16p13.3
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
373179Range
3392370-5752860Associated Human Genes
CACNA1H, CASKIN1, CREBBP, METTL26, PRR25, RBFOX1, SRRM2, TRAF7, TSC2Associated Mouse Models
-Autism Reports
52Populations
62 (56 case / 6 control)Individuals
482 (350 case / 132 control)Summary
Summary statement in development
External Links
Reports related to 16p13.3 (52 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Strong association of de novo copy number mutations with autism. | Sebat J , et al. (2007) |
| 2 | Major | Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. | Martin CL , et al. (2007) |
| 3 | Major | De novo rates and selection of large copy number variation. | Itsara A , et al. (2010) |
| 4 | Major | Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. | Bremer A , et al. (2011) |
| 5 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 6 | Minor | Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. | Nord AS , et al. (2011) |
| 7 | 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) |
| 8 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 9 | 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) |
| 10 | Minor | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 11 | Minor | Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S , et al. (2011) |
| 12 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 13 | Major | Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. | Demeer B , et al. (2012) |
| 14 | Major | Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. | Iourov IY , et al. (2013) |
| 15 | Major | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 16 | Major | Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. | Lal D , et al. (2013) |
| 17 | Major | Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. | Nguyen LS , et al. (2013) |
| 18 | Minor | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 19 | Major | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 20 | Major | RBFOX1 and RBFOX3 mutations in rolandic epilepsy. | Lal D , et al. (2013) |
| 21 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 22 | Minor | Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA , et al. (2013) |
| 23 | Major | Outfoxed by RBFOX1-a caution about ascertainment bias. | Kamien B , et al. (2014) |
| 24 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 25 | Major | Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in... | Chong WW , et al. (2014) |
| 26 | Major | The clinical significance of small copy number variants in neurodevelopmental disorders. | Asadollahi R , et al. (2014) |
| 27 | Major | Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ , et al. (2014) |
| 28 | Minor | Large-scale discovery of novel genetic causes of developmental disorders. | Deciphering Developmental Disorders Study (2014) |
| 29 | Minor | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 30 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 31 | Minor | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C , et al. (2015) |
| 32 | Minor | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. | Tammimies K , et al. (2015) |
| 33 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 34 | Major | Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. | Mosca SJ , et al. (2016) |
| 35 | Minor | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 36 | Minor | Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. | Pfundt R , et al. (2016) |
| 37 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 38 | 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) |
| 39 | Major | High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. | Chen CH , et al. (2017) |
| 40 | Minor | Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ... | Lee SH and Song WJ (2017) |
| 41 | Minor | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 42 | Minor | The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. | Jiao Q , et al. (2019) |
| 43 | Major | Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. | Munnich A , et al. (2019) |
| 44 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 45 | Minor | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | Mahjani B et al. (2021) |
| 46 | Major | Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome | Elalaoui SC et al. (2021) |
| 47 | Minor | Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants | Tuncay IO et al. (2022) |
| 48 | Minor | Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean | Verberne EA et al. (2022) |
| 49 | Minor | Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder | Cuinat S et al. (2022) |
| 50 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 51 | Minor | Complex Diagnostics of Non-Specific Intellectual Developmental Disorder | Levchenko O et al. (2022) |
| 52 | Minor | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | Chan AJS et al. (2022) |
Show all Case Details
Show all Cohort Details
16p13.3
Description:
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
Diagnosis:
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
Asadollahi R , et al. (2014)Cohort Size: 714
Age Min: 12
Age Max: 228
Average: 120
Male: 50
Female: 50
Unknown: -
CNV Size: 147000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
MLPA
Platform: Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.0.1
Algorithm: HMM
Geographical Ancestry: Predominantly European
16p13.3
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: 2400000
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
16p13.3
Description:
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 233
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
16p13.3
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 762
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
16p13.3
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: 2250000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen)
Platform: High-resolution 180K oligoarray
Software: -
Algorithm: -
Geographical Ancestry: Chinese
16p13.3
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: 100
Female: -
Unknown: -
CNV Size: 1058000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
RT-qPCR
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
16p13.3
Description:
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
Diagnosis:
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Chan AJS et al. (2022)Cohort Size: 325
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 6502001
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
Software: ERDS v.1.1, CNVnator v.0.3.2
Algorithm: NA
Geographical Ancestry: Canada
16p13.3
Description:
Nine unrelated patients carrying 16p13.3 microduplications
Diagnosis:
Intellectual disability (ID) confirmed in 7/9 patients (two patients were too young to be evaluated for ID). Additional comorbidities: 3 cases with behavioral problems, 2 cases with ADHD, one case with ASD and ADHD.
Demeer B , et al. (2012)Cohort Size: 9
Age Min: 19
Age Max: 180
Average: 106.55555555556
Male: 78
Female: 22
Unknown: -
CNV Size: 3500000
Deletion: 0
Duplication: 9
Total CNV: 9
Discovery Method:
aCGH, array SNP
Validation Method:
qPCR, FISH, MLPA
Platform: Agilent 44B, BACs aCGH, Affymetrix 250K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: NA
16p13.3
Description:
Individuals with de novo 16p13.3 deletions affecting the SRRM2 gene from an initial cohort of 22 patients with predicted loss-of-function variants in this gene, most of whom were identified by GeneMatcher.
Diagnosis:
Both cases presented with developmental delay (DD), intellectual disability (ID), and features of ADHD; one case also presented with autistic features.
Cuinat S et al. (2022)Cohort Size: 2
Age Min: 84
Age Max: 168
Average: 126
Male: 100
Female: -
Unknown: -
CNV Size: 269040
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina CytoSNP-850K BeadChip
Software: NA
Algorithm: NA
Geographical Ancestry: NA
16p13.3
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: 655970
Deletion: 5
Duplication: 5
Total CNV: 10
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
16p13.3
Description:
Individual carrying a de novo 16p13.3 deletion affecting the CREBBP gene from an initial cohort of six Moroccan patients with Rubinstein-Taybi syndrome presented to the Department of Medical Genetics (Rabat, Morocco).
Diagnosis:
Case presented with developmental delay (DD) and intellectual disability (ID).
Elalaoui SC et al. (2021)Cohort Size: 1
Age Min: 36
Age Max: 36
Average: 36
Male: 100
Female: -
Unknown: -
CNV Size: 97593
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
QMF-PCR
Platform: Agilent 60K Custom
Software: Agilent CytoGenomics v.3.0.1.1
Algorithm: NA
Geographical Ancestry: Morocco
16p13.3
Description:
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 631
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 124945
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
16p13.3
Description:
Replication case samples derived from AGRE sets 1-3
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 593
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 616681
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
16p13.3
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: -
Unknown: 100
CNV Size: 59328
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, WES
Validation Method:
None
Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland
16p13.3
Description:
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
Diagnosis:
All cases diagnosed with ASD
Feliciano P et al. (2019)Cohort Size: 465
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 41779
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
16p13.3
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: 100
Female: -
Unknown: -
CNV Size: 245349
Deletion: 16
Duplication: 2
Total CNV: 18
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: -
16p13.3
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 200000
Deletion: 10
Duplication: 0
Total CNV: 10
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
16p13.3
Description:
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
Diagnosis:
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Gazzellone MJ , et al. (2014)Cohort Size: 104
Age Min: 72
Age Max: 72
Average: 72
Male: -
Female: 100
Unknown: -
CNV Size: 326625
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
qPCR, Taqman assay
Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese
16p13.3
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: 942695
Deletion: 0
Duplication: 3
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
None
Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
16p13.3
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: 185571
Deletion: 1
Duplication: 1
Total CNV: 2
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: -
16p13.3
Description:
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
Diagnosis:
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Iourov IY , et al. (2013)Cohort Size: 54
Age Min: 13
Age Max: 59
Average: 41.166666666667
Male: 83
Female: 17
Unknown: -
CNV Size: 644048
Deletion: 1
Duplication: 5
Total CNV: 6
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian
16p13.3
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: 29
Age Max: 29
Average: 29
Male: 100
Female: -
Unknown: -
CNV Size: 482290
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Low-coverage whole genome sequencing
Software: Illumina BclToFastq
Algorithm: -
Geographical Ancestry: China
16p13.3
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: 3167858
Deletion: 15
Duplication: 17
Total CNV: 32
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
16p13.3
Description:
Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)
Diagnosis:
All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).
Kamien B , et al. (2014)Cohort Size: 3
Age Min: 60
Age Max: 108
Average: 80
Male: 67
Female: 33
Unknown: -
CNV Size: 199000
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
FISH or aCGH (Agilent 15K)
Platform: BlueGnome 60K ISCA array
Software: BlueMulti v.26
Algorithm: -
Geographical Ancestry: N/A
16p13.3
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: 18752
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish
16p13.3
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: 67
Female: 33
Unknown: -
CNV Size: 84222
Deletion: 4
Duplication: 3
Total CNV: 7
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
16p13.3
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: 71
Female: 25
Unknown: 4
CNV Size: 1210978
Deletion: N/A
Duplication: N/A
Total CNV: 19
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
16p13.3
Description:
Epilepsy patients recruited as a concerted effirt of epilepsy genetics programs integrated in the European EPICURE Project screened for RBFOX1 deletions
Diagnosis:
Diagnosis of idiopathic generalized epilepsy: 413 cases with childhood absence epilepsy (CAE), 207 cases with juvenile absence epilepsy (JAE), 7 cases with unspecified idiopathic absence epilepsy (IAE), 557 cases with juvenile myoclonic epilepsy (JME), and 224 cases with epilepsy with generalized tonic-clonic seizures alone (EGTCS). IGE patients with severe intellectual disability not included.
Lal D , et al. (2013)Cohort Size: 1408
Age Min: 36
Age Max: 192
Average: 132
Male: 30
Female: 10
Unknown: 60
CNV Size: 896000
Deletion: 8
Duplication: 0
Total CNV: 8
Discovery Method:
Array SNP
Validation Method:
qPCR
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1.1
Algorithm: -
Geographical Ancestry: Northwestern European
16p13.3
Description:
Index patients with rolandic epilepsy screened for copy number variations in the RBFOX1, RBFOX2, and RBFOX3 genes
Diagnosis:
Diagnosis of rolandic epilepsy performed according to International Classification of Seizures and Epilepsies; 98 index cases from multiplex families, 191 index cases from simplex families.
Lal D , et al. (2013)Cohort Size: 289
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 365000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina Infinium OmniExpress Exome BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Germany
16p13.3
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: 36
Age Max: 168
Average: 93.6
Male: 80
Female: 20
Unknown: -
CNV Size: 913196
Deletion: 0
Duplication: 6
Total CNV: 6
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.3.2.0.1252
Algorithm: -
Geographical Ancestry: Korean
16p13.3
Description:
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
Diagnosis:
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1205
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 30568
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p13.3
Description:
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
Diagnosis:
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 1818
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 274137
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p13.3
Description:
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
Diagnosis:
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I et al. (2022)Cohort Size: 3014
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 582088
Deletion: 9
Duplication: 0
Total CNV: 9
Discovery Method:
aCGH
Validation Method:
qRT-PCR
Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan
16p13.3
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: 50
Female: 50
Unknown: -
CNV Size: 1234322
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
16p13.3
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: -
Female: 100
Unknown: -
CNV Size: 1100000
Deletion: 0
Duplication: 1
Total CNV: 1
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
16p13.3
Description:
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
Diagnosis:
Cases presented with non-specific intellectual developmental delay (DD/ID).
Levchenko O et al. (2022)Cohort Size: 198
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 4933337
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix CytoScan HD, Affymetrix CytoScan XON
Software: NA
Algorithm: NA
Geographical Ancestry: Russia
16p13.3
Description:
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
Diagnosis:
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Mahjani B et al. (2021)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1028404
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden
16p13.3
Description:
Autistic proband enrolled in AGRE (AU077504); proband was previously included in Sebat et al., 2007 CNV report.
