Copy Number Variants / 17p11.2

17p11.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
899555
Range
16532736-20464365
Associated Human Genes
RAI1, RASD1
Associated Animal Models
M_Df(11)17_3_HT, M_Dp(11)17_1_HT, M_Dp(11)17_1_HT_EE, M_Dp(11)17_2_HT
Autism Reports
42
Populations
49 (43 case / 6 control)
Individuals
300 (228 case / 72 control)
Summary

Deletions and duplication in this region are typically associated with Smith-Magenis and Potocki-Lupski syndromes, respectively. Both syndromes are characterized by behavioral problems, intellectual disability, and speech delay; however, autistic features have also been observed in patients with Potocki-Lupski syndrome.

Reports related to 17p11.2 (42 Reports)
# Type Title Author, Year
1 Major Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. Nakamine A , et al. (2007)
2 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
3 Minor Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Ching MS , et al. (2010)
4 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
5 Major Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. Schaefer GB , et al. (2010)
6 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
7 Major Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Bremer A , et al. (2011)
8 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)
9 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
10 Minor Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Chung BH , et al. (2011)
11 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)
12 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)
13 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
14 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
15 Minor Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Leblond CS , et al. (2012)
16 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
17 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
18 Major Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epile... Cabras V , et al. (2012)
19 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
20 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
21 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
22 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
23 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
24 Minor Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Stobbe G , et al. (2013)
25 Minor Identification of candidate intergenic risk loci in autism spectrum disorder. Walker S and Scherer SW (2013)
26 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
27 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
28 Minor Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
29 Major Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Pham J , et al. (2014)
30 Major Etiological yield of SNP microarrays in idiopathic intellectual disability. Utine GE , et al. (2014)
31 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
32 Minor Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , et al. (2014)
33 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
34 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
35 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
36 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
37 Major Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Yuan B , et al. (2015)
38 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
39 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
40 Minor Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. Sansovi I , et al. (2017)
41 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
42 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
Show all Case Details Show all Cohort Details

17p11.2

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 33
Age Max: 64
Average: 45.25

Male: 50
Female: 50
Unknown: -
CNV Size: 3600000

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy

17p11.2

Description:

Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013

Diagnosis:

Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype

Al-Qattan SM , et al. (2014)
Cohort Size: 584

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 6200000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia

17p11.2

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: 67
Female: 33
Unknown: -
CNV Size: 1277

Deletion: 2
Duplication: 0

Total CNV: 2
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

17p11.2

Description:

223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden

Diagnosis:

25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR

Bremer A , et al. (2011)
Cohort Size: 223

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 3750000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

MLPA, FISH

Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish

17p11.2

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: 106241

Deletion: 2
Duplication: 0

Total CNV: 2
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: -

17p11.2

Description:

Patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism, and/or epilepsy

Diagnosis:

ASD, mental retardation (MR), and/or epilepsy (EP)

Cabras V , et al. (2012)
Cohort Size: 10

Age Min: 60
Age Max: 192
Average: 126

Male: 100
Female: -
Unknown: -
CNV Size: 130000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH (Cytochips Bluegnome)
Software: Bluefuse Cytochip software
Algorithm: -
Geographical Ancestry: European

17p11.2

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: 67
Female: 33
Unknown: -
CNV Size: 151

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

17p11.2

Description:

Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009

Diagnosis:

Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations

Ching MS , et al. (2010)
Cohort Size: 3540

Age Min: 96
Age Max: 96
Average: 96

Male: 100
Female: -
Unknown: -
CNV Size: 295000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K
Software: Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -

17p11.2

Description:

Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)

Diagnosis:

ASD (ADI-R and ADOS, Module 3)

Chung BH , et al. (2011)
Cohort Size: 1

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 106273

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.2.1, Birdseed v.2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian

17p11.2

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: 2932259

Deletion: 10
Duplication: 23

Total CNV: 33
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

17p11.2

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

Girirajan S , et al. (2011)
Cohort Size: 336

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 14
Unknown: 43
CNV Size: 260212

Deletion: 3
Duplication: 2

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

17p11.2

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: 1510000

Deletion: 31
Duplication: 25

Total CNV: 56
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -

17p11.2

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: 48
Age Max: 48
Average: 48

Male: 80
Female: 20
Unknown: -
CNV Size: 91925

Deletion: 3
Duplication: 2

Total CNV: 5
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese

17p11.2

Description:

Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

Diagnosis:

Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

Griswold AJ , et al. (2012)
Cohort Size: 813

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2932259

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)

17p11.2

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: 87948

Deletion: 2
Duplication: 1

Total CNV: 3
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

17p11.2

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 48
Age Max: 120
Average: 72

Male: -
Female: 100
Unknown: -
CNV Size: 178073

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian

17p11.2

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: 4560578

Deletion: 16
Duplication: 17

Total CNV: 33
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

17p11.2

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: 50
Female: 50
Unknown: -
CNV Size: 30292

Deletion: 0
Duplication: 1

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

17p11.2

Description:

Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.

Diagnosis:

1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.

Leblond CS , et al. (2012)
Cohort Size: 2

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 34588

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M SNP array
Software: -
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: 1 Canadian, 1 French

17p11.2

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: 75
Female: 25
Unknown: -
CNV Size: 99592

Deletion: 0
Duplication: 4

Total CNV: 4
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

17p11.2

Description:

Individuals predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.

Kushima I , et al. (2018)
Cohort Size: 1108

Age Min: 240
Age Max: 588
Average: 414

Male: 100
Female: -
Unknown: -
CNV Size: 3815009

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

17p11.2

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 157535

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

17p11.2

Description:

Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.

Diagnosis:

ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.

Lionel AC , et al. (2013)
Cohort Size: 5384

Age Min: 156
Age Max: 156
Average: 156

Male: -
Female: 100
Unknown: -
CNV Size: 109830

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA

17p11.2

Description:

Autistic male proband ascertained during the course of a genetic study of autism in the Central Valley of Costa Rica

Diagnosis:

Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2.

Nakamine A , et al. (2007)
Cohort Size: 1

Age Min: 123
Age Max: 123
Average: 123

Male: 100
Female: -
Unknown: -
CNV Size: 3354900

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR, microsatellite analysis

Platform: Affymetrix 500K (NspI and StyI)
Software: dChip 2006
Algorithm: HMM
Geographical Ancestry: Costa Rican

17p11.2

Description:

Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.

Diagnosis:

ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

Morrow EM , et al. (2008)
Cohort Size: 94

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 413000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan

17p11.2

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 220092

Deletion: 1
Duplication: 3

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European

17p11.2

Description:

Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.

Diagnosis:

Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)

Pham J , et al. (2014)
Cohort Size: 10362

Age Min: 48
Age Max: 48
Average: 48

Male: 100
Female: -
Unknown: -
CNV Size: 918000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, chromosome analysis

Platform: BCM V8 OLIGO array
Software: -
Algorithm: -
Geographical Ancestry: N/A

17p11.2

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: 86
Female: 14
Unknown: -
CNV Size: 624578

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

17p11.2

Description:

ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)

Diagnosis:

Cases classified according to ADOS and ADI-R

Pinto D , et al. (2014)
Cohort Size: 1359

Age Min: 180
Age Max: 180
Average: 180

Male: 50
Female: 50
Unknown: -
CNV Size: 2932260

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

17p11.2

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: 67
Female: 33
Unknown: -
CNV Size: 226890

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

17p11.2

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3432802

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -

17p11.2

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 48
Age Max: 48
Average: 48

Male: 100
Female: -
Unknown: -
CNV Size: 3562106

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain

17p11.2

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

Sajan SA , et al. (2013)
Cohort Size: 487

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 164485

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None (not tested or failure to confirm by qPCR)

Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian

17p11.2

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: 61
Female: 39
Unknown: -
CNV Size: 174060

Deletion: 25
Duplication: 5

Total CNV: 30
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&

17p11.2

Description:

Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska

Diagnosis:

Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.

