognitive Profile:
-
van Woerden GM et al. (2021)Primary Diagnosis: ASD
Age: 6 yrs. 10 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 29343419
CNV End: 29607269
CNV Size: 263851
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GIT1, TAOK1, TP53I13, ABHD15, ANKRD13B, MIR4523, ABHD15-AS1, RNU4-34P, RNU6-711P, RNU6-1034P
van_Woerden_21_ASD/DD/ID_discovery_cases-case23
Clinical Profile:
Developmental milestones: developmental delay, delayed ability to sit (10 months), delayed ability to walk (walking with support at 21 months). Motor and musculoskeletal evaluation: short fifth fingers bilaterally. Dysmorphic features: flat facial profile, dolichocephaly, hypertelorism, short philtrum, flat nasal bridge, low-set and posteriorly rotated ears. Growth parameters: decreased body weight (-3 SD), microcephaly (head circumference -3 SD) (patient 23 in this report). Note: this patient had previously been reported in Xie et al., 2016 (PMID 27247625).
Cognitive Profile:
-
van Woerden GM et al. (2021)Primary Diagnosis: Developmental delay
Age: 1 yr. 9 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28737267
CNV End: 30434829
CNV Size: 1697563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: BLMH, FLOT2, CPD, CRYBA1, ERAL1, GIT1, PIPOX, FAM222B, TAOK1, NUFIP2, PHF12, NSRP1, TP53I13, CORO6, SSH2, ABHD15, ANKRD13B, SEZ6, DHRS13, NEK8, EFCAB5, TMIGD1, MYO18A, MIR144, MIR423, TWF1P1, MIR451A, RPL9P30, RPL21P123, RPL35AP35, RPL31P58, RNY4P13, MIR3184, MIR4732, MIR4523, MIR451B, ABHD15-AS1, SLC6A4, RNU4-34P, RNU6-711P, RNU6-990P, RNU6-1034P, RNU6-920P, RNU6-1267P, TRAF4, TIAF1
yap_21_ASD_discovery_cases-case1101637
Clinical Profile:
Medicated for sleep, anxiety, ADHD; short for age (140 cm at 12 years of age)
Cognitive Profile:
WISC 10th %ile
Yap CX et al. (2021)Primary Diagnosis: ASD and ADHD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30784349
CNV End: 32016716
CNV Size: 1232368
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: AK4P1, EVI2A, EVI2B, CRLF3, COPRS, ADAP2, UTP6, TEFM, ATAD5, RAB11FIP4, RNF135, LRRC37B, MIR193A, SUZ12P1, DPRXP4, MIR365B, NF1, OMG, GPR160P2, MIR4733, MIR4724, MIR4725, RNA5SP437, RNU6-1134P, RNU6ATAC7P, RN7SL79P, RNU6-298P, RN7SL138P, RN7SL45P, SUZ12
No control populations reported.
engchuan_15_ASD_discovery_controls-controlB393761_1007852612
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30455972
CNV End: 30588332
CNV Size: 132361
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KRT17P3, GOSR1, ALOX12P1, SMURF2P1-LRRC37BP1, CPD
engchuan_15_ASD_discovery_controls-controlB476506_1007852940
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28560110
CNV End: 28599826
CNV Size: 39717
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PIGS, SPAG5, SPAG5-AS1, ALDOC
engchuan_15_ASD_discovery_controls-controlHABC_902479_902479
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28954962
CNV End: 29017412
CNV Size: 62451
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PIPOX, SEZ6
krumm_13_ASD_discovery_controls-control11484.s1
Clinical Profile:
Unaffected sibling from SSC quad family 11484. SRS score of 43.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 30984616
CNV End: 30997331
CNV Size: 12716
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_controls-control13843.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13843. SRS score of 42.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 28591697
CNV End: 28593066
CNV Size: 1370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control11484.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30984616
CNV End: 30999191
CNV Size: 14576
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control12299.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30984616
CNV End: 30999191
CNV Size: 14576
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
levy_11_ASD_discovery_controls-11258.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31362460
CNV End: 31399261
CNV Size: 36802
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NF1, RAB11FIP4
poultney_13_ASD_discovery_controls-control05C39104A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 27645859
CNV End: 27648984
CNV Size: 3126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_controls-control05C42882
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30984615
CNV End: 30999193
CNV Size: 14579
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11033.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 30539628
CNV End: 30588332
CNV Size: 48705
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: KRT17P3, ALOX12P1, SMURF2P1-LRRC37BP1
sanders_11_ASD_discovery_controls-11258.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 31362412
CNV End: 31397690
CNV Size: 35279
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: NF1, RAB11FIP4
sanders_11_ASD_discovery_controls-11330.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11484.s1
Primary Diagnosis: Control (matched sibling)
Age: 14.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 30974590
CNV End: 30992938
CNV Size: 18349
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: DPRXP4, RNF135
sanders_11_ASD_discovery_controls-11753.s1
Primary Diagnosis: Control (matched sibling)
Age: 15.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29981722
CNV Size: 6441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12096.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 29975282
CNV End: 29979751
CNV Size: 4470
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
kushima_18_ASD/SCZ_discovery_controls-controlCON1782
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 29 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 30636641
CNV End: 32067548
CNV Size: 1430908
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LRRC37BP1, RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, SMURF2P1-LRRC37BP1, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
Genes associated with 17q11.2(0 Models)
Sort By:
| NF1 | 18 / 43 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional |
Score1 |
| PHF12 | 4 / 5 | Rare Single Gene Mutation |
Score1 |
| PSMD11 | 2 / 3 | Rare Single Gene Mutation, Syndromic |
Score1 |
| RAB11FIP4 | 2 / 3 | Rare Single Gene Mutation, Genetic Association |
Score3 |
| RNF135 | 3 / 5 | Rare Single Gene Mutation, Syndromic, Genetic Association |
Score2 |
| SLC6A4 | 18 / 31 | Rare Single Gene Mutation, Genetic Association, Functional |
Score2 |
| TAOK1 | 8 / 13 | Rare Single Gene Mutation, Syndromic, Functional |
Score1 |