Diagnosis:
ASD (diagnosis based on CARS and ADI-R scores)
Martin CL , et al. (2007)Cohort Size: 1
Age Min: 144
Age Max: 144
Average: 144
Male: -
Female: 100
Unknown: -
CNV Size: 160000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
FISH
Validation Method:
qPCR
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: -
16p13.3
Cohort Size: 88
Age Min: 144
Age Max: 144
Average: 144
Male: -
Female: 100
Unknown: -
CNV Size: 160000
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
qPCR
Validation Method:
-
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: -
16p13.3
Description:
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
Diagnosis:
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Mosca SJ , et al. (2016)Cohort Size: 82
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 300291
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina HumanOmni2.5-Quad BeadChip
Software: -
Algorithm: iPattern, PennCNV, QuantiSNP, CNVPartition
Geographical Ancestry: Canada
16p13.3
Description:
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
Diagnosis:
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
Munnich A , et al. (2019)Cohort Size: 502
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 60
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, karyotyping
Validation Method:
FISH
Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France
16p13.3
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: 33552
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
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
16p13.3
Description:
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
Diagnosis:
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
Nguyen LS , et al. (2013)Cohort Size: 57365
Age Min: -
Age Max: -
Average: -
Male: 30
Female: 37
Unknown: 33
CNV Size: 7627598
Deletion: 5
Duplication: 20
Total CNV: 25
Discovery Method:
aCGH
Validation Method:
FISH
Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A
16p13.3
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: 1358743
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WES
Validation Method:
None
Platform: Solid5500xl, IlluminaHiSeq2000
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A
16p13.3
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: 288
Age Max: 288
Average: 288
Male: 100
Female: -
Unknown: -
CNV Size: 28466
Deletion: 0
Duplication: 1
Total CNV: 1
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
16p13.3
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: 100
Female: -
Unknown: -
CNV Size: 1706625
Deletion: 7
Duplication: 2
Total CNV: 9
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
16p13.3
Description:
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
Diagnosis:
Cases diagnosed with ASD
Poultney CS , et al. (2013)Cohort Size: 299
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 186429
Deletion: 4
Duplication: 3
Total CNV: 7
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
16p13.3
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: 44705
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None (not tested or failure to confirm by qPCR)
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
16p13.3
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: 66
Female: 34
Unknown: -
CNV Size: 1252803
Deletion: 84
Duplication: 34
Total CNV: 118
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&
16p13.3
Description:
118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism andDevelopmental Disorders, Vanderbilt University, University of Chicago)
Diagnosis:
Diagnosis of ASD (Autism, broad spectrum , or Asperger syndrome) made by ADI-R & ADOS criteria, syndromic autism cases excluded
Sebat J , et al. (2007)Cohort Size: 195
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 207980
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
ROMA
Validation Method:
390K ROMA, Agilent 244K, G-banded karyotyping, FISH, microsatellite
Platform: -
Software: S-PLUS
Algorithm: HMM
Geographical Ancestry: -
16p13.3
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: 24
Age Max: 84
Average: 54
Male: 100
Female: -
Unknown: -
CNV Size: 45000
Deletion: 2
Duplication: 0
Total CNV: 2
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
16p13.3
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: 1700981
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
16p13.3
Description:
ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
Diagnosis:
Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
Tuncay IO et al. (2022)Cohort Size: 23
Age Min: -
Age Max: -
Average: -
Male: 75
Female: 25
Unknown: -
CNV Size: 1429489
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
WGS
Validation Method:
-
Platform: Illumina HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Middle Eastern, South Asian, and European
16p13.3
Description:
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
Diagnosis:
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Verberne EA et al. (2022)Cohort Size: 331
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 24565
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean
16p13.3
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: 1058142
Deletion: 3
Duplication: 2
Total CNV: 5
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
16p13.3
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: 210999
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
Show all Case Details
Show all Cohort Details
asadollahi_14_NDD_discovery_cases-case43552
Clinical Profile:
Intellectual disability, speech problems, spastic movement disorder, tall stature
Cognitive Profile:
-
Asadollahi R , et al. (2014)Primary Diagnosis: Intellectual disability
Age: 19 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 4996262
CNV End: 5056680
CNV Size: 60419
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NAGPA-AS1, NAGPA, ALG1, C16orf89, SEC14L5
asadollahi_14_NDD_discovery_cases-case71156
Clinical Profile:
Developmental delay, microcephaly, facial dysmorphic features
Cognitive Profile:
-
Asadollahi R , et al. (2014)Primary Diagnosis: Developmental delay
Age: 1 yr.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3738866
CNV End: 3885835
CNV Size: 146970
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
bremer_11_ASD_discovery_cases-case4
Primary Diagnosis: ASD
Age: 6
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 3342370
CNV End: 5702859
CNV Size: 2360490
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, SRL, RBFOX1
celestino-soper_11_ASD_discovery_cases-11399
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2776897
CNV End: 2777130
CNV Size: 234
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11415
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3025857
CNV End: 3025998
CNV Size: 142
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
chen_17_ASD_discovery_cases-caseU-2015
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 3 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 5 (past score 7); Qualitative abnormalities in nonverbal communication, current score 0 (past score 1); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 7); Abnormality of development evident at or before 36 months, past score 0. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 93; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 31. Epilepsy: no history of epilepsy.
Cognitive Profile:
Performance IQ 109, Verbal IQ 105, Full-scale IQ 107
Chen CH , et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5892658
CNV End: 6950799
CNV Size: 1058142
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-99P, RNU6-457P, RBFOX1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3983
Clinical Profile:
Mild intellectual disability, multiple congenital anomalies (MCA), blepharophimosis, dysmorphic features. Family history: none reported.
Cognitive Profile:
Mild intellectual disability
Chong WW , et al. (2014)Primary Diagnosis: Intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (negative family history)
CNV Start: 2955167
CNV End: 5205794
CNV Size: 2250628
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex (negative family history)
Genome Build: GRCh38
Gene Content: PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, CASP16P, SRL
deemer_12_DD/ID_discovery_cases-patient1
Clinical Profile:
Birth/neonatal history: delivered by C-section at 39 weeks; birth weight 25th-50th %ile, length 9th-25th %ile, head circumference 90th %ile; neonatal examination showed bilateral pes calcaneovalgus and left ptosis. Developmental milestones: walking at 15-16 months. Language and communication evaluation: N/A. Motor and musculoskeletal evaluation: developed bilateral pes cavovarus from age 11, with signs of disturbed peripheral circulation with areflexia pf lower limbs also noted; mild pectus excavatum, proximal placement of thumbs. Behavioral/psychiatric evaluation: ADHD. Other features: inguinal hernia repaired at age of 5 years. Dysmorphic features: small and upslanting palpebral fissures with epicanthus, ptosis of left eye, right strabismus, midface hypoplasia, hyperconvex fingernails and toenails. Growth parameters: normal growth at 13.5 years [height of 157 cm (25th-50th %ile) and weight of 42 kg (25th-50th %ile)]. Family history: only child of healthy unrelated parents of Swedish origin; unremarkable family history.
Cognitive Profile:
Mild intellectual disability (FSIQ of 54; verbal IQ of 79)
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and ADHD
Age: 13.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3711911
CNV End: 3955520
CNV Size: 243610
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP, ADCY9
deemer_12_DD/ID_discovery_cases-patient2
Clinical Profile:
Birth/neonatal history: born at gestational age of 39 weeks after uneventful pregnancy; birth weight 2nd %ile, lenght <0.4th %ile, head circumference 25th %ile; neonatal examination showed bilateral inguinal hernia and facial dysmorphism; bronchotrachomalacia diagnosed at 2 weeks; cardiac ultrasound detected dextrocardia. Developmental milestones: able to walk unaided from 18 months. Language and communication evaluation: poor speech (<5 words). Motor and musculoskeletal evaluation: relative facial hypotonia; fingers tended to stay in a flexed but not fixed position; distal flexion creases of fingers iV and V absent; hypoplasia of middle and distal phalanges of finger V. Behavioral/psychiatric evaluation: alert child, good eye contact. Dysmorphic features: midface hypoplasia, short nose with anteverted nares, long philtrum, slightly upslanted palpebral fissures, thin blond hair, thin translucent skin, high forehead with cowlick, short hypoplastic nose, low set and posteriorly rotated ears, short neck, hypoconvex toenails. Growth parameters:. Family history: second child of healthy unrelated parents.
Cognitive Profile:
-
Demeer B , et al. (2012)Primary Diagnosis: Developmental delay
Age: 19 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Possible simplex
CNV Start: 3656247
CNV End: 4041020
CNV Size: 384774
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Possible simplex
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1, CREBBP, ADCY9
deemer_12_DD/ID_discovery_cases-patient3
Clinical Profile:
First seen at genetic department at 22 months of age due to facial dysmorphism and psychomotor delay. Birth/neonatal history: uneventful pregnancy; birth weight 50th %ile, birth length 75th %ile, head circumference 25th %ile, Apgar score 10/10; neonatal exam showed cleft palate and microganthia, dysmorphic facial features and bilateral talus valgus which regressed with help of splint and physiotherapy; divergent strabismus noted at 9 months. Developmental milestones: sat at 10 months of age, walked at 21 months. Language and communication evaluation: speech delay, vocabulary of only 3 words. Motor and musculoskeletal evaluation: short, rather proximally implanted thumbs, clinodactyly of 5th fingers, halluces large and in a varus position. Behavioral/psychiatric evaluation: no behavioral problems or sleep disturbances. Dysmorphic features: bilateral epicanthi, small and slightly upslanting palpebral fissures, thick alae nasi, small nares, midface hypoplasia, micrognathia, hyperconvex fingernails. Growth parameters: normal; weight of 12 kg (50th %ile), lenght of 87 cm (50th-75th %ile), and head circumference of 48.5 cm (9th-25th %ile) at 22 months. Family history: first child of healthy unrelated parents; unremarkable family history.
Cognitive Profile:
-
Demeer B , et al. (2012)Primary Diagnosis: Developmental delay
Age: 22 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3676605
CNV End: 4865282
CNV Size: 1188678
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SRL
deemer_12_DD/ID_discovery_cases-patient4
Clinical Profile:
Birth/neonatal history: uneventful pregnancy, born at gestational age of 39 weeks; birth weight 25th-50th %ile, length 50th %ile, head circumference 25th %ile; right ptosis noted on neonatal examination (surgically repaired). Developmental milestones: speech delay noted at 2.5 years; otherwise in normal range with walking at 17 months and daytime toilet training from 2 years. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: relative facial hypotonia; short and proximally set thumbs, increased space between hallux & 2nd toe, right II clinodactyly, II-III bilateral syndactyly. Behavioral/psychiatric evaluation: diagnosed with ADHD. Dysmorphic features: high and broad forehead, telecanthus with small and upslanting palpebral fissures, bilateral epicanthi, midface hypoplasia, rather small nostrils, large uvula. Growth parameters: height of 122 cm (91st %ile), height of 22.6 kg (75th %ile), and head circumference of 51 cm (50th %ile) at 6 years. Family history: only child of healthy unrelated parents with an unremarkable family history; 4 half-siblings on mother's side.
Cognitive Profile:
Moderate intellectual disability (predominant on language side)
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and ADHD
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2773439
CNV End: 4084808
CNV Size: 1311370
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, CASP16P
deemer_12_DD/ID_discovery_cases-patient5
Clinical Profile:
Birth/neonatal history: born at term but was of lower birth weight (~2.7 kg) than healthy siblings (3.3-3.6 kg), no nails on halluces until age of 18 months. Developmental milestones: delayed milestones; walked at 2.5 years. Language and communication evaluation: since age of 4 years case has used occasional single words but primarily communicates via Makaton sign langugae; receptive language better than expressive language. Motor and musculoskeletal evaluation:. Behavioral/psychiatric evaluation:. Other features: mild sensorineural hearing loss on right and profound-to-moderate hearing loss on left side (wears a hearing aid); localized dilation of sinus of Valsalva noted. Dysmorphic features: cleft palate (repaired at 5 years), hypoplastic midface, depressed nasal bridge, prominent rather simple ears with very small ear canals. Growth parameters: normal; height 25th %ile, weight 9th-25th %ile, OFC 9th-25th %ile. Family history: second child of healthy unrelated parents from South East Asia; three siblings developing normally.
Cognitive Profile:
Moderate-severe learning disability
Demeer B , et al. (2012)Primary Diagnosis: Developmental delay/intellectual disability
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3714779
CNV End: 5236856
CNV Size: 1522078
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, SRL
deemer_12_DD/ID_discovery_cases-patient6
Clinical Profile:
Birth/neonatal history: born after uneventful pregnancy; birth weight 25th %ile, length 50th %ile, head circumferecne 9th %ile; facial dysmorphism and adducted hypoplastic thumbs noted at birth; feeding problems during first three months of life. Developmental milestones: delayed psychomotor development, sitting at 9 months, walking at 2.5 years; severely delayed speech; day-toilet training at 5 years. Language and communication evaluation: nasal speech, able to say a few, partly incomprehensible words. Motor and musculoskeletal evaluation: short and proximally set thumbs, ankle flexion limited predominantly on right side, right pes cavus. Behavioral/psychiatric evaluation: behavioral problems (frequent fits of anger, hyperactivity), no sleep disturbances. Other features:. Dysmorphic features: high and broad forehead, high nasal bridge, bilateral ptosis, telecanthus, very short palpebral fissures, anteversion of nostrils, slightly protruding and low-set ears, bifid uvula, short neck, hyperconvex fingernails. Growth parameters: weight of 17.2 kg (50th %ile), height of 112 cm (75th %ile), and head circumference of 50 cm (9th %ile) at 5 years of age. Family history: second child of healthy unrelated parents; unremarkable family history.
Cognitive Profile:
Moderate intellectual disability (verbal IQ 44 and performance IQ 56 on WPPSI-III evaluation)
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and behavioral problems
Age: 7.5 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2586802
CNV End: 4961718
CNV Size: 2374917
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, CASP16P, SRL
deemer_12_DD/ID_discovery_cases-patient7
Clinical Profile:
Birth/neonatal history: born at gestational age of 38.5 weeks after uneventful pregnancy; birth weight 2nd %ile, birth length 0.4th %ile, head circumference 5th %ile; bilateral talus valgus noted and treated by splint and physiotherapy; relative macrocephaly at 22 months (head circumference of 53.5 cm/97th %ile). Developmental milestones: speech delay; sat at 12 months, walked at 18.5 months, day-toilet trained at 4 years. Language and communication evaluation: language impairment more severe on comprehensive than on expressive language; not yet able to associate words. Motor and musculoskeletal evaluation: proximally implanted and addcuted thumbs, moderate hyperlaxity of large joints. Behavioral/psychiatric evaluation: marked behavioral problems, including destructive behavior and temper tantrums; no sleep disturbances. Brain imaging: lacunae around corpus callosum detected by MRI. Dysmorphic features: high forehead, telecanthus, epicanthal folds. Growth parameters: normal growth, with weight of 25 kg (50th %ile) and height of 131 cm (75th %ile). Family history: born to healthy, unrelated parents.
