Copy Number Variants / 22q11.21

22q11.21

Case population data
Control population data
Type
Deletion-Duplication
Average Length
1567008
Range
19126900-21976800
Associated Human Genes
CLTCL1, GNB1L, LZTR1, PRODH, TBX1
Associated Animal Models
M_Df(16)_1_HE, M_Df(16)_2_HE, M_Df(16)_3_HE, M_Df(16)_3_HE_GD, M_Df(16)_4_HT
Autism Reports
72
Populations
81 (75 case / 6 control)
Individuals
944 (831 case / 113 control)
Summary

Duplications at the 22q11.21 locus have been observed more frequently than deletions in autistic individuals. Deletions within the 22q11.2 locus can lead to DiGeorge Syndrome (DGS)/Velocardiofacial Syndrome (VCFS), while duplications appear to confer a milder, more variable phenotype.

Reports related to 22q11.21 (72 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
3 Major Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Christian SL , et al. (2008)
4 Major Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Glessner JT , et al. (2009)
5 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , 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 De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
8 Minor Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. Wang LS , et al. (2010)
9 Major Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Bremer A , et al. (2011)
10 Major Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011)
11 Minor Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair. Speevak MD and Farrell SA (2011)
12 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
13 Major Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
14 Major Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
15 Minor Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Chung BH , et al. (2011)
16 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)
17 Minor Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. Gannon WT , et al. (2011)
18 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
19 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
20 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
21 Minor Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Ye T , et al. (2012)
22 Major Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Bartnik M , et al. (2012)
23 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
24 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
25 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
26 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
27 Minor Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Hodge JC , et al. (2013)
28 Minor Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M , et al. (2013)
29 Major High rate of disease-related copy number variations in childhood onset schizophrenia. Ahn K , et al. (2013)
30 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
31 Minor Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Stobbe G , et al. (2013)
32 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
33 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
34 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
35 Major 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)
36 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
37 Minor Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Lionel AC , et al. (2014)
38 Major Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G , et al. (2014)
39 Major Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion. Guilherme RS , et al. (2014)
40 Minor A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescen... Chen CP , et al. (2014)
41 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
42 Major Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in... Chong WW , et al. (2014)
43 MiMinorr 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Reinthaler EM , et al. (2014)
44 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
45 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
46 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
47 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
48 Minor The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
49 Major Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... Shin S , et al. (2015)
50 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
51 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
52 Minor The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Wenger TL , et al. (2016)
53 Major Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder. Chen HI , et al. (2016)
54 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
55 Major Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Tropeano M , et al. (2016)
56 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
57 Minor Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. Breckpot J , et al. (2016)
58 Minor Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Picinelli C , et al. (2016)
59 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
60 Major Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
61 Minor The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. Gillentine MA , et al. (2016)
62 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017)
63 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
64 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)
65 Major High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. Chen CH , et al. (2017)
66 Minor Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ... Lee SH and Song WJ (2017)
67 Minor Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder. Li SJ , et al. (2018)
68 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
69 Minor De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Wang S , et al. (2018)
70 Major Both rare and common genetic variants contribute to autism in the Faroe Islands. Leblond CS , et al. (2019)
71 Major Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c... Zhou WZ , et al. (2019)
72 Minor The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. Jiao Q , et al. (2019)
Show all Case Details Show all Cohort Details

22q11.21

Description:

102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders

Diagnosis:

Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.

Bartnik M , et al. (2012)
Cohort Size: 102

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2397000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
Software: BCM web-based software, IMiD-web2py
Algorithm: -
Geographical Ancestry: Poland

22q11.21

Description:

Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs

Diagnosis:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.

Ahn K , et al. (2013)
Cohort Size: 126

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2985000

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

array SNP, aCGH, qPCR

Platform: Illumina Human or HumanOmni Beadchips
Software: Illumina GenomeStudio, CNVision, Nexus copy number
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

22q11.21

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: 46
Age Max: 57
Average: 51.5

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

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

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

22q11.21

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: 33
Female: -
Unknown: 67
CNV Size: 3154118

Deletion: 3
Duplication: 0

Total CNV: 3
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

22q11.21

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: -
Female: 100
Unknown: -
CNV Size: 2600000

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

22q11.21

Description:

13-year-old female patient with an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12)(q24.3;p11.2)dn.

Diagnosis:

Diagnosis of ASD (according to DSM-IV criteria); case also presented with intellectual disability (IQ of 50)

Chen CP , et al. (2014)
Cohort Size: 1

Age Min: 156
Age Max: 156
Average: 156

Male: -
Female: 100
Unknown: -
CNV Size: 367000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen ISCA Plus
Software: Nexus 6.1
Algorithm: -
Geographical Ancestry: Taiwan

22q11.21

Description:

ASD probands screened for 22q11.2 CNVs

Diagnosis:

Cases diagnosed with ASD based on DSM-IV and confirmed by ADI-R. Autistic symptoms reported by parents on Social Communication Questionnaire (SCQ) and Social Responsive Scale (SRS). Cognitive function assessed with Wechsler Intelligence Scale for Children-Third Edition (WISC-III) and Wisconsin Card Sorting Test.

Chen HI , et al. (2016)
Cohort Size: 335

Age Min: 165.6
Age Max: 166.8
Average: 166.2

Male: 100
Female: -
Unknown: -
CNV Size: 2970000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Taiwan

22q11.21

Description:

Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015

Diagnosis:

Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)

Breckpot J , et al. (2016)
Cohort Size: 15

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: OGT CytoSure ISCA
Software: -
Algorithm: -
Geographical Ancestry: Belgium

22q11.21

Description:

Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.