Schaefer GB , et al. (2010)
Cohort Size: 68

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: NA

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
Software: GenePix Pro 6.0, SpectralWare CGH analysis software
Algorithm: -
Geographical Ancestry: -

17p11.2

Description:

Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine

Diagnosis:

Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features

Sansovi I , et al. (2017)
Cohort Size: 337

Age Min: 96
Age Max: 96
Average: 96

Male: 100
Female: -
Unknown: -
CNV Size: 3656000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia

17p11.2

Description:

Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012

Diagnosis:

Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.

Stobbe G , et al. (2013)
Cohort Size: 36

Age Min: 264
Age Max: 264
Average: 264

Male: -
Female: 100
Unknown: -
CNV Size: 3390000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-3v1.0
Software: NimbleScan 2.5, DNA Analytics 4.0
Algorithm: ADM-1
Geographical Ancestry: N/A

17p11.2

Description:

Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada

Diagnosis:

Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments

Tammimies K , et al. (2015)
Cohort Size: 258

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 3583211

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada

17p11.2

Description:

Discovery cohort of Canadian individuals with ASD

Diagnosis:

ASD

Vaags AK , et al. (2012)
Cohort Size: 1158

Age Min: 199
Age Max: 199
Average: 199

Male: 100
Female: -
Unknown: -
CNV Size: 109830

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Software: -
Algorithm: -
Geographical Ancestry: Canadian

17p11.2

Description:

Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports

Diagnosis:

Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.

Walker S and Scherer SW (2013)
Cohort Size: 1491

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 174184

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

None

Platform: Illumina 1M, Affymetrix 6.0
Software: QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: N/A

17p11.2

Description:

Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)

Diagnosis:

Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).

Utine GE , et al. (2014)
Cohort Size: 100

Age Min: 132
Age Max: 132
Average: 132

Male: 100
Female: -
Unknown: -
CNV Size: 3000000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

FISH

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.0
Algorithm: -
Geographical Ancestry: Turkey

17p11.2

Description:

Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1

Diagnosis:

Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.

Yuan B , et al. (2015)
Cohort Size: 23

Age Min: 11
Age Max: 11
Average: 11

Male: 100
Female: -
Unknown: -
CNV Size: 507637

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH, long-range PCR

Platform: Agilent 4x180K, 8x60K arrays
Software: -
Algorithm: -
Geographical Ancestry: N/A

17p11.2

Description:

Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.

Diagnosis:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).

Yin CL , et al. (2016)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 297620

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Case Details Show all Cohort Details

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case14DG0263

Clinical Profile:

Developmental delay and epilepsy with classical dysmorphic features (Smith-Magenis Syndrome). Non-consanguineous parents.

Cognitive Profile:

Developmental delay

Al-Qattan SM , et al. (2014)
Primary Diagnosis: Developmental delay and epilepsy

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16868950
CNV End: 20401654
CNV Size: 3532705
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

battaglia_13_DD/ID/ASD_discovery_cases-case10

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Moderate DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16699846
CNV End: 20289856
CNV Size: 3590011
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

battaglia_13_DD/ID/ASD_discovery_cases-case11

Clinical Profile:

Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes. Karyotype: 47, XYY.

Cognitive Profile:

Mild-moderate DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: PDD-NOS and developmental delay/intellectual disability

Age: 5 yrs. 4 mos.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Possible multi-generational
CNV Start: 14208455
CNV End: 15538752
CNV Size: 1330298
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: CDRT15, MGC12916, RPS18P12, RPL23AP76, CDRT7, MIR4731, RNU6-799P, RN7SL792P, RPL9P2, PPIAP53, HS3ST3B1, LINC02096, CDRT8, PMP22, TVP23C, COX10, TEKT3, CDRT4, TVP23C-CDRT4

battaglia_13_DD/ID/ASD_discovery_cases-case12

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Mild DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 2 yrs. 9 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16919369
CNV End: 20289856
CNV Size: 3370488
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

battaglia_13_DD/ID/ASD_discovery_cases-case51

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Mild DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16699816
CNV End: 20289856
CNV Size: 3590041
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

brandler_18_ASD_discovery_cases-caseMT_48.3

Clinical Profile:

Case from REACH cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 16227377
CNV End: 16228654
CNV Size: 1278
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_discovery_cases-caseSSC04497

Clinical Profile:

Case from SSC cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18118994
CNV End: 18119153
CNV Size: 160
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-caseAU2137304

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 17783461
CNV End: 17783611
CNV Size: 151
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

bremer_11_ASD_discovery_cases-case8

Clinical Profile:

Non-syndromic ASD, sporadic case

Cognitive Profile:

MR (IQ<70)

Bremer A , et al. (2011)
Primary Diagnosis: ASD

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 16629422
CNV End: 20561052
CNV Size: 3931631
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, ZNF624, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10, CCDC144A

cabras_12_ASD/MR/EP_discovery_cases-case4

Clinical Profile:

Autism, epilepsy (epileptic encephalopathy). Case enclsoed in DECIPHER database (patient n.256853).

Cognitive Profile:

Profound mental retardation

Cabras V , et al. (2012)
Primary Diagnosis: Autism and mental retardation

Age: 16 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19614001
CNV End: 19748680
CNV Size: 130000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SLC47A2, ALDH3A1, ULK2

cabras_12_ASD/MR/EP_discovery_cases-case5

Clinical Profile:

Autism, epilepsy (epileptic encephalopathy). Case enclsoed in DECIPHER database (patient n.256873).

Cognitive Profile:

Profound mental retardation

Cabras V , et al. (2012)
Primary Diagnosis: Autism and mental retardation

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19614001
CNV End: 19748680
CNV Size: 130000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: SLC47A2, ALDH3A1, ULK2

celestino-soper_11_ASD_discovery_cases-11076

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18476781
CNV End: 18583022
CNV Size: 106242
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SRP68P2, NOS2P2, FAM106A, USP32P2, LGALS9C, CCDC144B

celestino-soper_11_ASD_discovery_cases-11399

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 17042881
CNV End: 17043088
CNV Size: 208
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case11

Clinical Profile:

Proximal & distal weakness, hypotonia. Chest-right mild Poland anomaly. Eczema. Family history: mother with history of joint hypermobility, osteoarthritis, mitral valave prolapse, severe migraines, & severe breast asymmetry (mother was source of 2p16.3 deletion, 15q26.3 duplication, and 17p11.2 duplication).

Cognitive Profile:

Normal

Ching MS , et al. (2010)
Primary Diagnosis: Other

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21303770
CNV End: 21598663
CNV Size: 294894
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, MAP2K3, KCNJ12, C17orf51

chung_11_ASD_discovery_cases-proband

Clinical Profile:

Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.