Cognitive Profile:
Moderate intellectual disability
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and behavioral problems
Age: 8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 929681
CNV End: 3974887
CNV Size: 3045207
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, PKD1, CASP16P
deemer_12_DD/ID_discovery_cases-patient8
Clinical Profile:
Patient referred to genetic department at age of 10 months for facial dysmorphism and moderate global pscyhomotor delay. Birth/neonatal history: uneventful pregnancy, cleft palate (surgically corrected at 20 months of age), neonatal hypotonia; surgery required at 8 months for strangulated inguinal hernia. Developmental milestones: moderate global psychomotor delay; growth delay (weight 0.4th %ile, height <0.4th %ile, head circumference 50th %ile); wlaked at 4 years of age, toilet-trained at 6 years. Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: short and proximally set thumbs, long fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: behavioral problems diagnosed as ADHD and ASD. Other features: admitted to ICU at age of 9 years due to epileptic status and hepatitis, probably from toxic origin. Dysmorphic features: bilateral ptosis and blpeharophimosis, bilateral epicanthal folds, convergent strabismus, flat and broad nasal bridge, anteverted nares, closed anterior fontanel, hypospadias, bialteral ectopic testis, short neck, dolichocephaly, bitemporal narrowing, retrognathia. Growth parameters: weight of 25.9 kg (25th %ile) and height of 1.30 m (25th %ile). Family history: eldest of two children born from healthy unrelated parents; patient's sister presents with mild intellectual disability and facial dysmorphism; patient's father has a sister with intellectual disability and a brother with two children with intellectual disability.
Cognitive Profile:
Moderate intellectual disability
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and ASD
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex (sister with mild ID)
CNV Start: 1335174
CNV End: 4822899
CNV Size: 3487726
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex (sister with mild ID)
Genome Build: GRCh38
Gene Content: TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, PKD1, CASP16P, SRL
deemer_12_DD/ID_discovery_cases-patient9
Clinical Profile:
Referred to genetic department at age of 7 years for intellectual disability and behavioral problems. Birth/neonatal history: birth weight and lenght both 50th %ile, head circumference 75th %ile; neonatal examination showed bilateral inguinal hernia, cleft plate, and micrognathia. Developmental milestones: walked at 18 months. Language and communication evaluation: poor vocabulary with only a few words. Motor and musculoskeletal evaluation: long fingers, clinodactyly of fingers II, camptodactyly of fingers IV, proximally implanted thumbs. Behavioral/psychiatric evaluation: marked behavioral problems with inappropriate social behaviors. Brain imaging: normal. Dysmorphic features: round and flat face, small and upslanting palpebral fissures, bilateral ptosis, divergent strabismus, broad nose, thick alae nasi, thin upper lip, microretrognathia, cleft palate (repaired), short neck, hypopigmented skin and hair, retinal depigmentation. Growth parameters: height of 151 cm (50th %ile) and weight of 42 kg (50th %ile) at 12.5 years. Family history: adopted; parents unavailable for testing and family history not available.
Cognitive Profile:
Mild-moderate intellectual disability
Demeer B , et al. (2012)Primary Diagnosis: Intellectual disability and behavioral problems
Age: 12.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1334174
CNV End: 4823099
CNV Size: 3488926
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, PKD1, CASP16P, SRL
engchuan_15_ASD_discovery_cases-case13204_883
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: 774098
CNV End: 855016
CNV Size: 80919
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, MSLNL, RPUSD1, LMF1
engchuan_15_ASD_discovery_cases-case14116_2080
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: 5322480
CNV End: 5978450
CNV Size: 655971
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8065, LINC01570, RBFOX1
engchuan_15_ASD_discovery_cases-case14329_4430
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: 2585106
CNV End: 2630476
CNV Size: 45371
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PDPK1, PDPK2P
engchuan_15_ASD_discovery_cases-case14338_4520
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: 675335
CNV End: 1134967
CNV Size: 459633
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, RPUSD1, LMF1
engchuan_15_ASD_discovery_cases-case14370_4830
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: 4898935
CNV End: 5157301
CNV Size: 258367
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, SEC14L5, ENPP7P14
engchuan_15_ASD_discovery_cases-case16079_1571066001
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: 3013263
CNV End: 3052208
CNV Size: 38946
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, BICDL2, MMP25-AS1, MMP25
engchuan_15_ASD_discovery_cases-case18085_302
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3209823
CNV End: 3349012
CNV Size: 139190
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OR1F2P, LINC00921, TIGD7, ZNF200, MEFV, ZNF75A, ZNF263
engchuan_15_ASD_discovery_cases-case3576_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: 2848355
CNV End: 2951034
CNV Size: 102680
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PRSS22, RPL23AP86, FLYWCH1, FLYWCH2
engchuan_15_ASD_discovery_cases-case4224_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: 4941053
CNV End: 5095229
CNV Size: 154177
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, SEC14L5
engchuan_15_ASD_discovery_cases-case4430_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: 1623187
CNV End: 1715231
CNV Size: 92045
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CRAMP1, JPT2, MAPK8IP3
fitzgerald_14_ASD/DD/ID_discovery_cases-case000010
Clinical Profile:
Clinical profile N/A; CNV from Supplementary Table S14
Cognitive Profile:
N/A
Deciphering Developmental Disorders Study (2014)Primary Diagnosis: N/A
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 234431
CNV End: 293758
CNV Size: 59328
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RGS11, PDIA2, ARHGDIG, AXIN1, FAM234A
gai_11_ASD_discovery_cases-AU1091304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5059873
CNV End: 5174056
CNV Size: 114184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ALG1, FAM86A
gai_11_ASD_discovery_cases-AU1091304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6072599
CNV End: 6197543
CNV Size: 124945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1091306
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6072599
CNV End: 6197543
CNV Size: 124945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_discovery_cases-AU1601302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2924869
CNV End: 2963606
CNV Size: 38738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: FLYWCH1, KREMEN2, PAQR4, PKMYT1
gai_11_ASD_replication_cases-AU011005
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3053899
CNV End: 3670579
CNV Size: 616681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: IL32, ZSCAN10, MGC3771, ZNF205, ZNF213, OR1F1, OR1F2P, ZNF200, MEFV, ZNF263, TIGD7, ZNF75A, OR2C1, ZNF434, ZNF174, ZNF597, NAT15, C16orf90, CLUAP1, NLRC3, BTBD12, DNASE1, TRAP1
gai_11_ASD_replication_cases-AU038304
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5124912
CNV End: 5211023
CNV Size: 86112
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gai_11_ASD_replication_cases-AU0934302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5124912
CNV End: 5430856
CNV Size: 305945
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -
gazzellone_14_ASD_discovery_cases-case517-3
Clinical Profile:
ASD; no other clinical information provided
Cognitive Profile:
N/A
Gazzellone MJ , et al. (2014)Primary Diagnosis: ASD
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 793861
CNV End: 1112728
CNV Size: 318868
Validation Description: qPCR or Taqman assay
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, SSTR5, C1QTNF8, LMF1-AS1, SOX8, SSTR5-AS1, LMF1
gazzellone_14_ASD_discovery_cases-case517-3
Clinical Profile:
ASD; no other clinical information provided
Cognitive Profile:
N/A
Gazzellone MJ , et al. (2014)Primary Diagnosis: ASD
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2038390
CNV End: 2365015
CNV Size: 326626
Validation Description: qPCR or Taqman assay
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, E4F1, ABCA17P, PKD1
girirajan_11_ASD_discovery_cases-Si147
Clinical Profile:
ADOS score: 6. Vineland composite score: 67.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 47; Non-verbal IQ, 60.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 854582
CNV End: 1324688
CNV Size: 470107
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, LMF1, CACNA1H, UBE2I
girirajan_11_ASD_discovery_cases-Si304
Clinical Profile:
ADOS score: 7. Vineland composite score: 68.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 48; Non-verbal IQ, 94.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 585396
CNV End: 1358325
CNV Size: 772930
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I
girirajan_12_ASD/DD/ID_discovery_cases-case0842
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0843
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0844
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0845
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0846
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0847
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0848
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0849
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0850
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_12_ASD/DD/ID_discovery_cases-case0851
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3699998
CNV End: 3899998
CNV Size: 200001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
girirajan_13b_ASD_discovery_cases-16709111253
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 551637
CNV End: 1123388
CNV Size: 571752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, WDR90, RPUSD1, LMF1
girirajan_13b_ASD_discovery_cases-25209111475
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 382482
CNV End: 1123388
CNV Size: 740907
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, WDR90, RPUSD1, LMF1
girirajan_13b_ASD_discovery_cases-9505103679
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 281640
CNV End: 1224335
CNV Size: 942696
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, WDR90, RPUSD1, LMF1, CACNA1H
iourov_12_ASD/ID/EP_discovery_cases-case11
Clinical Profile:
Autism, speech delay, syndactyly
Cognitive Profile:
Mild intellectual disability
Iourov IY , et al. (2013)Primary Diagnosis: Autism and intellectual disability
Age: 4 yrs. 3 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 705100
CNV End: 1044049
CNV Size: 338950
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, RPUSD1, LMF1
iourov_12_ASD/ID/EP_discovery_cases-case13
Clinical Profile:
Speech delay, seizures, macrocephaly, congenital heart defect, optic nerve atrophy, facial dysmorphisms. Karyotype: 9phqh.
Cognitive Profile:
Cognitive delay
Iourov IY , et al. (2013)Primary Diagnosis: Epilepsy and developmental delay
Age: 4 yrs. 7 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 546000
CNV End: 726000
CNV Size: 180001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, WDR90
iourov_12_ASD/ID/EP_discovery_cases-case17
Clinical Profile:
Speech delay, microcephaly, hypertelorism, syndactyly. Karyotype: 1phqh, 1qh+.
Cognitive Profile:
Intellectual disability
Iourov IY , et al. (2013)Primary Diagnosis: Intellectual disability
Age: 4 yrs. 11 mos.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2091101
CNV End: 2277411
CNV Size: 186311
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, E4F1, PKD1
iourov_12_ASD/ID/EP_discovery_cases-case22
Clinical Profile:
Congenital heart disease (long QT syndrome). Karyotype: 9phqh, 22ps.
Cognitive Profile:
Severe developmental delay
Iourov IY , et al. (2013)Primary Diagnosis: Developmental delay
Age: 1 yr 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 460000
CNV End: 1104048
CNV Size: 644049
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, WDR90, RPUSD1, LMF1
iourov_12_ASD/ID/EP_discovery_cases-case23
Clinical Profile:
Facial dysmorphisms, high-arched palate, congenital dislocation of the hip. Karyotype: 1phqh.
Cognitive Profile:
Developmental delay/intellectual disability
Iourov IY , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 764190
CNV End: 912809
CNV Size: 148620
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MSLN, MIR662, CHTF18, GNG13, MSLNL, RPUSD1, LMF1
iourov_12_ASD/ID/EP_discovery_cases-case24
Clinical Profile:
Optic nerve hypoplasia
Cognitive Profile:
Developmental delay
Iourov IY , et al. (2013)Primary Diagnosis: Developmental delay
Age: 1 yr. 9 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3542260
CNV End: 3733072
CNV Size: 190813
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NLRC3, SLX4, DNASE1, TRAP1, CREBBP
itsara_10_ASD_discovery_cases-HI1704
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 5994486
CNV End: 6180057
CNV Size: 185572
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
itsara_10_ASD_discovery_cases-HI5473
Primary Diagnosis: Autism
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 1757779
CNV End: 1804539
CNV Size: 46761
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NME3, MRPS34, EME2, IGFALS, MAPK8IP3, SPSB3, NUBP2, HAGH
kamien_14_ASD_discovery_cases-case1
Clinical Profile:
Formal assessment at age of 5 years using ADOS and ADI-R supported a DSM-IV-TR criteria diagnosis of pervasive developmental disorder-not otherwise specificed (PDD-NOS). Birth/neonatal history: born at 40 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.60 kg (AGA). Developmental milestones: slow developmental progress, particularly speech delay, noted at age of 2 years. Behavioral/psychiatric evaluation: reduced social understanding, features of separation anxiety, generalized anxiety including nail biting and trichotillomania, sensitivity to loud noises, tactile defensiveness, rituals, need for routine, poor attention. Other features: recurrent acute and chronic otitis media requiring grommet insertion at age of 2 years and 4 years (formal hearing assessment after 2nd set of grommets was normal); normal investigations for urine amino acid, organic acid and glycosaminoglycan profiles, and fragile X analysis. Dysmorphic features: mildly downslanting palpebral fissures, autoimmune vitiligo. Growth parameters: height of 112 cm (25th %ile), weight of 20.5 kg (75th %ile), and head circumference of 52.4 cm (75th %ile) at age of 6 years. Family history: father (positive for 16p13.3/RBFOX1 duplication) reported to have mild learning difficulties (no access to further phenotypic information); paternal half-sister (negative for 16p13.3/RBFOX1 duplication) with apparently normal intellect; 10-month-old paternal half-brother (positive for 16p13.3/RBFOX1 duplication) currently meeting developmental milestones.