Diagnosis:

All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest

Chen CH , et al. (2017)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: 25
Female: -
Unknown: 75
CNV Size: 2971000

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

RT-qPCR

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese

22q11.21

Description:

Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)

Diagnosis:

ASD

Christian SL , et al. (2008)
Cohort Size: 397

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 2200000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH, microsatellite, qPCR

Platform: RPCI 19K BAC microarray
Software: -
Algorithm: -
Geographical Ancestry: 235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown

22q11.21

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features

Davis LK , et al. (2009)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1088396

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 250K Nsp, Affymetrix 250K Syt
Software: CNAG v2.0
Algorithm: HMM
Geographical Ancestry: NA

22q11.21

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: 258557

Deletion: 0
Duplication: 1

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

22q11.21

Description:

Patients referred to clinical genetics service and recruited for CMA application study

Diagnosis:

Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)

Chong WW , et al. (2014)
Cohort Size: 105

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2500000

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen)

Platform: High-resolution 180K oligoarray
Software: -
Algorithm: -
Geographical Ancestry: Chinese

22q11.21

Description:

ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).

Diagnosis:

Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories

Egger G , et al. (2014)
Cohort Size: 73

Age Min: 168
Age Max: 168
Average: 168

Male: -
Female: 100
Unknown: -
CNV Size: 29000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 6.0
Software: -
Algorithm: Birdsuite, iPattern, Affymetrix Genotyping Console
Geographical Ancestry: 68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian

22q11.21

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: 2578170

Deletion: 5
Duplication: 23

Total CNV: 28
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

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

22q11.21

Description:

Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic

Diagnosis:

Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism

Gannon WT , et al. (2011)
Cohort Size: 187

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Genome-wide oligo array with 44K platform
Software: -
Algorithm: -
Geographical Ancestry: Gulf Coast of Alabama, Mississippi, & Florida

22q11.21

Description:

Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study

Diagnosis:

Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 2991275

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH, WES

Validation Method:

None

Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland

22q11.21

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: 86
Female: 9
Unknown: 5
CNV Size: 2534025

Deletion: 2
Duplication: 20

Total CNV: 22
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: -

22q11.21

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: 2
Age Max: 72
Average: 25.5

Male: 2
Female: 1
Unknown: 97
CNV Size: 1270000

Deletion: 175
Duplication: 87

Total CNV: 262
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

22q11.21

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Girirajan S , et al. (2013)
Cohort Size: 2588

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3150000

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen 135K array)

Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA

22q11.21

Description:

18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications

Diagnosis:

7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).

Gillentine MA , et al. (2016)
Cohort Size: 18

Age Min: 168
Age Max: 168
Average: 168

Male: 100
Female: -
Unknown: -
CNV Size: 2332546

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families

Diagnosis:

859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)

Glessner JT , et al. (2009)
Cohort Size: 859

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 7682

Deletion: 0
Duplication: 5

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, array SNP

Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European

22q11.21

Description:

Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families

Diagnosis:

1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)

Glessner JT , et al. (2009)
Cohort Size: 1336

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 7682

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, array SNP

Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European

22q11.21

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: 299875

Deletion: 0
Duplication: 1

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)

22q11.21

Description:

Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)

Diagnosis:

Developmental delay

Girirajan S , et al. (2013)
Cohort Size: 31518

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3150000

Deletion: 96
Duplication: 0

Total CNV: 96
Discovery Method:

N/A

Validation Method:

None

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA

22q11.21

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: 779156

Deletion: 0
Duplication: 11

Total CNV: 11
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

22q11.21

Description:

Patients with deletions in ring chromosome 22

Diagnosis:

Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy

Guilherme RS , et al. (2014)
Cohort Size: 5

Age Min: 12
Age Max: 12
Average: 12

Male: -
Female: 100
Unknown: -
CNV Size: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Karyotyping, solid phase hybridization, array SNP

Validation Method:

FISH

Platform: Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.0
Software: -
Algorithm: -
Geographical Ancestry: Brazil

22q11.21

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2533487

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (custom NimbleGen 12 X 135)

Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -

22q11.21

Description:

Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)

Diagnosis:

Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.

Hodge JC , et al. (2013)
Cohort Size: 17

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 773000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: -
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018

Diagnosis:

Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).

Jiao Q , et al. (2019)
Cohort Size: 220

Age Min: 108
Age Max: 108
Average: 108

Male: -
Female: 100
Unknown: -
CNV Size: 2540000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

Platform: Low-coverage whole genome sequencing
Software: Illumina BclToFastq
Algorithm: -
Geographical Ancestry: China

22q11.21

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: 3211541

Deletion: 104
Duplication: 47

Total CNV: 151
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

22q11.21

Description:

Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

Diagnosis:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

Kanduri C , et al. (2015)
Cohort Size: 80

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 118619

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

22q11.21

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: 100
Female: -
Unknown: -
CNV Size: 104075

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection

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

22q11.21

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: 64
Female: 36
Unknown: -
CNV Size: 2737249

Deletion: 4
Duplication: 4

Total CNV: 8
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

22q11.21

Description:

Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome

Diagnosis:

Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)

Lee SH and Song WJ (2017)
Cohort Size: 42

Age Min: 72
Age Max: 72
Average: 72

Male: 100
Female: -
Unknown: -
CNV Size: 107817

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.3.2.0.1252
Algorithm: -
Geographical Ancestry: Korean

22q11.21

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: 192
Age Max: 708
Average: 407.42857142857

Male: 52
Female: 48
Unknown: -
CNV Size: 2372671

Deletion: 0
Duplication: 5

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

N/A

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

22q11.21

Description:

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

Diagnosis:

Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

Kushima I , et al. (2018)
Cohort Size: 2458

Age Min: 192
Age Max: 708
Average: 407.42857142857

Male: 52
Female: 48
Unknown: -
CNV Size: 3228110

Deletion: 15
Duplication: 0

Total CNV: 15
Discovery Method:

aCGH

Validation Method:

N/A

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

22q11.21

Description:

Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.