Cognitive Profile:

WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)

Chung BH , et al. (2011)
Primary Diagnosis: ASD

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18455623
CNV End: 18561895
CNV Size: 106273
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TNPO1P2, SRP68P2, KRT16P4, NOS2P2, FAM106A, USP32P2, LGALS9C, CCDC144B

engchuan_15_ASD_discovery_cases-case1157_5

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: 21460266
CNV End: 21629571
CNV Size: 169306
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case1258_4

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: 21332746
CNV End: 22756949
CNV Size: 1424204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ18, FTLP13, FAM27E5, MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13, KCNJ12, NCOR1P2, LINC02002, C17orf51, UBBP4, FLJ36000

engchuan_15_ASD_discovery_cases-case13061_713

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: 21460266
CNV End: 21608308
CNV Size: 148043
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case14012_220

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: 19691527
CNV End: 19833196
CNV Size: 141670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLC47A2, ALDH3A1, ULK2

engchuan_15_ASD_discovery_cases-case14106_1860

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: 22159206
CNV End: 22354841
CNV Size: 195636
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FTLP13, FAM27E5, LINC02002, UBBP4

engchuan_15_ASD_discovery_cases-case14144_2420

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: 21415359
CNV End: 21624795
CNV Size: 209437
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

engchuan_15_ASD_discovery_cases-case14186_3050

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: 20529444
CNV End: 20696184
CNV Size: 166741
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, TBC1D3P3, LINC02088

engchuan_15_ASD_discovery_cases-case14207_3330

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: 21460266
CNV End: 21624795
CNV Size: 164530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case14208_3350

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: 21480206
CNV End: 21654390
CNV Size: 174184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case14288_4090

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: 21449101
CNV End: 21624795
CNV Size: 175695
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case14290_4110

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: 18884905
CNV End: 18973283
CNV Size: 88379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM83G, SLC5A10, PRPSAP2

engchuan_15_ASD_discovery_cases-case14300_4210

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: 19556224
CNV End: 19719330
CNV Size: 163107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P1, SLC47A1P2, SLC47A2, SLC47A1, ALDH3A2

engchuan_15_ASD_discovery_cases-case14373_4860

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: 21454285
CNV End: 21624795
CNV Size: 170511
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case18174_301

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: 21449101
CNV End: 21601624
CNV Size: 152524
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case2211_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: 17325219
CNV End: 20257612
CNV Size: 2932394
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

engchuan_15_ASD_discovery_cases-case3019_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: 21449101
CNV End: 22292412
CNV Size: 843312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, KCNJ18, FTLP13, NCOR1P2, LINC02002, C17orf51, UBBP4

engchuan_15_ASD_discovery_cases-case3418_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: 21460266
CNV End: 21650206
CNV Size: 189941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case3439_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: 17312268
CNV End: 18418940
CNV Size: 1106673
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

engchuan_15_ASD_discovery_cases-case3455_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: 19042022
CNV End: 19181489
CNV Size: 139468
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, GRAP, KYNUP1, GRAPL

engchuan_15_ASD_discovery_cases-case3510_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: 22177812
CNV End: 22743468
CNV Size: 565657
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FTLP13, FAM27E5, MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13, LINC02002, UBBP4, FLJ36000

engchuan_15_ASD_discovery_cases-case3517_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: 20037834
CNV End: 20088493
CNV Size: 50660
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3567_4

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: 21305074
CNV End: 21624795
CNV Size: 319722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, MAP2K3, KCNJ12, C17orf51

engchuan_15_ASD_discovery_cases-case4227_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: 16495241
CNV End: 16834458
CNV Size: 339218
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, ZNF287, USP32P1, ZNF624, CCDC144A

engchuan_15_ASD_discovery_cases-case4227_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: 20427818
CNV End: 21001771
CNV Size: 573954
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, RNFT1P3, HNRNPA1P19, OLA1P2, SCDP1, RNU6-1178P, RNASEH1P1, SPECC1P2, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, LINC02088, USP22, NOS2P3, ABHD17AP6, CCDC144NL, CCDC144NL-AS1

engchuan_15_ASD_discovery_cases-case4232_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: 21452168
CNV End: 22296891
CNV Size: 844723
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case4251_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: 21271558
CNV End: 21634390
CNV Size: 362832
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5047_4

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: 21428062
CNV End: 21608308
CNV Size: 180247
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case5241_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: 21427653
CNV End: 21647828
CNV Size: 220176
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case5271_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: 18921239
CNV End: 19059330
CNV Size: 138092
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM83G, GRAP, SLC5A10, PRPSAP2

engchuan_15_ASD_discovery_cases-case5285_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: 21416161
CNV End: 21608308
CNV Size: 192148
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

engchuan_15_ASD_discovery_cases-case5304_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: 21427653
CNV End: 21593333
CNV Size: 165681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

engchuan_15_ASD_discovery_cases-case6185_5

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: 18771339
CNV End: 18973283
CNV Size: 201945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL627P, FBXW10, TVP23B, FAM83G, SLC5A10, PRPSAP2

engchuan_15_ASD_discovery_cases-case6284_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: 21427653
CNV End: 21608308
CNV Size: 180656
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

gazzellone_14_ASD_discovery_cases-case489-3

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: 18789225
CNV End: 18823076
CNV Size: 33852
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

gazzellone_14_ASD_discovery_cases-case532-3

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: 17541289
CNV End: 17572904
CNV Size: 31616
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

gazzellone_14_ASD_discovery_cases-case625-3

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: 20898522
CNV End: 20990447
CNV Size: 91926
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNASEH1P1, SPECC1P2, CCDC144NL-AS1

gazzellone_14_ASD_discovery_cases-case631-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19617741
CNV End: 19660453
CNV Size: 42713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLC47A1P2, ALDH3A2

gazzellone_14_ASD_discovery_cases-case694-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18659407
CNV End: 18687502
CNV Size: 28096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FOXO3B, UBE2SP2, TBC1D28, ZNF286B

girirajan_11_ASD_discovery_cases-Si192

Clinical Profile:

ADOS score: 6. Vineland composite score: 85.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21411676
CNV End: 21608549
CNV Size: 196874
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

girirajan_11_ASD_discovery_cases-Si197

Clinical Profile:

ADOS score: 9. Vineland composite score: 57.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 35; Non-verbal IQ, 34.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21445161
CNV End: 21601332
CNV Size: 156172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

girirajan_11_ASD_discovery_cases-Si254

Clinical Profile:

ADOS score: 6. Vineland composite score: 54.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 27; Non-verbal IQ, 34.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21344311
CNV End: 21604569
CNV Size: 260259
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

girirajan_11_ASD_discovery_cases-Si52

Clinical Profile:

ADOS score: 9. Vineland composite score: 74.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 72; Verbal IQ, 76; Non-verbal IQ, 75.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 19915727
CNV End: 19970195
CNV Size: 54469
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case1362

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1363

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1364

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1365

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1366

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1367

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1368

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1369

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1370

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1371

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1372

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1373

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1374

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1375

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1376

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1377

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1378

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1379

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1380

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1381

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1382

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1383

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1384

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1385

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1386

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1387

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1388

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1389

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1390

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1391

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1392

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1393

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1394

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1395

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1396

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1397

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1398

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1399

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1400

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1401

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1402

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1403

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1404

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1405

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1406

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1407

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1408

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1409

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1410

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1411

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1412

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1413

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1414

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1415

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1416

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_12_ASD/DD/ID_discovery_cases-case1417