Cognitive Profile:
Weschler Preschool and Primary Scale of Intelligence; third edition (WPPSI-3) assessment at age of 5 years showed verbal IQ of 54 (0.1 %ile) and nonverbal/visual skills of 44 (<0.1 %ile), giving a full scale assessment of 49 in the moderate developmental delay range.
Kamien B , et al. (2014)Primary Diagnosis: ASD
Age: 6 yrs.
Gender: F
Primary Disorder Inheritence: Possibly paternal
Family Profile: Possibly multi-generational
CNV Start: 6099355
CNV End: 6298680
CNV Size: 199326
Validation Description: FISH or aCGH (Agilent 15K)
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Possibly multi-generational
Genome Build: GRCh38
Gene Content: -
kamien_14_ASD_discovery_cases-case2
Clinical Profile:
Diagnosis of autistic disorder made using ADOS, ADI-R, and DSM-IV-TR criteria performed at age of 4 years, 6 months. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.33 kg (AGA). Developmental milestones: concerns raised at age of 18 months for speech delay. Behavioral/psychiatric evaluation: anxiety and sensory issues. Other features: normal investigations including fragile X testing and urine metabolic screening. Dysmorphic features: relatively smooth philtrum. Growth parameters: height of 118 cm (97th %ile), weight of 15.0 kg (10th %ile), and head circumference of 51.0 cm (50th %ile) at age of 5 years. Family history: father (positive for 16p13.3/RBFOX1 deletion) with no medical conditions and no reported learning difficulties or social difficulties; maternal and paternal relatives reported ro have significant learning difficulties or ASD, but no testing data available.
Cognitive Profile:
Griffith's Developmental assessment at age of 5 years showed cognitive performance of approximately 4 years, 9 months (i.e. within lower end of average range of functioning).
Kamien B , et al. (2014)Primary Diagnosis: ASD
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 6922276
CNV End: 7003841
CNV Size: 81566
Validation Description: FISH or aCGH (Agilent 15K)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -
kamien_14_ASD_discovery_cases-case3
Clinical Profile:
Case met DSM-IV-TR criteria for autistic disorder; additional clinical diagnoses of ADHD, oppositional defiant disorder (ODD), and anxiety. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy (mother took the antidepressant venlafaxine during pregnancy); birth weight of 3.1 kg (AGA). Developmental milestones: history of developmental regression with reduced academic functioning, loss of toilet training, and increased aggression between ages of 7 and 9 years; developmental regression has not continued. EEG: sleep-deprived EEG within normal ranges. Brain imaging: cerebral MRI within normal ranges. Other features: normal ophthalmology review; investigations into serum glucose, lactate, ammonia, creatine kinase, thyroid function, amino acids, transferrin isoforms, 7-dehydrocholestrol, very long chain fatty acids analysis, white cell enzymes, urune amino acid, organic acid profile, glycosaminoglycan screen, creatine studies, and purine/pyrimidine analysis within normal ranges. Dysmorphic features: large frontal incisors. Growth parameters: height of 144 cm (90th %ile), weight of 43 kg (95th %ile), and head circumference of 53.2 cm (50th %ile) at age of 9 years. Family history: mother (positive for 16p13.3/RBFOX1 deletion) with self-reported diagnoses of ADHD, dyslexia, learning difficulties, and mild ASD traits with difficulties in social settings (diagnoses have not been formally assessed); one sister with clinical diagnosis of osteogenesis imperfecta; another sister (negative for 16p13.3/RBFOX1 deletion) with clinical diagnosis of Asperger syndrome and ADHD.
Cognitive Profile:
Assessment at age of 9 years using Wechsler Intelligence Scale for Chidren (WISC-IV) showed full-scale IQ score of 79 (8th %ile); in borderline range.
Kamien B , et al. (2014)Primary Diagnosis: ASD, ADHD, ODD
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal
Family Profile: Possibly multi-generational
CNV Start: 6168639
CNV End: 6244159
CNV Size: 75521
Validation Description: FISH or aCGH (Agilent 15K)
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Possibly multi-generational
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000509
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2046988
CNV End: 2060016
CNV Size: 13029
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTHL1, TSC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000936
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 165725
CNV End: 180586
CNV Size: 14862
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: HBA2, HBA1, HBQ1, HBM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000940
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3710449
CNV End: 4644951
CNV Size: 934503
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC01569, SUB1P3, UBALD1, RN7SL850P, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, SRL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001069
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 4490463
CNV End: 4815780
CNV Size: 325318
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, C16orf96, ANKS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 129081
CNV End: 168972
CNV Size: 39892
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: HBZ, HBM, HBZP1, NPRL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001258
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46766
CNV End: 168972
CNV Size: 122207
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, POLR3K, RHBDF1, MPG, HBM, HBZP1, NPRL3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001619
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 29941
CNV End: 2560460
CNV Size: 2530520
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001697
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3493167
CNV End: 3993345
CNV Size: 500179
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: C16orf90, NLRC3, SLX4, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001753
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3680455
CNV End: 3741327
CNV Size: 60873
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TRAP1, CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001808
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46766
CNV End: 3214623
CNV Size: 3167858
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, PKD1, CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002144
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1278821
CNV End: 1919148
CNV Size: 640328
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, UBE2I, CCDC154, IFT140, FAHD1, MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002281
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1816283
CNV End: 2020966
CNV Size: 204684
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, FAHD1, MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002287
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3861794
CNV End: 3904192
CNV Size: 42399
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002348
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3750305
CNV End: 3769722
CNV Size: 19418
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002474
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 5959600
CNV End: 6121461
CNV Size: 161862
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002510
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 239680
CNV End: 589745
CNV Size: 350066
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, FAM234A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002523
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 23141
CNV End: 1773349
CNV Size: 1750209
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002557
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1221651
CNV End: 2233773
CNV Size: 1012123
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003801
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3607087
CNV End: 3877320
CNV Size: 270234
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLX4, DNASE1, TRAP1, CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004078
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 152050
CNV End: 180589
CNV Size: 28540
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: HBZ, HBA2, HBA1, HBQ1, HBM, HBZP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004096
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2494804
CNV End: 3246579
CNV Size: 751776
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004122
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 105429
CNV End: 1499893
CNV Size: 1394465
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004216
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2089647
CNV End: 2096105
CNV Size: 6459
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1225, PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004357
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2786223
CNV End: 2913719
CNV Size: 127497
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORA3C, EIF1P4, PRSS30P, PRSS22, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, FLYWCH2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004422
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3665835
CNV End: 3727120
CNV Size: 61286
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1, CREBBP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004578
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46766
CNV End: 1997582
CNV Size: 1950817
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004596
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2089462
CNV End: 2092132
CNV Size: 2671
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1225, TSC2, PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004832
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 23141
CNV End: 1712523
CNV Size: 1689383
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004867
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2717952
CNV End: 4041020
CNV Size: 1323069
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, CASP16P
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004871
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2089462
CNV End: 2092132
CNV Size: 2671
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1225, TSC2, PKD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004919
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 46566
CNV End: 1800860
CNV Size: 1754295
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005347
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2326840
CNV End: 3487106
CNV Size: 1160267
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CASP16P
kanduri_15_ASD_discovery_cases-case1912
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 7757373
CNV End: 7776124
CNV Size: 18752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
kanduri_15_ASD_discovery_cases-case1983
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3707747
CNV End: 3718848
CNV Size: 11102
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DNASE1, TRAP1
kanduri_15_ASD_discovery_cases-case2973
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3707747
CNV End: 3718728
CNV Size: 10982
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: DNASE1, TRAP1
krumm_13_ASD_discovery_cases-case11118.p1
Clinical Profile:
ASD proband from SSC quad family 11118. SRS score of 80.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 93.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4821379
CNV End: 4821597
CNV Size: 219
Validation Description: Solid phase hybridization (Illumina 1M) (not tested by aCGH)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_cases-case12735.p1
Clinical Profile:
ASD proband from SSC quad family 12735. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 55.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_13_ASD_discovery_cases-case12826.p1
Clinical Profile:
ASD proband from SSC quad family 12826. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 66.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 404955
CNV End: 411578
CNV Size: 6624
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NME4, DECR2
krumm_13_ASD_discovery_cases-case13018.p1
Clinical Profile:
ASD proband from SSC quad family 13018. SRS score of 76.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 78.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4574971
CNV End: 4592367
CNV Size: 17397
Validation Description: Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_cases-case13398.p1
Clinical Profile:
ASD proband from SSC quad family 13398. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 75.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2966324
CNV End: 3050546
CNV Size: 84223
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, KREMEN2, BICDL2, MMP25-AS1, MMP25
krumm_13_ASD_discovery_cases-case13512.p1
Clinical Profile:
ASD proband from SSC quad family 13512. SRS score of 83.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 110.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4340318
CNV End: 4341504
CNV Size: 1187
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PAM16, CORO7-PAM16
krumm_15_ASD_discovery_cases-case11296.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3029544
CNV End: 3050144
CNV Size: 20601
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: BICDL2, MMP25-AS1, MMP25
krumm_15_ASD_discovery_cases-case11417.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: N/A
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2054295
CNV End: 2055521
CNV Size: 1227
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11435.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 47429
CNV End: 1258406
CNV Size: 1210978
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H
krumm_15_ASD_discovery_cases-case11464.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3655373
CNV End: 3666118
CNV Size: 10746
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
krumm_15_ASD_discovery_cases-case11981.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1857734
CNV End: 1862118
CNV Size: 4385
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12370.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1781357
CNV End: 1809833
CNV Size: 28477
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: EME2, IGFALS, SPSB3, NUBP2, HAGH
krumm_15_ASD_discovery_cases-case12404.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2948687
CNV End: 3050144
CNV Size: 101458
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25
krumm_15_ASD_discovery_cases-case12826.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 404955
CNV End: 411578
CNV Size: 6624
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NME4, DECR2
krumm_15_ASD_discovery_cases-case12931.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3057309
CNV End: 3069355
CNV Size: 12047
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_15_ASD_discovery_cases-case13018.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4571560
CNV End: 4594803
CNV Size: 23244
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13065.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 763232
CNV End: 775664
CNV Size: 12433
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MSLN, MIR662, MSLNL
krumm_15_ASD_discovery_cases-case13398.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2979602
CNV End: 3030597
CNV Size: 50996
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PKMYT1, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, BICDL2
krumm_15_ASD_discovery_cases-case13412.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 768647
CNV End: 813861
CNV Size: 45215
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MSLN, MIR662, CHTF18, GNG13, MSLNL, RPUSD1
krumm_15_ASD_discovery_cases-case13812.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3655373
CNV End: 3666118
CNV Size: 10746
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
krumm_15_ASD_discovery_cases-case13861.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 7518146
CNV End: 7597453
CNV Size: 79308
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13973.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_15_ASD_discovery_cases-case14170.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_15_ASD_discovery_cases-case14247.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 377036
CNV End: 406397
CNV Size: 29362
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TMEM8A, NME4, DECR2
krumm_15_ASD_discovery_cases-case14343.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
lal_13_EP_discovery_cases-caseAo2023
Primary Diagnosis: Epilepsy
Age: NA
Gender: NA
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: GRCh37
Gene Content: -
lal_13_EP_discovery_cases-caseD07u0680
Clinical Profile:
Diagnosis of juvenile myoclonic epilepsy. Myoclonic seizures and generalized tonic-clonic seizures, age at onset of 16 years. Family history: proband's affected mother (epilepsy with generalized tonic-clonic seizures alone) and affected brother (epilepsy with generalized tonic-clonic seizures alone, as well as pervasive developmental disorder/PDD and learning disability) do not carry RBFOX1 deletion.
Cognitive Profile:
Learning disability
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: 16 yrs.
Gender: M
Primary Disorder Inheritence: Possibly maternal
Family Profile: Multiplex
CNV Start: 6984999
CNV End: 7087999
CNV Size: 103001
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-328P, RBFOX1
lal_13_EP_discovery_cases-caseD07u5024
Primary Diagnosis: Epilepsy
Age: NA
Gender: NA
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: GRCh37
Gene Content: -
lal_13_EP_discovery_cases-caseE103
Clinical Profile:
Epilepsy/seizures: rolandic epilepsy; nocturnal generalized tonic-clonic seizures; postictal speech arrest. Developmental milestones: normal global development, normal speech acquisition. Family history: sibling with clonic-tonic seizures (EEG trait only), normal global development, and normal speech acquisition.
Cognitive Profile:
Normal global development
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: N/A
CNV End: N/A
CNV Size: 365000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh37
Gene Content: -
lal_13_EP_discovery_cases-caseEG0369
Clinical Profile:
Diagnosis of childhood absence epilepsy. Absence seizures, age at onset of 3 years; generalized tonic-clonic seziures, age at onset of 7 years. Other features: neurodevelopmental problems with delayed speech and attention and memory problems. Family history: both the proband's affected mother (childhood absence epilepsy) and decreased maternal uncle (juvenile myoclonic epilepsy) carried RBFOX1 deletion; proband's unaffected brother not tested for RBFOX1 deletion.