Diagnosis:

All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).

Leblond CS , et al. (2019)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 2682340

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization, WES

Validation Method:

SnipPeep and XHMM plot visualizations

Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands

22q11.21

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: 83
Female: 17
Unknown: -
CNV Size: 1443754

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 244K)

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

22q11.21

Description:

Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders: 1619 cases from Alberta Children's Hospital; 14,847 cases from Brain and Body Genetic Resource Exchange (BBGRE) database; 7320 cases from Boston Children's Hospital; 3552 cases from Credit Valley Hospital; 7411 cases from the Hospital for Sick Children; 6626 c

Diagnosis:

64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)

Lionel AC , et al. (2014)
Cohort Size: 89985

Age Min: 24
Age Max: 24
Average: 24

Male: 100
Female: -
Unknown: -
CNV Size: 2491190

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Multiple platforms (Agilent, Affymetrix, Illumina)
Software: -
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 17
Unknown: 33
CNV Size: 2690000

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

22q11.21

Description:

Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research

Diagnosis:

Diagnosis of ASD made according to DSM-IV

Li SJ , et al. (2018)
Cohort Size: 13

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 238584

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Low-coverage WGS

Validation Method:

None

Platform: Illumina HiSeq 2000 or 2500 analyzers
Software: -
Algorithm: PSCC
Geographical Ancestry: Chinese

22q11.21

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2771300

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African

22q11.21

Description:

SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

Mulle JG , et al. (2013)
Cohort Size: 554

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3139786

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

Solid phase hybridization

Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish

22q11.21

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: 88
Female: 13
Unknown: -
CNV Size: 2580000

Deletion: 1
Duplication: 7

Total CNV: 8
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

22q11.21

Description:

Youth with ASD (as part of mother-father-child trios)

Diagnosis:

ASD

Nord AS , et al. (2011)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 142683

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

PCR

Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: 29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry

22q11.21

Description:

ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

Oikonomakis V , et al. (2016)
Cohort Size: 195

Age Min: 12
Age Max: 432
Average: 192

Male: 33
Female: 67
Unknown: -
CNV Size: 305000

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece

22q11.21

Description:

Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives

Diagnosis:

Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)

Picinelli C , et al. (2016)
Cohort Size: 6

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 115673

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 4x180K
Software: Agilent Cytogenomic Software v2.7
Algorithm: ADM-2
Geographical Ancestry: Italy

22q11.21

Description:

Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting

Diagnosis:

Neurodevelopmental disorders

Pfundt R , et al. (2016)
Cohort Size: 1215

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 3011674

Deletion: 4
Duplication: 3

Total CNV: 7
Discovery Method:

WES

Validation Method:

Array SNP (Affymetrix CytoScan HD)

Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

22q11.21

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: 83
Female: 17
Unknown: -
CNV Size: 172605

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

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

22q11.21

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: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2537994

Deletion: 1
Duplication: 3

Total CNV: 4
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

22q11.21

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: 71
Female: 29
Unknown: -
CNV Size: 2868041

Deletion: 4
Duplication: 3

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

qPCR

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

22q11.21

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: 2373401

Deletion: 4
Duplication: 6

Total CNV: 10
Discovery Method:

aCGH

Validation Method:

FISH

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

22q11.21

Description:

Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012

Diagnosis:

ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)

Roberts JL , et al. (2013)
Cohort Size: 215

Age Min: 72
Age Max: 384
Average: 234

Male: -
Female: 100
Unknown: -
CNV Size: 3100000

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

BACs aCGH or FISH

Platform: 105K or 180K oligonucleotide microarray
Software: Nexus Copy Number (BioDiscovery)
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)

Diagnosis:

Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.

Reinthaler EM , et al. (2014)
Cohort Size: 281

Age Min: -
Age Max: -
Average: -

Male: 50
Female: -
Unknown: 50
CNV Size: 3100000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian

22q11.21

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: 12
Age Max: 192
Average: 99

Male: 63
Female: 38
Unknown: -
CNV Size: 3154118

Deletion: 3
Duplication: 5

Total CNV: 8
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

22q11.21

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: 185623

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

22q11.21

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: 73
Female: 27
Unknown: -
CNV Size: 1439985

Deletion: 13
Duplication: 45

Total CNV: 58
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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&

22q11.21

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: 2
Age Max: 36
Average: 24.5

Male: 100
Female: -
Unknown: -
CNV Size: 2844000

Deletion: 3
Duplication: 1

Total CNV: 4
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

22q11.21

Description:

ASD patients from 173 families with at least two affected individuals from AGP

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2799900

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

Platform: Affymetrix 10K (v2)
Software: dChip
Algorithm: HMM
Geographical Ancestry: -

22q11.21

Description:

Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay

Diagnosis:

Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.

Speevak MD and Farrell SA (2011)
Cohort Size: 1

Age Min: 54
Age Max: 54
Average: 54

Male: 100
Female: -
Unknown: -
CNV Size: 206900

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: CytoChip 105K array
Software: BlueFuse Multi
Algorithm: -
Geographical Ancestry: NA

22q11.21

Description:

Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).

Diagnosis:

Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.