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16885961
CNV End: 18395961
CNV Size: 1510001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

girirajan_13b_ASD_discovery_cases-15008109638

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: 22287058
CNV End: 22375006
CNV Size: 87949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_13b_ASD_discovery_cases-6503100309

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: 19593349
CNV End: 19632984
CNV Size: 39636
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P1, SLC47A1P2

girirajan_13b_ASD_discovery_cases-8905102822

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: 20076602
CNV End: 20093877
CNV Size: 17276
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

griswold_12_ASD_discovery_cases-case3586

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 17325219
CNV End: 20257612
CNV Size: 2932394
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

iourov_12_ASD/ID/EP_discovery_cases-case26

Clinical Profile:

Speech delay, microcephaly, epicanthic fold, broad nasal bridge, hypertelorism, syndactyly, clinodactyly, protruding ears

Cognitive Profile:

Developmental delay/intellectual disability

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18296768
CNV End: 18474841
CNV Size: 178074
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, SHMT1

iourov_12_ASD/ID/EP_discovery_cases-case50

Clinical Profile:

Autism, Rett syndrome-like phenotype

Cognitive Profile:

Developmental delay/intellectual disability

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability and autism

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18960487
CNV End: 19118589
CNV Size: 158103
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, FAM83G, GRAP, SLC5A10

iourov_12_ASD/ID/EP_discovery_cases-case8

Clinical Profile:

Facial dysmorphisms, single transverse palmar crease, pectus excavatum, seizures, short neck

Cognitive Profile:

Developmental delay/intellectual disability

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18960487
CNV End: 19118589
CNV Size: 158103
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, FAM83G, GRAP, SLC5A10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000200

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: 16879232
CNV End: 20390725
CNV Size: 3511494
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000810

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: 16879232
CNV End: 20390725
CNV Size: 3511494
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000881

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: 16879232
CNV End: 18970941
CNV Size: 2091710
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, SREBF1, PRPSAP2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000915

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: 16879232
CNV End: 20390725
CNV Size: 3511494
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001147

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: 20935766
CNV End: 21628103
CNV Size: 692338
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: SPECC1P2, RN7SL426P, EIF1P5, PDLIM1P2, RPL21P120, USP22, LINC01563, DHRS7B, TMEM11, NATD1, MAP2K3, KCNJ12, C17orf51, CCDC144NL-AS1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001592

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: 16713515
CNV End: 20340442
CNV Size: 3626928
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: UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001724

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: 17667721
CNV End: 18301995
CNV Size: 634275
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: SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, RAI1, TOM1L2, DRG2, SREBF1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001739

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: 16713514
CNV End: 20582527
CNV Size: 3869014
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: UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001785

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: 18828089
CNV End: 20467764
CNV Size: 1639676
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: RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001853

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: 16817557
CNV End: 18362819
CNV Size: 1545263
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: KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001874

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: 16760817
CNV End: 20429770
CNV Size: 3668954
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: SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002108

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: 20879426
CNV End: 22533437
CNV Size: 1654012
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: RNU6-1178P, RNASEH1P1, SPECC1P2, RN7SL426P, EIF1P5, PDLIM1P2, RPL21P120, KCNJ18, FTLP13, FAM27E5, MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13, USP22, LINC01563, DHRS7B, TMEM11, NATD1, MAP2K3, KCNJ12, NCOR1P2, LINC02002, CCDC144NL, C17orf51, UBBP4, FLJ36000, CCDC144NL-AS1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002178

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: 16692462
CNV End: 20390725
CNV Size: 3698264
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: RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002342

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: 16836827
CNV End: 20340442
CNV Size: 3503616
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: KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002444

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: 16117885
CNV End: 18362819
CNV Size: 2244935
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: RNU6-862P, RN7SL442P, MIR1288, UBB, FTLP12, SNORD49B, SNORD49A, SNORD65, NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, CENPV, TRPV2, LRRC75A, ZNF287, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, NCOR1, PIGL, ZNF624, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002477

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: 16836827
CNV End: 20504849
CNV Size: 3668023
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: KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002518

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: 16760818
CNV End: 20390725
CNV Size: 3629908
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: SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003951

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: 16361086
CNV End: 18219405
CNV Size: 1858320
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: UBB, FTLP12, SNORD49B, SNORD49A, SNORD65, NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, TRPV2, LRRC75A, ZNF287, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, ZNF624, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SREBF1, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004041

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: 16760818
CNV End: 20504849
CNV Size: 3744032
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: SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004135

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: 20935766
CNV End: 21628103
CNV Size: 692338
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: SPECC1P2, RN7SL426P, EIF1P5, PDLIM1P2, RPL21P120, USP22, LINC01563, DHRS7B, TMEM11, NATD1, MAP2K3, KCNJ12, C17orf51, CCDC144NL-AS1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004143

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: 19070690
CNV End: 21619442
CNV Size: 2548753
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: KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, RNFT1P3, HNRNPA1P19, OLA1P2, SCDP1, RNU6-1178P, RNASEH1P1, SPECC1P2, RN7SL426P, EIF1P5, PDLIM1P2, RPL21P120, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, LINC02088, USP22, LINC01563, DHRS7B, TMEM11, NATD1, MAP2K3, KCNJ12, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, ABHD17AP6, CCDC144NL, C17orf51, AKAP10, CCDC144NL-AS1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004146

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: 17726750
CNV End: 17797183
CNV Size: 70434
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: SMCR5, RAI1-AS1, RAI1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004236

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: 16656168
CNV End: 20390725
CNV Size: 3734558
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: NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004370

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: 16858444
CNV End: 20340442
CNV Size: 3481999
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004399

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: 16836827
CNV End: 20465067
CNV Size: 3628241
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: KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004415

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: 16879232
CNV End: 20390725
CNV Size: 3511494
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004420

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: 16858444
CNV End: 20465067
CNV Size: 3606624
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004563

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: 16060129
CNV End: 20620841
CNV Size: 4560713
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: RPL22P21, RNU6-314P, RNU6-862P, RN7SL442P, MIR1288, UBB, FTLP12, SNORD49B, SNORD49A, SNORD65, NEK4P2, RNASEH1P2, RNU6-405P, RN7SL620P, UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, CENPV, TRPV2, LRRC75A, ZNF287, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, LINC02088, NCOR1, PIGL, ZNF624, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10, CCDC144A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004637

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: 16858444
CNV End: 20465067
CNV Size: 3606624
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004662

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: 17150076
CNV End: 18415759
CNV Size: 1265684
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: RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004729

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: 16919369
CNV End: 20289856
CNV Size: 3370488
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005269

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: 16879232
CNV End: 20390725
CNV Size: 3511494
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: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005392

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: 19239860
CNV End: 21530183
CNV Size: 2290324
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: MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, RNFT1P3, HNRNPA1P19, OLA1P2, SCDP1, RNU6-1178P, RNASEH1P1, SPECC1P2, RN7SL426P, EIF1P5, PDLIM1P2, RPL21P120, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, LINC02088, USP22, LINC01563, DHRS7B, TMEM11, NATD1, MAP2K3, KCNJ12, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, ABHD17AP6, CCDC144NL, C17orf51, AKAP10, CCDC144NL-AS1

krumm_13_ASD_discovery_cases-case12579.p1

Clinical Profile:

ASD proband from SSC quad family 12579. SRS score of 90.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 33.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 16417668
CNV End: 16447960
CNV Size: 30293
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SNORD49B, SNORD49A, SNORD65, TRPV2, LRRC75A

krumm_15_ASD_discovery_cases-case11216.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: 16281701
CNV End: 16381293
CNV Size: 99593
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR1288, UBB, CENPV, PIGL

krumm_15_ASD_discovery_cases-case11909.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: 18923913
CNV End: 18988414
CNV Size: 64502
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FAM83G, SLC5A10, PRPSAP2

krumm_15_ASD_discovery_cases-case12579.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: 16420114
CNV End: 16447960
CNV Size: 27847
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SNORD49B, SNORD49A, SNORD65, TRPV2, LRRC75A

krumm_15_ASD_discovery_cases-case14493.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: 19738322
CNV End: 19745129
CNV Size: 6808
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

leblond_12_ASD_replication_cases-Pintocase5237_3

Clinical Profile:

Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.

Cognitive Profile:

Below average non-verbal IQ (<1st %ile)

Leblond CS , et al. (2012)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

levy_11_ASD_discovery_cases-11216.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 16230356
CNV End: 16387890
CNV Size: 157535
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR1288, UBB, CENPV, PIGL

lionel_13_ASD/SCZ/EP_discovery_cases-proband1

Clinical Profile:

Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.

Cognitive Profile:

Completed secondary school degree with exception of mathematics

Lionel AC , et al. (2013)
Primary Diagnosis: ASD

Age: 13 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18452078
CNV End: 18561907
CNV Size: 109830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TNPO1P2, SRP68P2, KRT16P4, NOS2P2, FAM106A, USP32P2, LGALS9C, CCDC144B

morrow_08_ASD_discovery_cases-case7101

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21657000
CNV End: 22070000
CNV Size: 413000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

nakamine_08_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2. ADI-R evaluation: qualitative impairment of reciprocal social interaction score, 29; impairment of communication score, 21; repetitive behaviors & stereotyped patterns score, 6; abnormal development evident before 36 months score, 5. ADOS module 2 evaluation: communication total score, 7; social total score, 11; communication + social score, 18; imagination/creativity score, 2; restricted interests/repetitive behavior score, 3 (classification of autism). Birth/neonatal history: pregnancy complicated by urinary tract infection in 1st trimester, premature ruptures of membranes at 5 months, hyperemesis throughout pregnancy; delivered at full term by spontaneous vaginal delivery without reported complications; Apgar scores 8-8; exhibition of hypotonia, weak suction, and deglution problems at birth; height, weight, and head circumference within normal limits. Developmental milestones: delayed acquisition of motor skills before 6 months of age; held head up at 2 months, displayed social smile at 3 months, independently sat at 9 months, crawled at 12 months, stood up at 14 months, walked at 24 months, ran at 30 months; spoke first words shortly before 26 months, emergence of phrase speech at 84 months; attained vesicourethral sphincter control at 60 months of age, no fecal sphincter control. Motor skills/musculoskeletal characteristics: delayed acquisition of motor skills; problems with equilibrium and balance; motor clumsiness; slight muscular hypotonia; no gait ataxia; Behavioral characteristics: autistic behaviors (hand flapping, immediate and delayed echolalia, use of other persons' bodies to communicate intentions), constant smiling, passive, exhibits little social interest, not aggressive, no self-injurious behaviors, no attention deficits or hyperactivity. Vineland Adaptive Behavioral Scales: communication skills score, 32; daily living skills score, <20; social skills score, 49; adaptive behavior composite score, 31. Sleep disturbances: none. Epilepsy/seizures: none. EEG: normal. Other health concerns: inguinal hernia repaired at 6 yrs. 9 mos., continuing sinus problems. Dysmorphic features: narrow palpebral fissures, protruding ears, somewhat long fingers, bilateral palmar transverse creases; malocclusion with mild protrusion of superior maxilla, multiple dental caries. Growth parameters: height, 133 cm (6th %ile); weight, 27 kg (4th %ile). Family history: mother had difficulties with language acquisition and problems with stuttering; three healthy siblings; two maternal first cousins with unspecified learning problems.

Cognitive Profile:

Letier full-scale IQ score of 36

Nakamine A , et al. (2007)
Primary Diagnosis: Autism

Age: 10 yrs. 3 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 16962961
CNV End: 20317995
CNV Size: 3355035
Validation Description: qPCR, microsatellite analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo, paternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

pham_14_ASD/DD/EP/ID_discovery_cases-case47

Clinical Profile:

Indication for study: seizures and developmental delay

Cognitive Profile:

-

Pham J , et al. (2014)
Primary Diagnosis: Developmental delay and epilepsy

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18099443
CNV End: 19017784
CNV Size: 918342
Validation Description: FISH and/or chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, PRPSAP2

pinto_10_ASD_discovery_cases-case1157_5

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21460266
CNV End: 21629571
CNV Size: 169306
Validation Description: Illumina550;Affy5.0
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

pinto_10_ASD_discovery_cases-case5047_4

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21428062
CNV End: 21608308
CNV Size: 180247
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

pinto_10_ASD_discovery_cases-case5241_3

Clinical Profile:

Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation

Cognitive Profile:

Low nonverbal IQ (9%ile)

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 21427653
CNV End: 21647828
CNV Size: 220176
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

pinto_10_ASD_discovery_cases-case5304_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 21427653
CNV End: 21593333
CNV Size: 165681
Validation Description: Agilent1M-Paternal
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

pinto_14_ASD_discovery_cases2-case2211_1

Clinical Profile:

Autism (meets ADI-R and ADOS criteria), language delay (first words 60 mo, first phrases 72 mo), verbal, developmental delay, self-injurious behavior, hoards all types of things including food, impulsive, obsessive, head circumference +2 SD, slightly dysplastic ears, flattened nasal bridge, short hands with slightly tapered fingers, renal cyst; no mention of sleep disturbance in records. Family history: both parents and two siblings are unaffected.

Cognitive Profile:

Vineland Adaptive Behavior Composite score 38 (at 15 y)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: 15 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 17325219
CNV End: 20257612
CNV Size: 2932394
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

pinto_14_ASD_discovery_cases2-case3439_3

Clinical Profile:

Atypical autism. Head circumference 50th %ile; some mild dysmorphic features, including cupped ears; broad, prominent forehead; frontal hair upsweep (as his mother); mildly deep-set eyes, mild lax ligaments, hypotonic face, with drooling. Normal neurological exam, no epilepsy. Constipation (as in his mother) has been a concern. Family history: both parents and sister are unaffected.