Cognitive Profile:
Learning disability
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 5565999
CNV End: 6461999
CNV Size: 896001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8065, LINC01570, RBFOX1
lal_13_EP_discovery_cases-caseEG0395
Clinical Profile:
Diagnosis of childhood absence epilepsy. Absence seizures and generalized tonic-clonic seziures, age at onset of 3 years. Family history: no neuropsychiatric disorders.
Cognitive Profile:
-
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 6658999
CNV End: 6823999
CNV Size: 165001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-99P, RBFOX1
lal_13_EP_discovery_cases-caseEP1613
Clinical Profile:
Diagnosis of juvenile absence epilepsy. Febrile seizures, age at onset of 1 year; absence seizures and generalized tonic-clonic seizures, age at onset of 15 years. Family history: proband's affected mother (childhood absence epilepsy) and unaffected brother carry RBFOX1 deletion.
Cognitive Profile:
-
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: 15 yrs.
Gender: M
Primary Disorder Inheritence: Maternal
Family Profile: Simplex
CNV Start: 6746999
CNV End: 6814999
CNV Size: 68001
Validation Description: qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-99P, RBFOX1
lal_13_EP_discovery_cases-caseEZ741
Primary Diagnosis: Epilepsy
Age: NA
Gender: NA
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: GRCh37
Gene Content: -
lal_13_EP_discovery_cases-caseL2364
Clinical Profile:
Diagnosis of juvenile myoclonic epilepsy. Myoclonic seizures and generalized tonic-clonic seizures, age at onset of 14 years. Family history: no neuropsychiatric disorders.
Cognitive Profile:
-
Lal D , et al. (2013)Primary Diagnosis: Epilepsy
Age: 14 yrs.
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6243999
CNV End: 6343999
CNV Size: 100001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
lee_17_ASD/DD/ID/MCA_discovery_cases-case17
Clinical Profile:
Multiple neuromuscular problems
Cognitive Profile:
Intellectual disability
Lee SH and Song WJ (2017)Primary Diagnosis: Intellectual disability
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 499826
CNV End: 995161
CNV Size: 495336
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, WDR90, RPUSD1, LMF1
lee_17_ASD/DD/ID/MCA_discovery_cases-case22
Primary Diagnosis: Developmental delay
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 521141
CNV End: 860738
CNV Size: 339598
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, WDR90, RPUSD1, LMF1
lee_17_ASD/DD/ID/MCA_discovery_cases-case23
Primary Diagnosis: Developmental delay
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 952394
CNV End: 957394
CNV Size: 5001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
lee_17_ASD/DD/ID/MCA_discovery_cases-case32
Primary Diagnosis: ASD and intellectual disability
Age: 11 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 486666
CNV End: 1399861
CNV Size: 913196
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I
lee_17_ASD/DD/ID/MCA_discovery_cases-case33
Clinical Profile:
Developmental delay, iron-deficiency anemia
Cognitive Profile:
-
Lee SH and Song WJ (2017)Primary Diagnosis: Developmental delay
Age: 4 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1079251
CNV End: 1467727
CNV Size: 388477
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, CACNA1H, UBE2I, CCDC154
leppa_16_ASD_discovery_cases-AU3531301
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 5732999
CNV End: 6837999
CNV Size: 1105001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-99P, RBFOX1
levy_11_ASD_discovery_cases-11435.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 31530
CNV End: 1265849
CNV Size: 1234320
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H
levy_11_ASD_discovery_cases-11502.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2599684
CNV End: 2689445
CNV Size: 89762
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PDPK1, ERVK13-1, KCTD5, PDPK2P
levy_11_ASD_discovery_cases-12154.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 345989
CNV End: 444447
CNV Size: 98459
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MRPL28, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3
levy_11_ASD_discovery_cases-12370.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1782881
CNV End: 1815512
CNV Size: 32632
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGFALS, SPSB3, NUBP2, HAGH
martin_07_ASD_discovery_cases-AU077504
Clinical Profile:
Autism (CARS score of 39.5, ADI-R scores: social 29, communication 29, restricted & repetitive behaviors 10), severe developmental disability, epilepsy, delayed walking with mild residual ataxia, behavioral regression, fluctuating liver function tests, mild cerebellar atrophy. Proband also has de novo translocation between 15p and 16p arms. Proband was also studied in Sebat et al., 2007 article.
Cognitive Profile:
Merrill-Palmer ratio IQ=30 (testing at 6 yrs. 2 mo.)
Martin CL , et al. (2007)Primary Diagnosis: Autism
Age: 12 yrs. 2 mo.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 160000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
mosca_16_DCD_discovery_cases-case110503
Clinical Profile:
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
Cognitive Profile:
-
Mosca SJ , et al. (2016)Primary Diagnosis: DCD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multi-generational
CNV Start: 6388255
CNV End: 6688545
CNV Size: 300291
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249917
Clinical Profile:
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1335714
CNV End: 4822958
CNV Size: 3487245
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, PKD1, CASP16P, SRL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-250971
Clinical Profile:
Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, hypertelorism, kyphosis, intellectual disability/developmental delay, prominent ears.
Cognitive Profile:
Developmental delay/intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1344506
CNV End: 4345975
CNV Size: 3001470
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, PKD1, CASP16P, SRL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-255116
Clinical Profile:
Database: DECIPHER. Indication for study: intellectual disability/developmental delay
Cognitive Profile:
Developmental delay/intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 43522
CNV End: 2610240
CNV Size: 2566719
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256297
Clinical Profile:
Database: DECIPHER. Indication for study: Atrio-ventricular septal defect, nasal bridge, small mandible
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: MCA
Age: N/A
Gender: U
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 58857
CNV End: 986997
CNV Size: 928141
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, NPRL3, FAM234A, WDR90, RPUSD1, LMF1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-257526
Clinical Profile:
Database: DECIPHER. Indication for study: Macrocephaly, intellectual disability/developmental delay, speech delay.
Cognitive Profile:
Developmental delay/intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1745551
CNV End: 2718152
CNV Size: 972602
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-819
Clinical Profile:
Database: DECIPHER. Indication for study: Blepharophimosis/blepharospasm, Camptodactyly/hammer toes, intellectual disability/developmental delay, ptosis of eyelids
Cognitive Profile:
Developmental delay/intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay/intellectual disability
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 935716
CNV End: 3874936
CNV Size: 2939221
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, PKD1, CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC18306
Clinical Profile:
Database: Signature. Indication for study: Cleft Palate, Multiple Congenital Anomalies, arr cgh 9p24.3(RP11-59O6->RP11-443B9)x1
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: MCA
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 21706
CNV End: 3141284
CNV Size: 3119579
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal (balanced carrier)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2288
Clinical Profile:
Database: Signature. Indication for study: Short Stature
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: Short stature
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 809895
CNV End: 2498968
CNV Size: 1689074
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2436
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay, Seizure Disorder, arr cgh 4q35(RP11-347P3,RP11-706F1,RP11-45F23)x1
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay and epilepsy
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 809895
CNV End: 5745796
CNV Size: 4935902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2531
Clinical Profile:
Database: Signature. Indication for study: Multiple congenital anomalies, Seizures, arr cgh 7q36.3(RP11-93F2,RP11-789H4,RP11-1112M14)x1
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: MCA
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 809895
CNV End: 5745796
CNV Size: 4935902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC2938
Clinical Profile:
Database: Signature. Indication for study: Dysmorphic Features, Tetralogy of Fallot , arr cgh 9q34.3(RP11-48C7->RP11-31M4)x1
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: Dysmorphic features and MCA
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 809895
CNV End: 2498968
CNV Size: 1689074
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal (balanced carrier)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC29800
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay
Cognitive Profile:
Developmental delay
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 21706
CNV End: 7649302
CNV Size: 7627597
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, RNU7-99P, RNU6-457P, RNU6-328P, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC34382
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay, arr cgh 6p25.3(RP3-416J7->RP11-58P20)x1
Cognitive Profile:
Developmental delay
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 21706
CNV End: 2498968
CNV Size: 2477263
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC36836
Clinical Profile:
Database: Signature. Indication for study: Multiple Congenital Anomalies
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: MCA
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 42132
CNV End: 3126703
CNV Size: 3084572
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal (balanced carrier)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC38246
Clinical Profile:
Database: Signature. Indication for study: Rocker Bottom Feet, 46,XY,dup(16)(p13.2p13.3)
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 717554
CNV End: 7089190
CNV Size: 6371637
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, RNU7-99P, RNU6-457P, RNU6-328P, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC40429
Clinical Profile:
Database: Signature. Indication for study: Te Fistula
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 42132
CNV End: 7432259
CNV Size: 7390128
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, RNU7-99P, RNU6-457P, RNU6-328P, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC41115
Clinical Profile:
Database: Signature. Indication for study: Lack of coordination, Severe intellectual disability, Unspecified disorder of metabolism
Cognitive Profile:
Severe intellectual disability
Nguyen LS , et al. (2013)Primary Diagnosis: Intellectual disability
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1483847
CNV End: 2500745
CNV Size: 1016899
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC4733
Clinical Profile:
Database: Signature. Indication for study: Ambiguous Genitalia, Dysmorphic Features, Seizure Disorder
Cognitive Profile:
-
Nguyen LS , et al. (2013)Primary Diagnosis: Dysmorphic features and epilepsy
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 2072655
CNV End: 3970552
CNV Size: 1897898
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, PKD1, CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC48384
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay
Cognitive Profile:
Developmental delay
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1937023
CNV End: 2374205
CNV Size: 437183
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, E4F1, ABCA17P, PKD1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62115
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay, Dysmorphic Features, Seizure Disorder, Multiple Congenital Anomalies, Autistic Disorder
Cognitive Profile:
Developmental delay
Nguyen LS , et al. (2013)Primary Diagnosis: ASD and developmental delay
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 47922
CNV End: 6077886
CNV Size: 6029965
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, LINC02164, SNRPCP20, MIR8065, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, ENPP7P14, PKD1, CASP16P, SRL, RBFOX1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC8977
Clinical Profile:
Database: Signature. Indication for study: Developmental Delay
Cognitive Profile:
Developmental delay
Nguyen LS , et al. (2013)Primary Diagnosis: Developmental delay
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 21706
CNV End: 4107317
CNV Size: 4085612
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, NDUFB10, RPS2, SNORA10, SNORA64, SNHG9, SNORA78, RNF151, GFER, SYNGR3, RN7SL219P, NTHL1, MIR1225, MIR6511B1, MIR4516, MIR3180-5, SNHG19, SNORD60, MLST8, PGP, DNASE1L2, MIR3677, MIR940, MIR4717, MIR6767, TEDC2, MIR6768, ATP6V0C, CEMP1, MIR3178, ELOB, SNORA3C, EIF1P4, PRSS30P, PRSS22, RPL23AP86, PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, TBL3, NOXO1, ZNF598, NPW, SLC9A3R2, TSC2, RAB26, TRAF7, CASKIN1, BRICD5, ECI1, RNPS1, ABCA3, CCNF, NTN3, AMDHD2, PDPK1, ERVK13-1, KCTD5, PRSS27, PRSS33, PRSS41, PRSS21, ZG16B, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB, E4F1, ABCA17P, TBC1D24, PDPK2P, SRRM2-AS1, SRRM2, FLYWCH2, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, PKD1, CASP16P
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient185
Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient186
Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient187
Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient188
Primary Diagnosis: DD/ID/MCA
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nord_11_ASD_discovery_cases-250-1
Primary Diagnosis: ASD
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1095803
CNV End: 1129354
CNV Size: 33552
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: Unknown
Gene Content: -
pfundt_16_NDD_discovery_cases-case10
Clinical Profile:
Disease cohort: neurodevelopmental disorder. Description: ALG1 deletion
Cognitive Profile:
-
Pfundt R , et al. (2016)Primary Diagnosis: NDD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 4958316
CNV End: 6317058
CNV Size: 1358743
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC02164, SNRPCP20, MIR8065, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, LINC01570, SEC14L5, ENPP7P14, RBFOX1
pinto_14_ASD_discovery_cases2-case16058_1571037001
Clinical Profile:
Autism, few words, chronic otitis media, no seizures; no problems at birth but large baby (4.59 kg). Family history: both parents unaffected.