Tropeano M , et al. (2013)
Cohort Size: 10397

Age Min: 24
Age Max: 24
Average: 24

Male: -
Female: 100
Unknown: -
CNV Size: 3609098

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: 70% Caucasian, 15% African, 15% other/mixed ancestry

22q11.21

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: 324
Age Max: 324
Average: 324

Male: 100
Female: -
Unknown: -
CNV Size: 2490000

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

22q11.21

Description:

Patients with normal karyotype referred for further genetic testing from March 2012-April 2014

Diagnosis:

34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID

Shin S , et al. (2015)
Cohort Size: 96

Age Min: 84
Age Max: 84
Average: 84

Male: 100
Female: -
Unknown: -
CNV Size: 2883000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

MLPA

Validation Method:

Array SNP (Affymetrix CytoScan 750K)

Platform: SALSA MLPA P245 Microdeletion Syndromes probemix
Software: GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

22q11.21

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: 3266332

Deletion: 0
Duplication: 1

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

22q11.21

Description:

ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)

Diagnosis:

Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.

Tropeano M , et al. (2016)
Cohort Size: 90

Age Min: 240
Age Max: 480
Average: 312

Male: 40
Female: 60
Unknown: -
CNV Size: 2901783

Deletion: 4
Duplication: 1

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

MLPA, aCGH

Platform: Agilent 60K
Software: Agilent Feature Extraction, Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: United Kingdom

22q11.21

Description:

ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)

Diagnosis:

ASD (according to DSM-IV criteria)

Wang LS , et al. (2010)
Cohort Size: 103

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 923000

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap550 BeadChip
Software: BeadStudio
Algorithm: PennCNV
Geographical Ancestry: Croatian

22q11.21

Description:

Patients referred for aCGH analysis from 2008-present

Diagnosis:

Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)

Tzetis M , et al. (2012)
Cohort Size: 334

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 2800000

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece

22q11.21

Description:

ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases

Diagnosis:

ASD

Wenger TL , et al. (2016)
Cohort Size: 62

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2584567

Deletion: 5
Duplication: 1

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap 550 or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A

22q11.21

Description:

Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts

Diagnosis:

Probands diagnosed with Tourette syndrome

Wang S , et al. (2018)
Cohort Size: 789

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1804122

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH

Diagnosis:

Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193

Ye T , et al. (2012)
Cohort Size: 486

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2700000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M Duo SNP chip
Software: Illumina GenomeStudio V2010.1
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: NA

22q11.21

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: 1869512

Deletion: 3
Duplication: 4

Total CNV: 7
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese

22q11.21

Description:

Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014

Diagnosis:

66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).

Xu Q , et al. (2016)
Cohort Size: 115

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th

Diagnosis:

ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5

C Yuen RK , et al. (2017)
Cohort Size: 2626

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2924499

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

WGS

Validation Method:

aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A

22q11.21

Description:

ASD probands from families recruited from training centers in Beijing and Tsingdao, China

Diagnosis:

Cases were diagnosed for ASD by ADI-R and ADOS

Zhou WZ , et al. (2019)
Cohort Size: 539

Age Min: 36
Age Max: 36
Average: 36

Male: -
Female: 100
Unknown: -
CNV Size: 215000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Targeted exome sequencing

Validation Method:

qPCR

Platform: Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
Software: XHMM v.1.0
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Case Details Show all Cohort Details

ahn_13_SCZ_discovery_cases-NSB_ID1220

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21158044
CNV Size: 2818915
Validation Description: array SNP, aCGH, and/or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

ahn_13_SCZ_discovery_cases-NSB_ID1275

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21393389
CNV Size: 3054260
Validation Description: array SNP, aCGH, and/or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, POM121L8P, BCRP6, PPP1R26P5, LINC01651, RIMBP3B, RN7SKP63, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

ahn_13_SCZ_discovery_cases-NSB_ID1804

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21279061
CNV Size: 2939932
Validation Description: array SNP, aCGH, and/or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

ahn_13_SCZ_discovery_cases-NSB_ID3169

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21443910
CNV Size: 3104781
Validation Description: array SNP, aCGH, and/or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, POM121L8P, BCRP6, PPP1R26P5, LINC01651, RIMBP3B, RN7SKP63, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, HIC2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

ahn_13_SCZ_discovery_cases-NSB_ID537

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21170959
CNV Size: 2831830
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00155

Clinical Profile:

Developmental delay with microcephaly, hyperactivity, long face, high arched palate, dental carries and vascular ring (Velocardiofacial Syndrome). Consanguineous parents.

Cognitive Profile:

Developmental delay

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18162023
CNV End: 21444618
CNV Size: 3282596
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, POM121L8P, BCRP6, PPP1R26P5, LINC01651, RIMBP3B, RN7SKP63, USP18, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, HIC2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case10DG0083

Clinical Profile:

Intellectual disability with dysmorphic features and bronchial asthma (Velocardiofacial Syndrome). Non-consanguineous parents.

Cognitive Profile:

Intellectual disability

Al-Qattan SM , et al. (2014)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 20363365
CNV Size: 2024236
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, TXNRD2

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0586

Clinical Profile:

Developmental delay with dysmorphic features, no cleft and no murmur, history of twitching on right side of face due to hypocalcaemia (Velocardiofacial Syndrome). Non-consanguineous parents.

Cognitive Profile:

Developmental delay

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18162023
CNV End: 21111373
CNV Size: 2949351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, USP18, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

bartnik_12_EP_discovery_cases-case4

Clinical Profile:

Age of onset of epilepsy: 13 years. Seizure types/epilepsy syndrome: Juvenile myoclonic epilepsy (JME). Parental phenotype: mother with mild intellectual disability and velocardiofacial syndrome (VCFS).