Cognitive Profile:

Mild ID (WAIS: VIQ 60, PIQ 64, FSIQ 57)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 17312268
CNV End: 18418940
CNV Size: 1106673
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, PEMT, RAI1, TOM1L2, DRG2, SHMT1, SREBF1

poultney_13_ASD_discovery_cases-case04HI3392A

Clinical Profile:

ASD case from AGRE (AGRE ID AU0231302; NDAR ID NDAR_INVYZ127JHH)

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: 19738219
CNV End: 19741212
CNV Size: 2994
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -

poultney_13_ASD_discovery_cases-case05HI3937A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1493301; NDAR ID NDAR_INVCJ982EF0)

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: 18143868
CNV End: 18208398
CNV Size: 64531
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MYO15A, ALKBH5

poultney_13_ASD_discovery_cases-case98HI0266B

Clinical Profile:

ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)

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: 18641276
CNV End: 18805569
CNV Size: 164294
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: FOXO3B, UBE2SP2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B

poultney_13_ASD_discovery_cases-case99HI0757B

Clinical Profile:

ASD case from AGRE (AGRE ID AU019604; NDAR ID NDAR_INVNG873GRA)

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: 21298411
CNV End: 22299694
CNV Size: 1001284
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ18, FTLP13, FAM27E5, MAP2K3, KCNJ12, NCOR1P2, LINC02002, C17orf51, UBBP4

prasad_12_ASD_discovery_cases-case100564

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: 16512256
CNV End: 16698489
CNV Size: 186234
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: LOC162632, CCDC144A, FAM106CP, KRT16P2

prasad_12_ASD_discovery_cases-case149485L

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: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18814721
CNV End: 18869272
CNV Size: 54552
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: GRAP, SLC5A10, FAM83G

prasad_12_ASD_discovery_cases-case88519

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: 20373248
CNV End: 20600137
CNV Size: 226890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

quintela_17_DD/ID_discovery_cases-caseID_126

Clinical Profile:

Additional clinical information N/A

Cognitive Profile:

Mild intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 16858500
CNV End: 20420606
CNV Size: 3562107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

rosenfeld_10_ASD_discovery_cases-case22006

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16718833
CNV End: 20151635
CNV Size: 3432802
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: TNFRSF13B, MPRIP, PLD6, FLCN, COPS3, NT5M, SMCR9, MED9, RASD1, PEMT, RAI1, SREBF1, TOM1L2, LRRC48, ATPAF2, C17orf39, DRG2, MYO15A, ALKBH5, LLGL1, FLII, SMCR7, TOP3A, SMCR8, SHMT1, EVPLL, LGALS9C, TBC1D28, ZNF286B, TRIM16L, FBXW10, FAM18B1, PRPSAP2, SLC5A10, FAM83G, GRAP, GRAPL, EPN2, B9D1, MAPK7, MFAP4, RNF112, SLC47A1, ALDH3A2, SLC47A2, ALDH3A1, ULK2, AKAP10, SPECC1

rosenfeld_10_ASD_discovery_cases-case22826

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 20753347
CNV End: 21191540
CNV Size: 438193
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: USP22, DHRS7B, TMEM11, C17orf103, MAP2K3

rosenfeld_10_ASD_discovery_cases-case4291

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 17338141
CNV End: 17798015
CNV Size: 459874
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: RASD1, PEMT, RAI1, SREBF1, TOM1L2

sajan_13_ACC/CBLH/PMG_discovery_cases-case1426-0

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.

Cognitive Profile:

Developmental delay: no. Intellectual disability: no.

Sajan SA , et al. (2013)
Primary Diagnosis: ACC-CBLH

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21460266
CNV End: 21624795
CNV Size: 164530
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

sajan_13_ACC/CBLH/PMG_discovery_cases-case1630-0

Clinical Profile:

Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.

Cognitive Profile:

Developmental delay: unknown. Intellectual disability: unknown.

Sajan SA , et al. (2013)
Primary Diagnosis: ACC

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19042022
CNV End: 19162511
CNV Size: 120490
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, GRAP, GRAPL

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-191

Clinical Profile:

Diagnosis of cerebellar hypoplasia (CBLH).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: CBLH

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21427653
CNV End: 21586824
CNV Size: 159172
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-093

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 19042022
CNV End: 19173664
CNV Size: 131643
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, GRAP, KYNUP1, GRAPL

sanders_11_ASD_discovery_cases-11045.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.3

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20094704
CNV Size: 14327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11049.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20340602
CNV End: 20514662
CNV Size: 174061
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, CCDC144CP, USP32P3, LGALS9B, KRT17P6, NOS2P3

sanders_11_ASD_discovery_cases-11056.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 18721918
CNV End: 18753318
CNV Size: 31401
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TRIM16L, FBXW10

sanders_11_ASD_discovery_cases-11197.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11216.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 77; non-verbal IQ, 97; verbal IQ, 57

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 4.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 16229730
CNV End: 16398447
CNV Size: 168718
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MIR1288, UBB, FTLP12, CENPV, PIGL

sanders_11_ASD_discovery_cases-11284.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 8.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11346.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11410.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20094704
CNV Size: 14327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11424.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 97; verbal IQ, 90

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 18659219
CNV End: 18676396
CNV Size: 17178
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: FOXO3B, TBC1D28, ZNF286B

sanders_11_ASD_discovery_cases-11558.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 89

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11568.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13.5

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11578.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 5.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20094704
CNV Size: 14327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11696.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 13.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-11722.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20095064
CNV Size: 14687
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11810.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-12036.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-12103.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband unmatched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12114.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 16.7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-12154.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12170.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 77

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 7.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 16807526
CNV End: 16820990
CNV Size: 13465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NOS2P4, KRT16P6

sanders_11_ASD_discovery_cases-12378.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19599570
CNV End: 19634157
CNV Size: 34588
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, SLC47A1P2

sanders_11_ASD_discovery_cases-12434.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 117; non-verbal IQ, 121; verbal IQ, 106

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12579.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 16415618
CNV End: 16454085
CNV Size: 38468
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: SNORD49B, SNORD49A, SNORD65, TRPV2, LRRC75A

sanders_11_ASD_discovery_cases-12637.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96

Sanders SJ , et al. (2011)
Primary Diagnosis: ASD

Age: 7.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20094704
CNV Size: 14327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-12638.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 16807526
CNV End: 16820990
CNV Size: 13465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: NOS2P4, KRT16P6

sanders_11_ASD_discovery_cases-13015.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13183.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 19606768
CNV End: 19634157
CNV Size: 27390
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-13187.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 84; non-verbal IQ, 83; verbal IQ, 86

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 9.5

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 20080378
CNV End: 20094704
CNV Size: 14327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sansovic_17_DD/ID/ASD_discovery_cases-case32

Clinical Profile:

Developmental delay/intellectual disability, ASD, Congenital anomalies, Dysmorphism

Cognitive Profile:

-

Sansovi I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability and ASD

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 16734588
CNV End: 20390725
CNV Size: 3656138
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: UPF3AP1, SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A

schaefer_10_ASD_discovery_cases-case3

Clinical Profile:

Complex (syndromic) autism. Arachnodactyly, deep set eyes, prominent forehead. Brain MRI: mucous retention cyst in posterior aspect of left maxillary sinus. Normal heart by echocardiogram.

Cognitive Profile:

-

Schaefer GB , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

stobbe_13_ASD_discovery_cases-case25

Clinical Profile:

Submucous cleft palate, bruxism, strabismus, brachycephaly, flat midface, brachydactyly. Negative family history. Karyotype and Fragile X testing: not performed.