Cognitive Profile:
Moderate ID (Leiter Brief at 24 y: PIQ 40)
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: 24 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 2061229
CNV End: 2089694
CNV Size: 28466
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TSC2, PKD1
poultney_13_ASD_discovery_cases-case00HI1235A
Clinical Profile:
ASD case from AGRE (AGRE ID AU056603; NDAR ID NDAR_INVVG057REG)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 2586674
CNV End: 2597769
CNV Size: 11096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case03HI2537A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 5089105
CNV End: 5095516
CNV Size: 6412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case04HI2774A
Clinical Profile:
ASD case from AGRE (AGRE ID AU0994302; NDAR ID NDAR_INVRW825HC4)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 3655372
CNV End: 3666120
CNV Size: 10749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
poultney_13_ASD_discovery_cases-case04HI3508B
Clinical Profile:
ASD case from AGRE (AGRE ID AU1364302; NDAR ID NDAR_INVFL271UFE)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 1338900
CNV End: 1525328
CNV Size: 186429
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: TSR3, C16orf91, RPS3AP2, PTX4, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, CCDC154, IFT140
poultney_13_ASD_discovery_cases-case98HI0158A
Clinical Profile:
ASD case from AGRE (AGRE ID AU010904; NDAR ID NDAR_INVWN987FMF)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 634524
CNV End: 653672
CNV Size: 19149
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: METTL26, MCRIP2, WDR90
poultney_13_ASD_discovery_cases-case99HI0807A
Clinical Profile:
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 2206084
CNV End: 2208879
CNV Size: 2796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case99HI1171A
Clinical Profile:
ASD case from AGRE (AGRE ID AU023804; NDAR ID NDAR_INVBJ403VYZ)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 3057031
CNV End: 3091599
CNV Size: 34569
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU1-125P, RNU1-22P, MMP25-AS1, MMP25, IL32, ZSCAN10
prasad_12_ASD_discovery_cases-case103019L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 758920
CNV End: 824148
CNV Size: 65229
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: GNG13, MIR662, MSLNL, RPUSD1, CHTF18, PRR25
prasad_12_ASD_discovery_cases-case110408
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 3047397
CNV End: 3065441
CNV Size: 18045
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: MMP25, IL32
prasad_12_ASD_discovery_cases-case131240
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 155524
CNV End: 171978
CNV Size: 16455
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: HBM, HBA1, HBA2, HBQ1
prasad_12_ASD_discovery_cases-case165216L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3360809
CNV End: 5067433
CNV Size: 1706625
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CLUAP1, NAGPA, CORO7-PAM16, GLIS2, ALG1, ROGDI, SEC14L5, C16orf5, ZNF597, NUDT16L1, GLYR1, LOC440335, UBN1, CORO7, C16orf89, LOC342346, SLX4, TRAP1, DNASE1, PPL, ZNF434, PAM16, ANKS3, FAM100A, NLRC3, MTRNR2L4, C16orf71, VASN, NMRAL1, SRL, NAT15, DNAJA3, TFAP4, ZNF174, ADCY9, HMOX2, C16orf90, ZNF500, SEPT12, MGRN1, CREBBP
prasad_12_ASD_discovery_cases-case47378
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3693064
CNV End: 3706799
CNV Size: 13736
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case59800L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4554195
CNV End: 4588211
CNV Size: 34017
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
prasad_12_ASD_discovery_cases-case60965L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 386762
CNV End: 402542
CNV Size: 15781
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NME4, DECR2
prasad_12_ASD_discovery_cases-case60973L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 3047397
CNV End: 3065441
CNV Size: 18045
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: MMP25, IL32
prasad_12_ASD_discovery_cases-case92173L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1805320
CNV End: 1814923
CNV Size: 9604
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -
sajan_13_ACC/CBLH/PMG_discovery_cases-case1058-0
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: unknown.
Cognitive Profile:
Developmental delay: yes. Intellectual disability: yes.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 93226
CNV End: 137510
CNV Size: 44285
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
sajan_13_ACC/CBLH/PMG_discovery_cases-case1641-0
Primary Diagnosis: PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1202441
CNV End: 1247144
CNV Size: 44704
Validation Description: qPCR (CNV not detected)
Primary Disorder Inheritence: -
CNV Inheritance: Bi-parental
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TPSG1, TPSAB1, TPSB2, CACNA1H
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
Primary Diagnosis: PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1754356
CNV End: 1791032
CNV Size: 36677
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NME3, MRPS34, EME2, IGFALS, MAPK8IP3, SPSB3, NUBP2
sanders_11_ASD_discovery_cases-11001.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 4074299
CNV End: 4104850
CNV Size: 30552
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11032.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11033.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 153255
CNV End: 162650
CNV Size: 9396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: HBZ, HBM
sanders_11_ASD_discovery_cases-11041.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11047.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 4370786
CNV End: 4395326
CNV Size: 24541
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CORO7-PAM16, CORO7, VASN
sanders_11_ASD_discovery_cases-11048.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 153255
CNV End: 165863
CNV Size: 12609
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: HBZ, HBM, HBZP1
sanders_11_ASD_discovery_cases-11056.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11111.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11114.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11115.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1239868
CNV End: 1247188
CNV Size: 7321
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11124.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 57; non-verbal IQ, 72; verbal IQ, 44
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11152.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11158.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11172.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3164963
CNV End: 3193850
CNV Size: 28888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11202.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 3164963
CNV End: 3195766
CNV Size: 30804
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11212.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2621297
CNV End: 2649782
CNV Size: 28486
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11218.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 155036
CNV End: 162650
CNV Size: 7615
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11229.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2655415
CNV End: 2675255
CNV Size: 19841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11232.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 74; non-verbal IQ, 68; verbal IQ 91
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11246.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11282.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11334.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 121; non-verbal IQ, 129; verbal IQ, 102
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11350.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 80; non-verbal IQ, 92; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 153255
CNV End: 165863
CNV Size: 12609
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: HBZ, HBM, HBZP1
sanders_11_ASD_discovery_cases-11399.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 11.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11414.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 83; verbal IQ, 80
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3696240
CNV End: 3713733
CNV Size: 17494
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11425.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 103; non-verbal IQ, 104; verbal IQ, 102
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 326781
CNV End: 331927
CNV Size: 5147
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11435.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 10835
CNV End: 1263636
CNV Size: 1252802
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: DDX11L10, MIR6859-4, WASIR2, SNRNP25, HBZ, HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, MIR3176, PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, WASH4P, IL9RP3, POLR3K, RHBDF1, MPG, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, PRSS29P, NPRL3, FAM234A, WDR90, RPUSD1, LMF1, CACNA1H
sanders_11_ASD_discovery_cases-11439.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 627629
CNV End: 735279
CNV Size: 107651
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, WDR90
sanders_11_ASD_discovery_cases-11439.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1427472
CNV End: 1452863
CNV Size: 25392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: CLCN7, CCDC154
sanders_11_ASD_discovery_cases-11439.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 505572
CNV End: 554444
CNV Size: 48873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, RAB11FIP3, CAPN15
sanders_11_ASD_discovery_cases-11439.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1134967
CNV End: 1221348
CNV Size: 86382
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11447.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11464.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 3655014
CNV End: 3668847
CNV Size: 13834
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
sanders_11_ASD_discovery_cases-11473.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 171058
CNV End: 173676
CNV Size: 2619
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11475.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11485.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11491.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11502.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 154; non-verbal IQ, 148; verbal IQ, 145
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2557800
CNV End: 2675255
CNV Size: 117456
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: PDPK1, ERVK13-1, PDPK2P
sanders_11_ASD_discovery_cases-11543.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 16.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11567.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11577.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 83; non-verbal IQ, 100; verbal IQ, 73
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11580.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 64
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11581.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 78; verbal IQ, 49
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 171058
CNV End: 173676
CNV Size: 2619
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11592.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11625.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 34; non-verbal IQ, 44; verbal IQ, 14
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11642.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 71; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11691.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3576300
CNV End: 3579226
CNV Size: 2927
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11691.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11721.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11734.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 1944748
CNV End: 1956098
CNV Size: 11351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11734.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173122
CNV End: 175654
CNV Size: 2533
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11781.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 85; non-verbal IQ, 86; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11841.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11843.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173626
CNV End: 175654
CNV Size: 2029
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11846.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11894.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 155036
CNV End: 165863
CNV Size: 10828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: HBM, HBZP1
sanders_11_ASD_discovery_cases-11894.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11918.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1213042
CNV End: 1222038
CNV Size: 8997
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TPSG1, CACNA1H
sanders_11_ASD_discovery_cases-11933.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 504458
CNV End: 546762
CNV Size: 42305
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: LINC00235, MIR5587, MIR3176, RAB11FIP3, CAPN15
sanders_11_ASD_discovery_cases-11933.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11939.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11954.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 153255
CNV End: 162650
CNV Size: 9396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: HBZ, HBM
sanders_11_ASD_discovery_cases-11981.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 6.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1857557
CNV End: 1862020
CNV Size: 4464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11989.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2460602
CNV End: 2466737
CNV Size: 6136
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: TEDC2, MIR6768
sanders_11_ASD_discovery_cases-12003.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12007.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 54; verbal IQ, 83
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 573238
CNV End: 583354
CNV Size: 10117
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12019.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 9.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12032.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 700107
CNV End: 735279
CNV Size: 35173
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: METRN, CCDC78, HAGHL, FBXL16, FAM173A, CIAO3
sanders_11_ASD_discovery_cases-12033.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2315287
CNV End: 2318168
CNV Size: 2882
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12050.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173626
CNV End: 175654
CNV Size: 2029
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12060.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 171987
CNV End: 175654
CNV Size: 3668
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12093.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 97
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12096.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12102.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 45; non-verbal IQ, 52; verbal IQ, 38
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12150.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12152.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12162.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 67; non-verbal IQ, 68; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2644500
CNV End: 2649782
CNV Size: 5283
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12208.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 109; non-verbal IQ, 118; verbal IQ, 89
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12220.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12286.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2639208
CNV End: 2659456
CNV Size: 20249
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12332.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 12.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12337.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 11.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12370.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 1778838
CNV End: 1813519
CNV Size: 34682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: EME2, IGFALS, SPSB3, NUBP2, HAGH
sanders_11_ASD_discovery_cases-12404.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2947254
CNV End: 3052208
CNV Size: 104955
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, FLYWCH1, KREMEN2, BICDL2, MMP25-AS1, MMP25
sanders_11_ASD_discovery_cases-12424.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 4.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12477.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12497.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12540.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12543.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 67
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 8.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2607623
CNV End: 2675255
CNV Size: 67633
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: ERVK13-1, PDPK2P
sanders_11_ASD_discovery_cases-12566.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 43
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 802137
CNV End: 830773
CNV Size: 28637
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12579.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12604.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12610.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 99; verbal IQ, 71
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 5.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12638.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12648.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12661.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12708.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 63
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 5486964
CNV End: 5499932
CNV Size: 12969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12710.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 1487838
CNV End: 1510193
CNV Size: 22356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: PTX4, TELO2
sanders_11_ASD_discovery_cases-12710.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 774098
CNV End: 802137
CNV Size: 28040
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, MSLNL, RPUSD1
sanders_11_ASD_discovery_cases-12735.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 10.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3059031
CNV End: 3072281
CNV Size: 13251
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU1-125P, MMP25-AS1, MMP25, IL32
sanders_11_ASD_discovery_cases-12735.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 10.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12796.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12931.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3059031
CNV End: 3072281
CNV Size: 13251
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU1-125P, MMP25-AS1, MMP25, IL32
sanders_11_ASD_discovery_cases-12937.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 17.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2934495
CNV End: 2937001
CNV Size: 2507
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12946.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 97; non-verbal IQ, 93; verbal IQ, 106
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12979.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 68; verbal IQ, 65
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173122
CNV End: 175654
CNV Size: 2533
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12984.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 3426078
CNV End: 3453738
CNV Size: 27661
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: ZNF597, NAA60
sanders_11_ASD_discovery_cases-13013.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13018.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 12.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 4564858
CNV End: 4593451
CNV Size: 28594
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13019.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13056.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 173122
CNV End: 175654
CNV Size: 2533
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13065.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 747571
CNV End: 785298
CNV Size: 37728
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: MSLN, MIR662, MSLNL, RPUSD1
sanders_11_ASD_discovery_cases-13072.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 15.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173626
CNV End: 175654
CNV Size: 2029
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13136.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 42; non-verbal IQ, 53; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13159.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13218.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 3164963
CNV End: 3193850
CNV Size: 28888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13233.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13266.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 6207541
CNV End: 6225530
CNV Size: 17990
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sansovic_17_DD/ID/ASD_discovery_cases-case36
Clinical Profile:
Developmental delay/intellectual disability, ASD
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability and ASD
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3654208
CNV End: 3666094
CNV Size: 11887
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
sansovic_17_DD/ID/ASD_discovery_cases-case4
Clinical Profile:
Developmental delay/intellectual disability, ASD
Cognitive Profile:
-
Sansovi I , et al. (2017)Primary Diagnosis: Developmental delay/intellectual disability and ASD
Age: 2 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6941420
CNV End: 6986067
CNV Size: 44648
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
sebat_07_ASD_discovery_cases-AU077504
Primary Diagnosis: Autism
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 5992836
CNV End: 6200816
CNV Size: 207980
Validation Description: 390K ROMA or Agilent 244K aCGH, G-banded karyotyping, FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -
tammimies_15_ASD_discovery_cases-case3-0313-000
Clinical Profile:
Speech dyspraxia, immobile soft palate, velopharyngeal insufficiency, Drusen left optic nerve. Dysmorphic features: small mouth, abnormal eyebrows, asymmetric palpebral fissures, malar hypoplasia, square nose, dystrophic nails, dimples over scapulae.