Cognitive Profile:

Normal IQ

Bartnik M , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18339130
CNV End: 21076885
CNV Size: 2737756
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

battaglia_13_DD/ID/ASD_discovery_cases-case41

Clinical Profile:

Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Borderline DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Autism and borderline DD/ID

Age: 3 yrs. 10 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18339130
CNV End: 21028664
CNV Size: 2689535
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

battaglia_13_DD/ID/ASD_discovery_cases-case76

Clinical Profile:

Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Borderline DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: PDD-NOS and borderline DD/ID

Age: 4 yrs. 9 mos.

Gender: M
Primary Disorder Inheritence: Maternal

Family Profile: Possible multi-generational
CNV Start: 18888903
CNV End: 19037282
CNV Size: 148380
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: DGCR10, CA15P1, DGCR6, PRODH, DGCR5, DGCR2, DGCR9

breckpot_16_ID/catatonia_discovery_cases-case5

Clinical Profile:

Case met DSM-5 criteria for catatonia (symptoms included stupor, agitation, mutism, stereotypies, grimacing, ambitendence, perseveration, automatic obedience, mitgehen, autonomous symptoms). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: none. Additional medical history: sarcoidosis, unilateral facial palsy.

Cognitive Profile:

Mild intellectual disability

Breckpot J , et al. (2016)
Primary Diagnosis: Intellectual disability and catatonia

Age: N/A (adult)

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18178932
CNV End: 21307146
CNV Size: 3128215
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, POM121L8P, BCRP6, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

bremer_11_ASD_discovery_cases-case9

Clinical Profile:

Non-syndromic ASD, familial case

Cognitive Profile:

IQ>70

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 18339130
CNV End: 21207225
CNV Size: 2868096
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chen_14_ASD/ID_discovery_cases-case1

Clinical Profile:

Diagnosis of ASD (according to DSM-IV criteria). Birth/neonatal history: born at term with birth weight of 3280 g. Developmental milestones: speech delay noted at age of 3 years (led to early intervention). Motor and musculoskeletal evaluation: jumping-like gait; bilateral clinodactyly of the 5th fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: found to have autism at age of 8 years; emotional instability, behavior problems. Other features: difficulty in self-care of menstruation. Dysmorphic features: microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease. Growth parameters: height of 161 cm, weight of 61 kg, and head circumference of 54.3 cm. Karyotype: apparently balanced reciprocal translocation [46,XX,t(8;12)(q24.3;p11.2)dn] identified at age of 8 years. Family history: healthy parents with normal karyotypes; 23-year-old mother and 25-year-old father at time of birth.

Cognitive Profile:

Intellectual disability and cognitive impairment (IQ score of 50); enrolled in special school for children with intellectual disability.

Chen CP , et al. (2014)
Primary Diagnosis: ASD and ID

Age: 13 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown (possible simplex)
CNV Start: 18657470
CNV End: 19024306
CNV Size: 367000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (possible simplex)
Genome Build: GRCh37
Gene Content: USP18, DGCR6, PRODH, DGCR2

chen_16_ASD_discovery_cases-probandU-801

Clinical Profile:

Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of Asperger's syndrome). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/27 (cut-off score of 10); qualitative abnormalities in communication, 6/12 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 3/5 (cut-off score of 3). Social Responsive Scale assessment (Raw score/t score): social communication, 46/94.90; stereotyped behaviors/interests, 23/87.93; social awareness, 24/62.99; social emotion, 15/72.56; total score, 108/88.23. Social Communication Questionnaire assessment: social interaction subscale score of 15, repetitive behavior score of 2, communication subscale score of 2, total score of 18 (cut-off score is 15). Brain imaging: increased volume in the left cingulate gyrus across rostral and caudal anterior, isthmus, and posterior parts; decreased volumes in the right cingulate gyrus except for rostral anterior cingulate compared to typically developing controls. Family history: both parents and unaffected female sibling (U-804) are negative for the 22q11.2 duplication.

Cognitive Profile:

Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 120 (91st %ile), performance IQ of 112 (79th %ile), full-scale IQ of 117 (87th %ile). Wisconsin Card Sorting Test assessment: total errors score of 10 (95th %ile), perseverative response score of 5 (97th %ile), perseverative errors score of 5 (96th %ile), nonperseverative errors score of 5 (88th %ile), conceptual level responses score of 61 (88th %ile).

Chen HI , et al. (2016)
Primary Diagnosis: ASD

Age: 13.9 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18640000
CNV End: 21610000
CNV Size: 2970000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: Estimated gene content: DGCR6, PRODH, DGCR2, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, ARVCF, TANGO2, DGCR8, TRMT2A, RANBP1, ZDHHC8, CCDC188, RTN4R, DGCR6L, TMEM191B, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, P2RX6, SLC7A4, LRRC74B

chen_16_ASD_discovery_cases-probandU-830

Clinical Profile:

Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of autistic disorder). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/23 (cut-off score of 10); qualitative abnormalities in communication, 8/20 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 9/10 (cut-off score of). Social Responsive Scale assessment (Raw score/t score): social communication, 42/89.91; stereotyped behaviors/interests, 21/83.52; social awareness, 18/53.97; social emotion, 11/62.11; total score, 92/79.55. Social Communication Questionnaire assessment: social interaction subscale score of 12, repetitive behavior score of 9, communication subscale score of 4, total score of 24 (cut-off score is 15). Epilepsy/seizures: epilepsy at 8 months of age. Brain imaging: increased volume of bilateral cingulate gyrus compared to typically developing controls. Family history: both parents and sister diagnosed with PDD-NOS were negative for 22q11.2 deletion.