Cognitive Profile:

Intellectual disability

Stobbe G , et al. (2013)
Primary Diagnosis: PDD/NOS and intellectual disability

Age: 22 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (possible simplex)
CNV Start: 16911602
CNV End: 20303288
CNV Size: 3391687
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (possible simplex)
Genome Build: GRCh38
Gene Content: LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10

tammimies_15_ASD_discovery_cases-case3-0477-000

Clinical Profile:

Dysmorphic features: macrocephaly, prominent forehead, brachycephaly, short philtrum, abnormal ears, thick superior helix, webbed toes.

Cognitive Profile:

Normal intelligence (IQ of 84)

Tammimies K , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 16853818
CNV End: 20437029
CNV Size: 3583212
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10

utine_14_DD/ID/ASD_discovery_cases-case5

Clinical Profile:

Referred at 7.5 years after diagnosis of mood disorder. Birth/neonatal history: normal prenatal and postnatal history. Developmental milestones: walked and talked at 3 years of age; no toilet training. Language and communication evaluation: improvement in language, could recognize letters, but could not read or calculate, and 11 years of age. Behavioral/psychiatric evaluation: autism/autistic features; echolalia, stereotypies, aggressive and self-injurious behavior; temper tantrums subsided during follow-up. Epilepsy/seizures: no. Brain imaging: N/A. Dysmorphic features: wide face with midfacial hypoplasia and widely spaced teeth. Growth parameters: normal. Family history: born to healthy non-consanguineous parents.

Cognitive Profile:

Moderate DD/ID (main area of delay/disability: global)

Utine GE , et al. (2014)
Primary Diagnosis: Developmental delay and autism/autistic features

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: 3000000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: Multiple genes, including RAI1

vaags_11_ASD_discovery_cases-probandF1-003

Clinical Profile:

Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).

Cognitive Profile:

Leiter-R IQ: 119 (92nd %ile)

Vaags AK , et al. (2012)
Primary Diagnosis: Asperger syndrome

Age: 16 yrs. 7 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18452078
CNV End: 18561907
CNV Size: 109830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TNPO1P2, SRP68P2, KRT16P4, NOS2P2, FAM106A, USP32P2, LGALS9C, CCDC144B

walker_13_ASD_discovery_cases-case8-14186-3050

Clinical Profile:

N/A

Cognitive Profile:

N/A

Walker S and Scherer SW (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20529444
CNV End: 20696184
CNV Size: 166741
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, TBC1D3P3, LINC02088

walker_13_ASD_discovery_cases-case8-14208-3350

Clinical Profile:

N/A

Cognitive Profile:

N/A

Walker S and Scherer SW (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 21480206
CNV End: 21654390
CNV Size: 174184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: -

yin_16_ASD_discovery_cases-case514

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18592980
CNV End: 18890600
CNV Size: 297621
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FOXO3B, UBE2SP2, RN7SL627P, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, CCDC144B, PRPSAP2

yin_16_ASD_discovery_cases-case515

Clinical Profile:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.

Cognitive Profile:

-

Yin CL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 21444625
CNV End: 21620893
CNV Size: 176269
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

yuan_15_DD_discovery_cases-caseBAB2337

Clinical Profile:

Infancy: failure to thrive, infantile hypotonia; feeding difficulties not reported. Development: developmental delay; age at walking, behavioral difficulties, and language delay not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: bilateral talipes equinovarus; facial dysmorphism, unusual gait/dropped foot, distal extremity weakness/atrophy, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: bicuspid aortic valve; MRI brain abnormalities, syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (deletion1-normal-copy segment-duplication1-normal-copy segment-deletion2-normal-copy segment-duplication2-triplication1-duplication2-triplication2-duplication2).

Cognitive Profile:

-

Yuan B , et al. (2015)
Primary Diagnosis: Developmental delay

Age: 11 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 17185426
CNV End: 17693062
CNV Size: 507637
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, MPRIP, PEMT, RAI1

kushima_18_ASD_discovery_cases-caseASD0839

Clinical Profile:

Developmental milestones: motor delay. Behavioral/psychiatric evaluation: OCD. Congenital and developmental phenotypes: neonatal asphyxia. Family history: negative.

Cognitive Profile:

Severe intellectual disability

Kushima I , et al. (2018)
Primary Diagnosis: ASD, OCD, ID

Age: 20 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 16770855
CNV End: 20585863
CNV Size: 3815009
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: Simplex
Genome Build: GRCh38
Gene Content: SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, LINC01984, TNPO1P3, YWHAEP3, KRT16P5, KRT16P3, KRT17P7, COTL1P2, CDRT15L2, ZSWIM5P2, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, LGALS9B, KRT17P6, TBC1D3P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, NOS2P3, SREBF1, PRPSAP2, AKAP10, CCDC144A

kushima_18_ASD_discovery_cases-caseASD0948

Clinical Profile:

Developmental milestones: language delay, motor delay. Congenital and developmental phenotypes: low birth weight. Family history: negative.

Cognitive Profile:

Intellectual disability (IQ < 70)

Kushima I , et al. (2018)
Primary Diagnosis: ASD, ID

Age: 49 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 16770855
CNV End: 20422847
CNV Size: 3651993
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: Simplex
Genome Build: GRCh38
Gene Content: SRP68P1, NOS2P4, KRT16P6, KRT16P2, KRT17P4, COTL1P1, LINC02090, MPRIP-AS1, RNU6-767P, RN7SL775P, ACTG1P24, TSEN15P1, RASD1, RNU6-468P, SMCR2, SMCR5, MIR6777, MIR33B, MIEF2, RPL7AP65, RPL21P121, MIR6778, LINC02076, KRT17P5, YWHAEP2, KRT17P2, KRT16P1, TNPO1P2, SRP68P2, FOXO3B, UBE2SP2, RN7SL627P, SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, MIR1180, MFAP4, LINC02094, RPS2P46, SNORA59B, MTND1P14, NMTRQ-TTG12-1, MTND2P12, MTCO1P39, NDUFB4P3, KCTD9P1, RNU6-258P, RNU6-1057P, RNU6-467P, UPF3AP2, SRP68P3, USP32P1, KRT17P1, TBC1D27P, TNFRSF13B, PLD6, FLCN, COPS3, NT5M, RPL13P12, MED9, RAI1-AS1, DRC3, ATPAF2, GID4, MYO15A, ALKBH5, LLGL1, FLII, TOP3A, SMCR8, EVPLL, TBC1D3P4, KRT16P4, NOS2P2, FAM106A, USP32P2, TBC1D28, ZNF286B, TRIM16L, FBXW10, TVP23B, FAM83G, GRAP, KYNUP1, EPN2-AS1, B9D1, MAPK7, RNF112, RPL17P43, SLC47A1P1, SLC47A1P2, SLC47A2, ALDH3A1, CCDC144CP, USP32P3, MPRIP, PEMT, RAI1, TOM1L2, DRG2, SHMT1, LGALS9C, CCDC144B, SLC5A10, GRAPL, EPN2, SLC47A1, ALDH3A2, ULK2, SPECC1, SREBF1, PRPSAP2, AKAP10, CCDC144A
Show all Control Details Show all Cohort Details

17p11.2

Description:

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)

Diagnosis:

Controls; subjects had no previous psychiatric history

Engchuan W , et al. (2015)
Cohort Size: 2342

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 728235

Deletion: 7
Duplication: 15

Total CNV: 22
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

17p11.2

Description:

Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.