Cognitive Profile:
Normal intelligence (IQ of 120)
Tammimies K , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 3370386
CNV End: 5071366
CNV Size: 1700981
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTND1P8, MTRNR2L4, MIR6126, C16orf90, LINC01569, SUB1P3, UBALD1, RN7SL850P, MIR6769A, NUDT16L1, SMIM22, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, TFAP4, PAM16, CORO7-PAM16, CORO7, VASN, NMRAL1, HMOX2, CDIP1, MGRN1, C16orf71, ZNF500, SEPT12, ROGDI, GLYR1, PPL, NAGPA-AS1, NAGPA, ALG1, C16orf89, ZNF174, CLUAP1, DNASE1, TRAP1, CREBBP, ADCY9, GLIS2, GLIS2-AS1, DNAJA3, C16orf96, ANKS3, UBN1, SEC14L5, SRL
yin_16_ASD_discovery_cases-case487
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 10765
CNV End: 60860
CNV Size: 50096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: DDX11L10, MIR6859-4, WASIR2, SNRNP25, WASH4P, IL9RP3, POLR3K, RHBDF1
yin_16_ASD_discovery_cases-case488
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 4960912
CNV End: 5166717
CNV Size: 205806
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, SEC14L5, ENPP7P14
yin_16_ASD_discovery_cases-case489
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 5582425
CNV End: 5735404
CNV Size: 152980
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8065, LINC01570, RBFOX1
yin_16_ASD_discovery_cases-case490
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 5892658
CNV End: 6950799
CNV Size: 1058142
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-99P, RNU6-457P, RBFOX1
yin_16_ASD_discovery_cases-case491
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 6375428
CNV End: 6455455
CNV Size: 80028
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
yuen_17_ASD_discovery_cases-case5-0138-003
Clinical Profile:
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 3638500
CNV End: 3849499
CNV Size: 211000
Validation Description: Affymetrix CytoScanHD
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1, CREBBP
yuen_17_ASD_discovery_cases-caseAU048206
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 2052500
CNV End: 2089999
CNV Size: 37500
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TSC2, PKD1
yuen_17_ASD_discovery_cases-caseAU4399302
Clinical Profile:
Case cohort: AGRE. Clinical description: N/A
Cognitive Profile:
-
C Yuen RK et al. (2017)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2037000
CNV End: 2097999
CNV Size: 61000
Validation Description: Not available
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NTHL1, MIR1225, SLC9A3R2, TSC2, PKD1
brandler_18_ASD_replication_cases-caseSSC04850
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2060812
CNV End: 2061573
CNV Size: 762
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
chan_22_ASD_discovery_cases-case3-0313-000
Clinical Profile:
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Language and communication evaluation: speech dyspraxia, loss of a 10-word vocabulary at 3 years followed by usage of 20 words approximations at 5 years 7 months. Brain imaging: anomalous optic nerve heads (no central disc cup, redundent vessels at the disc) and Drusen of the left optic nerve documented at 5 years. Additional medical history: severe velopharyngeal insufficiency, asthma. Dysmorphic features: abnormal eyebrows (thick medially, sparse laterally), asymmetric upslanting palpebral fissures, malar hypoplasia, square upturned nose, small mouth with immobile soft palate, dystrophic finger and toenails (all nails were absent at birth).
Cognitive Profile:
-
Chan AJS et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 292000
CNV End: 6794000
CNV Size: 6502001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP6V0C, CCNF, CLCN7, ABCA3, ADCY9, DNASE1L2, E4F1, CREBBP, ECI1, DNASE1, SNORA64, SNORD60, CDIP1, SOX8, MSRB1, AMDHD2, PAM16, UBN1, TNFRSF12A, NAGPA, GNG13, KCTD5, ZSCAN32, RBFOX1, HCFC1R1, CRAMP1, ALG1, TBC1D24, CASKIN1, RAB40C, PGAP6, NMRAL1, HS3ST6, CHTF18, TMEM204, LMF1, RPS3AP2, NAA60, ANTKMT, CIAO3, MRPS34, UNKL, METRN, MLST8, CORO7, RPS20P2, LINC00254, THOC6, LINC00235, ROGDI, TPSB2, KREMEN2, MMP25, PRSS22, FAHD1, FLYWCH1, HAGHL, TEDC2, TRAF7, MCRIP2, WDR24, METTL26, PRSS27, NUDT16L1, SLX4, SPSB3, ZSCAN10, JPT2, GLIS2, GNPTG, RHOT2, TIGD7, RPUSD1, GLYR1, ZNF598, FLYWCH2, SEPTIN12, UBALD1, NOXO1, TSR3, PRSS29P, PAQR4, ZG16B, CCDC78, WFIKKN1, PRSS30P, VASN, ANKS3, FBXL16, ZNF597, BICDL2, RNF151, DNAAF8, PRR35, SSTR5-AS1, C16orf89, NLRC3, WDR90, EME2, EEF2KMT, CASP16P, HAGH, IGFALS, GFER, HMOX2, GREP1, PGP, LINC00921, MEIOB, BRICD5, NPW, NHLRC4, C16orf91, PRSS33, JMJD8, C16orf96, PRSS41, PTX4, C1QTNF8, MSLNL, SMIM22, SNORA10, C16orf90, CCDC154, PDPK2P, ABCA17P, MIR662, SNORA78, TPSP2, SNHG9, MIR940, TEDC2-AS1, CEMP1, RPS3AP48, EIF1P4, SRRM2-AS1, NPM1P3, NDUFB10, OR1F1, MEFV, NME3, OR2C1, NTHL1, NTN3, NME4, MIR1225, MTND1P8, MIR3180-5, MIR3177, MIR3677, MIR3178, MTRNR2L4, MIR3176, MMP25-AS1, CORO7-PAM16, MIR4516, LINC01569, ERVK13-1, ZNF213-AS1, SNHG19, RPL23AP86, MIR4717, MIR5587, RNU1-22P, LINC01570, GLIS2-AS1, PKD1, PDPK1, PPL, RPL3L, RPS2, LMF1-AS1, MIR6126, MIR6511B1, MIR6767, MIR8065, MIR6768, MIR6769A, LINC02861, LINC02124, LINC02164, STUB1-DT, PERCC1, RN7SL219P, TSC2, UBE2I, SSTR5, TFAP4, ELOB, TPSAB1, SRL, CAPN15, RN7SL850P, SNRPCP20, RNU7-99P, SUB1P3, MTCO1P28, RNU1-125P, ENPP7P14, MIR3677HG, SNORA3C, CACNA1H, AXIN1, ZNF200, BAIAP3, ZNF213, ZNF75A, ZNF205, ZNF174, CEROX1, PIGQ, ZNF263, IL32, PKMYT1, DNAJA3, SYNGR3, CLDN9, SLC9A3R2, RHBDL1, NUBP2, TRAP1, SEC14L5, RAB11FIP3, CLDN6, TELO2, IFT140, MRPL28, PRSS21, STUB1, MSLN, RNPS1, TBL3, OR1F2P, TPSG1, CLUAP1, TPSD1, ZNF500, MGRN1, RAB26, DECR2, SRRM2, MAPK8IP3
cuinat_22_DD/ID_discovery_cases-case15
Clinical Profile:
Birth/neonatal history: premature birth (36+4 weeks). Developmental milestones: developmental delay, langauge delay (first words at 1 years, first sentences at 3 years, followed by developmental stagnation). Motor and musculoskeletal evaluation: coordination problems/dyspraxia. Behavioral/psychiatric evaluation: autistic features, ADHD features. Dysmorphic features: facial dysmorphism. Growth parameters: decreased body mass index (3rd %ile). Family history: this patient also had an Xp22.33 duplication inherited from a father with ADHD.
Cognitive Profile:
Mild intellectual disability (IQ 55)
Cuinat S et al. (2022)Primary Diagnosis: Developmental delay, intellectual disability, autistic features, and ADHD features
Age: 7 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2713526
CNV End: 2982565
CNV Size: 269040
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: KREMEN2, PRSS22, FLYWCH1, PRSS27, FLYWCH2, PAQR4, ZG16B, PRSS30P, PRSS33, PRSS41, EIF1P4, SRRM2-AS1, RPL23AP86, ELOB, SNORA3C, PKMYT1, PRSS21, SRRM2
cuinat_22_DD/ID_discovery_cases-case22
Clinical Profile:
Developmental milestones: developmental delay, language delay (first words at 25 months), delayed ability to walk (18 months). Motor and musculoskeletal evaluation: abnormalities of the hands and feet (thin fingers, sandal gap). Behavioral/psychiatric evaluation: ADHD features, behavioral problems (often very tired). Additional medical history: feeding difficulties. Dysmorphic features: Growth parameters: microcephaly (-2.5 SD).
Cognitive Profile:
Mild intellectual disability (IQ 55)
Cuinat S et al. (2022)Primary Diagnosis: Developmental delay, intellectual disability, and ADHD features
Age: 14 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2697759
CNV End: 2763510
CNV Size: 65752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: KCTD5, PRSS27, SRRM2-AS1, SRRM2
elalaoui_21_DD/ID_discovery_cases-case6
Clinical Profile:
Developmental milestones: psychomotor delay, speech delay. Motor and musculoskeletal evaluation: broad and angulated thumbs, broad halluces. Additional medical history: urogenital malformation (cryptorchidism), heart malformation (ventricular septal defect, atrial septal defect), feeding difficulties, recurrent pulmonary infections. Dysmorphic features: low anterior hairline, high arched and broad eyebrows, long eyelashes, downslanting palpebral fissures, beaked nose, low-set ears, hirsutism, micrognatha, short neck, strabismus, convexed nose, high arched palate. Growth parameters: growth retardation. Family history: only child of non-consanguineous Moroccan parents.
Cognitive Profile:
Intellectual disability
Elalaoui SC et al. (2021)Primary Diagnosis: Developmental delay and intellectual disability
Age: 3 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3658918
CNV End: 3756510
CNV Size: 97593
Validation Description: QMF-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: CREBBP, DNASE1, TRAP1
feliciano_19_ASD_discovery_cases-caseSP0026759
Clinical Profile:
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
Cognitive Profile:
-
Feliciano P et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2253963
CNV End: 2295741
CNV Size: 41779
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR3677, MIR940, MIR4717, RNPS1, ABCA3
jiao_19_EP/DD/ID_discovery_cases-caseDD18012682
Clinical Profile:
Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration. Epilepsy/seizures: seizures (febrile seizures). EEG: EEG abnormality.
Cognitive Profile:
-
Jiao Q , et al. (2019)Primary Diagnosis: DD and epilepsy/seizures
Age: 2 yrs. 5 mos.
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 60961
CNV End: 543252
CNV Size: 482292
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HBA2, HBA1, HBQ1, RGS11, PDIA2, MRPL28, LINC00235, MIR5587, RHBDF1, MPG, HBZ, HBM, HBZP1, LUC7L, ARHGDIG, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3, CAPN15, NPRL3, FAM234A
kushima_22_ASD_discovery_cases-caseASD0976
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6759005
CNV End: 6789572
CNV Size: 30568
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_ASD_discovery_cases-caseASD1001
Clinical Profile:
Diagnosis of ASD according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6759005
CNV End: 6789572
CNV Size: 30568
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_BPD_discovery_cases-caseBD0402
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6765959
CNV End: 7040095
CNV Size: 274137
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU6-457P, RNU6-328P
kushima_22_BPD_discovery_cases-caseBD0713
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6589026
CNV End: 6667451
CNV Size: 78426
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_BPD_discovery_cases-caseBD1446
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6765959
CNV End: 6833235
CNV Size: 67277
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_BPD_discovery_cases-caseBD1585
Clinical Profile:
Diagnosis of bipolar disorder according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Bipolar disorder
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6749242
CNV End: 6851577
CNV Size: 102336
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ0076
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 7029166
CNV End: 7099643
CNV Size: 70478
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ0474
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1138685
CNV End: 1274606
CNV Size: 135922
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: TPSB2, PRSS29P, TPSAB1, CACNA1H, TPSG1, TPSD1
kushima_22_SCZ_discovery_cases-caseSCZ0603
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1138685
CNV End: 1325829
CNV Size: 187145
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: TPSB2, PRSS29P, TPSP2, UBE2I, TPSAB1, CACNA1H, TPSG1, TPSD1
kushima_22_SCZ_discovery_cases-caseSCZ0613
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6631946
CNV End: 7029167
CNV Size: 397222
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU6-457P, RNU6-328P, RNU7-99P
kushima_22_SCZ_discovery_cases-caseSCZ1786
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6622569
CNV End: 6720408
CNV Size: 97840
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ2138
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6773908
CNV End: 6978067
CNV Size: 204160
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU6-457P
kushima_22_SCZ_discovery_cases-caseSCZ2452
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6355715
CNV End: 6937802
CNV Size: 582088
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU6-457P, RNU7-99P
kushima_22_SCZ_discovery_cases-caseSCZ2653
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6360350
CNV End: 6582207
CNV Size: 221858
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_SCZ_discovery_cases-caseSCZ3257
Clinical Profile:
Diagnosis of schizophrenia according to DSM-5 criteria.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Schizophrenia
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6946801
CNV End: 7178748
CNV Size: 231948
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU6-328P
levchenko_22_DD/ID_discovery_cases-caseD856
Clinical Profile:
Case presented with non-specific intellectual developmental disorder; no additional clinical information was provided.