Cognitive Profile:

Diagnosed with intellectual disability at age of 5 years. Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 70 (2nd %ile), performance IQ of 48 (<0.1st %ile), full-scale IQ of 55 (0.1st %ile). Wisconsin Card Sorting Test assessment: total errors score of 95 (<1st %ile), perseverative response score of 62 (1st %ile), perseverative errors score of 52 (1st %ile), nonperseverative errors score of 43 (2nd %ile), conceptual level responses score of 3 (<1st %ile).

Chen HI , et al. (2016)
Primary Diagnosis: ASD, ID, and epilepsy

Age: 13.8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 19020000
CNV End: 21610000
CNV Size: 2090000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: Estimated gene content: DGCR2, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, SEPT5, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, ARVCF, TANGO2, DGCR8, TRMT2A, RANBP1, ZDHHC8, CCDC188, RTN4R, DGCR6L, TMEM191B, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, P2RX6, SLC7A4, LRRC74B

chen_17_ASD_discovery_cases-caseU-1994

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 11); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 9); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 2 (past score 2); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 42. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 94, Verbal IQ 116, Full-scale IQ 106

Chen CH , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18794021
CNV End: 19019471
CNV Size: 225451
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: E2F6P1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR9

chen_17_ASD_discovery_cases-caseU-801

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 12); Qualitative abnormalities in nonverbal communication, current score 5 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 5); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 108; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 18. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 112, Verbal IQ 120, Full-scale IQ 117

Chen CH , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18157533
CNV End: 21257048
CNV Size: 3099516
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, USP18, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chen_17_ASD_discovery_cases-caseU-830

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 20); Qualitative abnormalities in nonverbal communication, current score 1 (past score 10); Restricted, repetitive, and stereotyped patterns of behaviour, current score 9 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 92; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 23. Epilepsy: diagnosis of epilepsy.

Cognitive Profile:

Performance IQ 48, Verbal IQ 70, Full-scale IQ 55

Chen CH , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 18339130
CNV End: 21257048
CNV Size: 2917919
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1104

Clinical Profile:

Developmental delay, dysmorphic features. Family history: none reported.

Cognitive Profile:

Developmental delay

Chong WW , et al. (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (negative family history)
CNV Start: 18339130
CNV End: 21003834
CNV Size: 2664705
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex (negative family history)
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1678

Clinical Profile:

Mild developmental delay, autistic, dysmorphic features. Family history: none reported.

Cognitive Profile:

Mild developmental delay

Chong WW , et al. (2014)
Primary Diagnosis: DD and autistic features

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (negative family history)
CNV Start: 18339130
CNV End: 21003693
CNV Size: 2664564
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex (negative family history)
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3712

Clinical Profile:

Moderate developmental delay, multiple congenital anomalies (MCA), dysmorphic features. Family history: none reported.

Cognitive Profile:

Moderate developmental delay

Chong WW , et al. (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (negative family history)
CNV Start: 18339130
CNV End: 21003834
CNV Size: 2664705
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex (negative family history)
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4349

Clinical Profile:

Severe developmental delay, dysmorphic features, hypothyroidism. Family history: spontaneous twin with hypothyroidism and delay (presence of 22q11.21 deletion in this individual N/A).

Cognitive Profile:

Severe developmental delay

Chong WW , et al. (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex (spontaneous twin with similar phenotype)
CNV Start: 18339130
CNV End: 21107640
CNV Size: 2768511
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex (spontaneous twin with similar phenotype)
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

christian_08_ASD_discovery_cases-AU001804

Clinical Profile:

NA

Cognitive Profile:

NA

Christian SL , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 18339130
CNV End: 20988591
CNV Size: 2649462
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

christian_08_ASD_discovery_cases-AU004903

Clinical Profile:

NA

Cognitive Profile:

NA

Christian SL , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 18339130
CNV End: 20988591
CNV Size: 2649462
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: de novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

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: 18760915
CNV End: 19019471
CNV Size: 258557
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: E2F6P1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR9

davis_09_ASD_discovery_cases-AU1334302

Clinical Profile:

Diagnosis: broad spectrum autism. Syndromic autism features: micropthalmia. Family history: father diagnosed with depression, anxiety disorder, and ADHD.

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 18697765
CNV End: 19786161
CNV Size: 1088396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: RIMBP3, ZNF74, SCARF2, KLH22, MED15, PI4KA, SERPIND1, SNAP29, CRKL, THAP7, AIMF3, LZTR1, P2RX6, SLC7A4

egger_14_ASD_discovery_cases-caseA38

Clinical Profile:

Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.

Cognitive Profile:

Normal IQ (IQ 91)

Egger G , et al. (2014)
Primary Diagnosis: ASD

Age: 14 yrs. (born 2000)

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 19205086
CNV End: 19233883
CNV Size: 28798
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case1195_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: 18679463
CNV End: 19051539
CNV Size: 372076
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case14230_3640

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: 20379205
CNV End: 21109441
CNV Size: 730237
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, KLHL22, MED15, PI4KA, AIFM3

engchuan_15_ASD_discovery_cases-case16074_1571042001

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: 18339130
CNV End: 21109441
CNV Size: 2770312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case17015_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: 18890274
CNV End: 20330249
CNV Size: 1439976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, TXNRD2

engchuan_15_ASD_discovery_cases-case17015_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: 20367174
CNV End: 21111491
CNV Size: 744318
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, KLHL22, MED15, PI4KA, AIFM3

engchuan_15_ASD_discovery_cases-case1763_311

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: 18679463
CNV End: 19051464
CNV Size: 372001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case3067_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: 20367174
CNV End: 21111491
CNV Size: 744318
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, KLHL22, MED15, PI4KA, AIFM3

engchuan_15_ASD_discovery_cases-case3126_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: 18692668
CNV End: 19051539
CNV Size: 358871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case3127_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: 18339130
CNV End: 21109441
CNV Size: 2770312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case3183_7