Diagnosis:

Control. Individuals screened specifically for eight mental health disorders.

Girirajan S , et al. (2011)
Cohort Size: 337

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 14
Unknown: 43
CNV Size: 331490

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

17p11.2

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1510000

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Software: -
Algorithm: -
Geographical Ancestry: -

17p11.2

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3511360

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA

17p11.2

Description:

Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)

Diagnosis:

Control

Griswold AJ , et al. (2012)
Cohort Size: 592

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2932259

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Caucasian

17p11.2

Description:

Controls 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 (242 initial controls)

Diagnosis:

Control

Girirajan S , et al. (2013)
Cohort Size: 223

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 58628

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

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: 116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American

17p11.2

Description:

Unaffected siblings of ASD 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:

Control (unaffected siblings of ASD probands). 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: 50
Female: 50
Unknown: -
CNV Size: 26463

Deletion: 0
Duplication: 1

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

17p11.2

Description:

Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control

Diagnosis:

Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV

Kanduri C , et al. (2015)
Cohort Size: 269

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 202659

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium HD Human610-Quad BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

17p11.2

Description:

Unaffected siblings from quad families from the Simons Simplex Collection

Diagnosis:

Control

Krumm N , et al. (2015)
Cohort Size: 1786

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 216075

Deletion: 0
Duplication: 4

Total CNV: 4
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

17p11.2

Description:

Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.

Kushima I , et al. (2018)
Cohort Size: 2095

Age Min: 240
Age Max: 588
Average: 414

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

17p11.2

Description:

Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

Control

Levy D , et al. (2011)
Cohort Size: 863

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

17p11.2

Description:

Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)

Diagnosis:

Control

Poultney CS , et al. (2013)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 86
Female: 14
Unknown: -
CNV Size: 30199

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

17p11.2

Description:

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.

Diagnosis:

Control

Prasad A , et al. (2013)
Cohort Size: 5139

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 226890

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: NA

17p11.2

Description:

Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

Controls (no diagnosis or indication of ASD)

Veenstra DL , et al. (2010)
Cohort Size: 21219

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: -
CNV Size: -

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -

17p11.2

Description:

Matched siblings of autistic probands from the Simons Simplex Collection (SSC).

Diagnosis:

Controls

Sanders SJ , et al. (2011)
Cohort Size: 872

Age Min: -
Age Max: -
Average: -

Male: 61
Female: 39
Unknown: -
CNV Size: 181522

Deletion: 30
Duplication: 6

Total CNV: 36
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1 or Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: -

17p11.2

Description:

Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)

Diagnosis:

Control

Walker S and Scherer SW (2013)
Cohort Size: 3644

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 174184

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

None

Platform: Illumina 1M, Affymetrix 6.0
Software: QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: N/A

17p11.2

Description:

Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan

Diagnosis:

Controls

Yin CL , et al. (2016)
Cohort Size: 1093

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 297620

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Control Details Show all Cohort Details

engchuan_15_ASD_discovery_controls-control110036018794_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21460266
CNV End: 21650206
CNV Size: 189941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-control110036021624_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21650206
CNV Size: 201106
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-control110036022010_

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21427653
CNV End: 21650206
CNV Size: 222554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlB182205_0057061577

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18850557
CNV End: 18969208
CNV Size: 118652
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FAM83G, SLC5A10, PRPSAP2

engchuan_15_ASD_discovery_controls-controlB488132_1007853404

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21350449
CNV End: 21650206
CNV Size: 299758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

engchuan_15_ASD_discovery_controls-controlB494938_1007853807

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21593333
CNV Size: 144233
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlB503964_1007875238

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21624795
CNV Size: 175695
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlB626857_1007872217

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21624795
CNV Size: 175695
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlB701848_1007876021

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20923726
CNV End: 21011322
CNV Size: 87597
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPECC1P2, USP22, CCDC144NL-AS1

engchuan_15_ASD_discovery_controls-controlB986059_1007872554

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20862967
CNV End: 20940244
CNV Size: 77278
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1178P, RNASEH1P1, CCDC144NL, CCDC144NL-AS1

engchuan_15_ASD_discovery_controls-controlHABC_900129_900129

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20862967
CNV End: 20940244
CNV Size: 77278
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-1178P, RNASEH1P1, CCDC144NL, CCDC144NL-AS1

engchuan_15_ASD_discovery_controls-controlHABC_900161_900161

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19024233
CNV End: 19149018
CNV Size: 124786
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, GRAP, GRAPL

engchuan_15_ASD_discovery_controls-controlHABC_900400_900400

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19042022
CNV End: 19222205
CNV Size: 180184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, SNORD3A, SNORD3C, KYNUP3, GRAP, KYNUP1, GRAPL, EPN2

engchuan_15_ASD_discovery_controls-controlHABC_900498_900498

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21427653
CNV End: 21650206
CNV Size: 222554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlHABC_900904_900904

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21608308
CNV End: 22756949
CNV Size: 1148642
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KCNJ18, FTLP13, FAM27E5, MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13, NCOR1P2, LINC02002, UBBP4, FLJ36000

engchuan_15_ASD_discovery_controls-controlHABC_900937_900937

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21636358
CNV End: 22754503
CNV Size: 1118146
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: KCNJ18, FTLP13, FAM27E5, MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13, NCOR1P2, LINC02002, UBBP4, FLJ36000

engchuan_15_ASD_discovery_controls-controlHABC_900968_900968

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 20529444
CNV End: 20696184
CNV Size: 166741
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COTL1P2, CDRT15L2, ZSWIM5P2, MEIS3P2, TBC1D3P3, LINC02088

engchuan_15_ASD_discovery_controls-controlHABC_901059_901059

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21460266
CNV End: 21650206
CNV Size: 189941
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlHABC_902530_902530

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18963814
CNV End: 19155826
CNV Size: 192013
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD3B-1, SNORD3B-2, KYNUP2, SNORD3D, FAM83G, GRAP, SLC5A10, GRAPL

engchuan_15_ASD_discovery_controls-controlHABC_902576_902576

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21629571
CNV Size: 180471
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

engchuan_15_ASD_discovery_controls-controlHABC_902643_903006

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 17407572
CNV End: 17444681
CNV Size: 37110
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_controls-controlHABC_902824_902824

Clinical Profile:

No previous psychiatric history

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21449101
CNV End: 21636358
CNV Size: 187258
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL21P120, C17orf51

girirajan_11_ASD_discovery_controls-NIMH_130

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22430876
CNV End: 22762368
CNV Size: 331493
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13

girirajan_11_ASD_discovery_controls-NIMH_62

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21411676
CNV End: 21612896
CNV Size: 201221
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDLIM1P2, RPL21P120, KCNJ12, C17orf51

girirajan_11_ASD_discovery_controls-NIMH_72

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2011)
Primary Diagnosis: Control

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 22436354
CNV End: 22762368
CNV Size: 326015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCYBP13, MTRNR2L1, MTND1P15, MTND2P13, NMTRS-TGA3-1, MTATP6P3, MTCO3P13

girirajan_13b_ASD_discovery_controls-10908109454

Clinical Profile:

Ethnicity: Caucasian

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: Control

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 21602093
CNV End: 21650206
CNV Size: 48114
Validation Description: -
Prima