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: 18339130
CNV End: 21135629
CNV Size: 2796500
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case3205_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: 18692668
CNV End: 19051539
CNV Size: 358871
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case4271_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: 18339130
CNV End: 21111491
CNV Size: 2772362
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case5039_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: 18688800
CNV End: 19051539
CNV Size: 362739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5222_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: 18688800
CNV End: 19051539
CNV Size: 362739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5261_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: 18339130
CNV End: 21111491
CNV Size: 2772362
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case5268_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: 18688800
CNV End: 19051539
CNV Size: 362739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5291_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: 18688800
CNV End: 19051464
CNV Size: 362664
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5378_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: 20379205
CNV End: 20674658
CNV Size: 295454
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, USP41, ZNF74, SCARF2, SMPD4P1, KLHL22, MED15

engchuan_15_ASD_discovery_cases-case5397_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: 18688800
CNV End: 19051539
CNV Size: 362739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5510_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: 17051550
CNV End: 17388108
CNV Size: 336558
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case5559_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: 20175547
CNV End: 20229281
CNV Size: 53735
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6021_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: 17051550
CNV End: 17388108
CNV Size: 336558
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case6125_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: 20367174
CNV End: 21109441
CNV Size: 742268
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, KLHL22, MED15, PI4KA, AIFM3

engchuan_15_ASD_discovery_cases-case6242_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: 18710895
CNV End: 19013371
CNV Size: 302476
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case6323_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: 18688800
CNV End: 19051539
CNV Size: 362739
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: NCBI36
Gene Content: -

engchuan_15_ASD_discovery_cases-case6340_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: 21562901
CNV End: 21593355
CNV Size: 30455
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case8627_201

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: 18339130
CNV End: 21109441
CNV Size: 2770312
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

engchuan_15_ASD_discovery_cases-case8703_201

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: 19907019
CNV End: 19951573
CNV Size: 44555
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COMT, TXNRD2

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259106

Clinical Profile:

Sparse scalp hair; Fragile nails; Abnormality of limb bone morphology; Alopecia of scalp; High palate; Global developmental delay; Global developmental delay; Abnormality of the heart

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Multi-generational
CNV Start: 18339130
CNV End: 21109830
CNV Size: 2770701
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: De novo
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260134

Clinical Profile:

Agenesis of corpus callosum; Periventricular gray matter heterotopia; Seizures; Frontal bossing; Eczema

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Seizures

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18339130
CNV End: 21476273
CNV Size: 3137144
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, POM121L7P, E2F6P2, E2F6P3, POM121L8P, BCRP6, PPP1R26P5, LINC01651, RIMBP3B, RN7SKP63, TMEM191C, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230B, GGT2, HIC2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, PI4KAP2, TXNRD2, AIFM3

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260575

Clinical Profile:

Abnormality of the nervous system; Dysphagia; Abnormality of the palpebral fissures; Inverted nipples; Redundant skin; Global developmental delay

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18339130
CNV End: 21109830
CNV Size: 2770701
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262138

Clinical Profile:

Specific learning disability; Congenital hypothyroidism; Abnormality of metabolism/homeostasis; Rhabdomyolysis; Cardiomyopathy

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Learning disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18339130
CNV End: 21109830
CNV Size: 2770701
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

gannon_11_ASD/DD_discovery_cases-patientV

Clinical Profile:

Dysmorphic features: unknown

Cognitive Profile:

IQ unknown

Gannon WT , et al. (2011)
Primary Diagnosis: ASD and/or DD

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R but was classified as being on the autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, speech delay, dysmorphic features. Developmental milestones: N/A. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 0.32th %ile, weight 3.03th %ile, OFC 5th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 53.

Gillentine MA , et al. (2016)
Primary Diagnosis: Speech delay

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18339130
CNV End: 21095622
CNV Size: 2756493
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

girirajan_11_ASD_discovery_cases-Si123

Clinical Profile:

ADOS score: 7. Vineland composite score: 74.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18339130
CNV End: 21116264
CNV Size: 2777135
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: GGTLC5P, PPP1R26P3, GGTLC3, RN7SKP131, RIMBP3, SUSD2P2, CA15P2, PPP1R26P2, PPP1R26P4, E2F6P1, DGCR10, CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, RNU6-225P, RNY1P9, RN7SL812P, KRT18P5, CCDC74BP1, IGLL4P, SLC9A3P2, ABHD17AP4, BCRP5, TMEM191A, LINC01637, THAP7, TUBA3FP, SLC7A4, MIR649, TMEM191B, PI4KAP1, GGT3P, BCRP7, DGCR6, PRODH, DGCR5, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, USP41, ZNF74, SCARF2, SMPD4P1, POM121L4P, SERPIND1, SNAP29, CRKL, LZTR1, THAP7-AS1, P2RX6, P2RX6P, LRRC74B, TUBA3GP, BCRP2, FAM230A, DGCR9, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, DGCR6L, KLHL22, MED15, PI4KA, TXNRD2, AIFM3

girirajan_11_ASD_discovery_cases-Si149

Clinical Profile:

ADOS score: 8. Vineland composite score: 74.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18599601
CNV End: 18748556
CNV Size: 148955
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si19

Clinical Profile:

ADOS score: 6. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20168777
CNV End: 20313060
CNV Size: 144284
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC00896, MIR1286, RTN4R

girirajan_11_ASD_discovery_cases-Si193

Clinical Profile:

ADOS score: 8. Vineland composite score: 86.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18907030
CNV End: 19019954
CNV Size: 112925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DGCR6, PRODH, DGCR5, DGCR9

girirajan_11_ASD_discovery_cases-Si20

Clinical Profile:

ADOS score: 7. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18536300
CNV End: 18748556
CNV Size: 212256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si206

Clinical Profile:

ADOS score: 8. Vineland composite score: 101.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18536300
CNV End: 18748556
CNV Size: 212256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si207

Clinical Profile:

ADOS score: 7. Vineland composite score: 91.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18562002
CNV End: 18748556
CNV Size: 186554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si208

Clinical Profile:

ADOS score: 4. Vineland composite score: 61.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18603026
CNV End: 18748556
CNV Size: 145530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si209

Clinical Profile:

ADOS score: 6. Vineland composite score: 90.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18536300
CNV End: 18748556
CNV Size: 212256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si22

Clinical Profile:

ADOS score: 8. Vineland composite score: 89.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20168777
CNV End: 20323613
CNV Size: 154837
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC00896, MIR1286, RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si229

Clinical Profile:

ADOS score: 9. Vineland composite score: 69.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18890825
CNV End: 19019954
CNV Size: 129130
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DGCR6, PRODH, DGCR5, DGCR9

girirajan_11_ASD_discovery_cases-Si246

Clinical Profile:

ADOS score: NA. Vineland composite score: 59.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.

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

Age: 18

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18536300
CNV End: 18748556
CNV Size: 212256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si250

Clinical Profile:

ADOS score: 6. Vineland composite score: 66.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18559232
CNV End: 18748556
CNV Size: 189324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si255

Clinical Profile:

ADOS score: 5. Vineland composite score: 88.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18890825
CNV End: 19043451
CNV Size: 152627
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DGCR10, CA15P1, DGCR6, PRODH, DGCR5, DGCR2, DGCR9

girirajan_11_ASD_discovery_cases-Si309

Clinical Profile:

ADOS score: 9. Vineland composite score: 65.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 51; Non-verbal IQ, 65.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18599601
CNV End: 18748556
CNV Size: 148955
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si318

Clinical Profile:

ADOS score: 7. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18565059
CNV End: 18748556
CNV Size: 183497
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si35

Clinical Profile:

ADOS score: 8. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 20168777
CNV End: 20313060
CNV Size: 144284
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC00896, MIR1286, RTN4R

girirajan_11_ASD_discovery_cases-Si45

Clinical Profile:

ADOS score: 7. Vineland composite score: 86.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18562002
CNV End: 18748556
CNV Size: 186554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si57

Clinical Profile:

ADOS score: 6. Vineland composite score: 83.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18603026
CNV End: 18748556
CNV Size: 145530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si8

Clinical Profile:

ADOS score: 7. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 93; Non-verbal IQ, 91.

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18536300
CNV End: 18748556
CNV Size: 212256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: RTN4R, DGCR6L

girirajan_11_ASD_discovery_cases-Si86

Clinical Profile:

ADOS score: 10. Vineland composite score: 53.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 19; Non-verbal IQ, 29.

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

Age: 17

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 18907030
CNV End: 19019954
CNV Size: 112925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DGCR6, PRODH, DGCR5, DGCR9

girirajan_12_ASD/DD/ID_discovery_cases-case1593

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1594

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1595

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1596

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1597

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1598

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1599

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1600

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1601

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1602

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1603

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1604

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1605

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1606

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1607

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1608

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1609

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1610

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1611

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1612

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1613

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1614

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1615

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1616

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1617

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1618

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1619

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1620

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1621

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1622

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1623

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1624

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1625

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1626

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1627

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1628

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1629

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1630

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1631

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1632

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1633

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1634

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1635

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1636

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1637

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1638

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1639

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1640

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1641

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1642

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1643

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1644

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1645

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1646

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1647

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1648

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1649

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1650

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1651

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1652

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1653

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1654

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1655

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1656

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1657

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1658

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1659

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1660

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1661

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1662

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1663

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1664

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1665

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1666

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1667

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1668

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1669

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1670

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1671

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1672

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1673

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1674

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1675

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1676

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1677

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1678

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1679

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1680

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1681

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1682

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1683

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1684

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1685

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1686

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1687

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1688

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1689

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1690

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1691

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1692

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1693

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1694

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1695

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1696

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1697

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1698

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1699

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1700

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1701

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1702

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1703

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1704

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1705

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1706

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1707

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1708

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1709

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1710

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1711

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1712

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1713

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1714

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1715

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1716

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1717

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1718

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1719

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1720

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1721

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1722

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1723

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1724

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1725

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1726

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1727

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1728

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1729

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1730

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1731

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1732

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1733

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1734

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1735

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1736

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CA15P1, DGCR11, TSSK1A, TSSK2, GSC2, LINC01311, SLC25A1, KRT18P62, MRPL40, CLDN5, LINC00895, SEPT5, SEPT5-GP1BB, GP1BB, RTL10, MIR4761, MIR185, MIR3618, MIR1306, TRMT2A, MIR6816, CCDC188, LINC00896, MIR1286, DGCR2, RN7SL168P, UFD1, CDC45, TBX1, COMT, ARVCF, DGCR8, RANBP1, ZDHHC8, RTN4R, ESS2, CLTCL1, HIRA, C22orf39, GNB1L, TANGO2, TXNRD2

girirajan_12_ASD/DD/ID_discovery_cases-case1737

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: 19032487
CNV End: 20302477
CNV Size: 1269991
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38