Cognitive Profile:
-
Levchenko O et al. (2022)Primary Diagnosis: Developmental delay/intellectual disability
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 35880
CNV End: 4969216
CNV Size: 4933337
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ARHGDIG, ATP6V0C, CCNF, CLCN7, ABCA3, ADCY9, DNASE1L2, E4F1, CREBBP, ECI1, DNASE1, SNORA64, SNORD60, CDIP1, SOX8, POLR3K, MSRB1, AMDHD2, PAM16, UBN1, TNFRSF12A, GNG13, KCTD5, ZSCAN32, LUC7L, HCFC1R1, CRAMP1, TBC1D24, CASKIN1, RAB40C, PGAP6, NMRAL1, HS3ST6, CHTF18, TMEM204, LMF1, RPS3AP2, NAA60, ANTKMT, CIAO3, MRPS34, UNKL, METRN, RHBDF1, PDIA2, MLST8, CORO7, RPS20P2, LINC00254, THOC6, SNRNP25, LINC00235, ROGDI, TPSB2, KREMEN2, MMP25, PRSS22, FAHD1, FLYWCH1, HAGHL, TEDC2, FAM234A, TRAF7, MCRIP2, WDR24, METTL26, PRSS27, NUDT16L1, SLX4, SPSB3, ZSCAN10, JPT2, GLIS2, GNPTG, RHOT2, TIGD7, RPUSD1, GLYR1, ZNF598, FLYWCH2, SEPTIN12, UBALD1, NOXO1, TSR3, PRSS29P, PAQR4, ZG16B, CCDC78, WFIKKN1, PRSS30P, VASN, ANKS3, FBXL16, ZNF597, BICDL2, RNF151, DNAAF8, PRR35, SSTR5-AS1, NLRC3, WDR90, EME2, CASP16P, HBZ, HBA2, HAGH, IGFALS, GFER, HBA1, HBAP1, HBZP1, HMOX2, HBQ1, HBM, GREP1, PGP, LINC00921, MEIOB, BRICD5, NPW, NHLRC4, C16orf91, PRSS33, JMJD8, C16orf96, PRSS41, PTX4, C1QTNF8, MSLNL, SMIM22, SNORA10, C16orf90, CCDC154, PDPK2P, ABCA17P, MIR662, SNORA78, TPSP2, SNHG9, MIR940, TEDC2-AS1, IL9RP3, CEMP1, EIF1P4, SRRM2-AS1, NDUFB10, OR1F1, MEFV, NME3, OR2C1, NTHL1, NTN3, MPG, NME4, MIR1225, MTND1P8, MIR3180-5, MIR3177, MIR3677, MIR3178, MTRNR2L4, MIR3176, MMP25-AS1, CORO7-PAM16, MIR4516, LINC01569, ERVK13-1, ZNF213-AS1, SNHG19, RPL23AP86, MIR4717, MIR5587, RNU1-22P, GLIS2-AS1, PKD1, PDPK1, PPL, RPL3L, RPS2, LMF1-AS1, MIR6126, MIR6511B1, MIR6767, MIR6768, MIR6769A, LINC02861, LINC02124, STUB1-DT, PERCC1, RN7SL219P, TSC2, UBE2I, SSTR5, TFAP4, ELOB, TPSAB1, SRL, CAPN15, RN7SL850P, SUB1P3, MTCO1P28, RNU1-125P, MIR3677HG, SNORA3C, CACNA1H, AXIN1, ZNF200, BAIAP3, ZNF213, NPRL3, RGS11, ZNF75A, ZNF205, ZNF174, CEROX1, PIGQ, ZNF263, IL32, PKMYT1, DNAJA3, SYNGR3, CLDN9, SLC9A3R2, RHBDL1, NUBP2, TRAP1, SEC14L5, RAB11FIP3, CLDN6, TELO2, IFT140, MRPL28, PRSS21, STUB1, MSLN, RNPS1, TBL3, OR1F2P, TPSG1, CLUAP1, TPSD1, ZNF500, MGRN1, RAB26, DECR2, SRRM2, MAPK8IP3
mahjani_21_ASD_discovery_cases-case189
Clinical Profile:
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
Cognitive Profile:
-
Mahjani B et al. (2021)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 38164
CNV End: 1066567
CNV Size: 1028404
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ARHGDIG, GNG13, POLR3K, SOX8, LUC7L, PGAP6, RAB40C, CHTF18, LMF1, CIAO3, ANTKMT, PDIA2, METRN, RHBDF1, SNRNP25, LINC00235, FAM234A, METTL26, HAGHL, MCRIP2, WDR24, RPUSD1, RHOT2, WFIKKN1, CCDC78, SSTR5-AS1, PRR35, FBXL16, WDR90, HBM, HBQ1, HBZ, HBA1, HBAP1, HBZP1, HBA2, NHLRC4, JMJD8, MSLNL, MIR662, IL9RP3, MPG, NME4, MIR3176, MIR5587, LMF1-AS1, STUB1-DT, CAPN15, AXIN1, RGS11, NPRL3, CEROX1, PIGQ, RHBDL1, RAB11FIP3, MSLN, MRPL28, STUB1, DECR2
munnich_19_ASD_discovery_cases-case12
Clinical Profile:
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
Cognitive Profile:
-
Munnich A , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3781262
CNV End: 3781321
CNV Size: 60
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
tuncay_22_ASD_discovery_cases-caseMC-03-3
Clinical Profile:
Diagnosis of ASD at 7 years. Language and communication evaluation: speech impairment (phonetic, non-verbal). Family history: born to unaffected non-consanguineous parents of South Asian ancestry.
Cognitive Profile:
-
Tuncay IO et al. (2022)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 5143621
CNV End: 6573109
CNV Size: 1429489
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RBFOX1, RPS3AP48, NPM1P3, LINC01570, MIR8065, LINC02164, SNRPCP20, ENPP7P14
tuncay_22_ASD_discovery_cases-caseMC-16-3
Clinical Profile:
Diagnosis of ASD at 0.83 years. Developmental milestones: developmental delay. Additional medical history: gastrointestinal problems. Family history: born to unaffected non-consanguineous parents of Hispanic and European ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, and intellectual disability
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2915102
CNV End: 4017601
CNV Size: 1102500
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ADCY9, CREBBP, DNASE1, TNFRSF12A, ZSCAN32, HCFC1R1, NAA60, THOC6, KREMEN2, MMP25, FLYWCH1, SLX4, ZSCAN10, TIGD7, PAQR4, ZNF597, BICDL2, NLRC3, CASP16P, GREP1, LINC00921, C16orf90, OR1F1, MEFV, OR2C1, MTND1P8, MTRNR2L4, MMP25-AS1, ZNF213-AS1, RPL23AP86, RNU1-22P, MIR6126, LINC02861, MTCO1P28, RNU1-125P, ZNF200, ZNF213, ZNF75A, ZNF205, ZNF174, ZNF263, IL32, PKMYT1, CLDN9, TRAP1, CLDN6, OR1F2P, CLUAP1
tuncay_22_ASD_discovery_cases-caseMC-17-3
Clinical Profile:
Diagnosis of ASD at 3.5 years. Developmental milestones: developmental delay. Language and communication evaluation: speech impairment (phonetic, non-verbal). Epilepsy/seizures: seizures. Family history: born to unaffected non-consanguineous parents of South Asian ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, intellectual disability, and seizures
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1022982
CNV End: 1702764
CNV Size: 679783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CLCN7, CRAMP1, TMEM204, RPS3AP2, UNKL, RPS20P2, TPSB2, JPT2, GNPTG, TSR3, PRSS29P, SSTR5-AS1, C16orf91, PTX4, C1QTNF8, CCDC154, TPSP2, PERCC1, UBE2I, SSTR5, TPSAB1, CACNA1H, BAIAP3, TELO2, IFT140, TPSG1, TPSD1
tuncay_22_ASD_discovery_cases-caseMC-17-3
Clinical Profile:
Diagnosis of ASD at 3.5 years. Developmental milestones: developmental delay. Language and communication evaluation: speech impairment (phonetic, non-verbal). Epilepsy/seizures: seizures. Family history: born to unaffected non-consanguineous parents of South Asian ancestry.
Cognitive Profile:
Intellectual disability, learning disabilities
Tuncay IO et al. (2022)Primary Diagnosis: ASD, developmental delay, intellectual disability, and seizures
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1858419
CNV End: 2646432
CNV Size: 788014
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ATP6V0C, CCNF, ABCA3, DNASE1L2, E4F1, ECI1, SNORA64, SNORD60, MSRB1, AMDHD2, TBC1D24, CASKIN1, HS3ST6, MLST8, LINC00254, TEDC2, TRAF7, ZNF598, NOXO1, RNF151, GFER, PGP, MEIOB, BRICD5, NPW, SNORA10, PDPK2P, ABCA17P, SNORA78, SNHG9, MIR940, TEDC2-AS1, CEMP1, NDUFB10, NTHL1, NTN3, MIR1225, MIR3180-5, MIR3677, MIR3178, MIR4516, SNHG19, MIR4717, PKD1, PDPK1, RPL3L, RPS2, MIR6511B1, MIR6767, MIR6768, LINC02124, RN7SL219P, TSC2, MIR3677HG, SYNGR3, SLC9A3R2, RNPS1, TBL3, RAB26
verberne_22_ASD/DD/ID_discovery_cases-case518
Clinical Profile:
Polycystic kidney disease, subcortical tubers, hypertrophic cardiomyopathy, hypopigmentation
Cognitive Profile:
-
Verberne EA et al. (2022)Primary Diagnosis: -
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2056892
CNV End: 2081456
CNV Size: 24565
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Show all Control Details
Show all Cohort Details
No control populations reported.
Show all Control Details
Show all Cohort Details
engchuan_15_ASD_discovery_controls-control110036018794_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3949583
CNV End: 4083075
CNV Size: 133493
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-control110036023398_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 774098
CNV End: 835032
CNV Size: 60935
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, MSLNL, RPUSD1
engchuan_15_ASD_discovery_controls-control110036024081_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1083049
CNV End: 1247188
CNV Size: 164140
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: C1QTNF8, TPSG1, TPSAB1, TPSB2, CACNA1H
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3060405
CNV End: 3683733
CNV Size: 623329
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU1-125P, RNU1-22P, ZNF213, OR1F1, OR1F2P, LINC00921, TIGD7, OR2C1, MTCO1P28, MTND1P8, MTRNR2L4, MIR6126, C16orf90, MMP25, IL32, ZSCAN10, ZNF213-AS1, ZNF205, ZNF200, MEFV, ZNF75A, ZSCAN32, ZNF597, NAA60, NLRC3, SLX4, ZNF263, ZNF174, CLUAP1, DNASE1, TRAP1, CASP16P
engchuan_15_ASD_discovery_controls-controlB467864_1007874035
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2709498
CNV End: 2743531
CNV Size: 34034
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PRSS27, SRRM2-AS1
engchuan_15_ASD_discovery_controls-controlB542562_1007854322
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5526243
CNV End: 5585802
CNV Size: 59560
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB644709_1007846503
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 75547
CNV End: 137510
CNV Size: 61964
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RHBDF1, MPG, NPRL3
engchuan_15_ASD_discovery_controls-controlB656745_1007841112
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3164963
CNV End: 3195766
CNV Size: 30804
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB884589_1007853691
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5722479
CNV End: 5806690
CNV Size: 84212
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB885849_1007872260
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5025541
CNV End: 5281290
CNV Size: 255750
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC02164, NAGPA-AS1, NAGPA, ALG1, C16orf89, EEF2KMT, ENPP7P14, RBFOX1
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 126744
CNV End: 157743
CNV Size: 31000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: HBZ, HBM, NPRL3
engchuan_15_ASD_discovery_controls-controlHABC_900270_900270
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1364166
CNV End: 1482836
CNV Size: 118671
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: C16orf91, RPS3AP2, UNKL, CLCN7, CCDC154
engchuan_15_ASD_discovery_controls-controlHABC_900304_900304
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 774098
CNV End: 828324
CNV Size: 54227
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, MSLNL, RPUSD1
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5479408
CNV End: 5654840
CNV Size: 175433
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8065, LINC01570, RBFOX1
engchuan_15_ASD_discovery_controls-controlHABC_900990_900990
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5067846
CNV End: 5175060
CNV Size: 107215
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ALG1, EEF2KMT, ENPP7P14
engchuan_15_ASD_discovery_controls-controlHABC_901062_901062
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2848355
CNV End: 2951034
CNV Size: 102680
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PRSS22, RPL23AP86, FLYWCH1, FLYWCH2
girirajan_13b_ASD_discovery_controls-37904101339
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 551637
CNV End: 1257494
CNV Size: 705858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PRR35, NHLRC4, WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, MSLN, MIR662, CHTF18, GNG13, SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, CAPN15, PIGQ, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, MSLNL, LMF1-AS1, SOX8, SSTR5-AS1, TPSB2, WDR90, RPUSD1, LMF1, CACNA1H
kanduri_15_ASD_discovery_controls-control_split1307
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3707747
CNV End: 3718848
CNV Size: 11102
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: DNASE1, TRAP1
kanduri_15_ASD_discovery_controls-control_split1892
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6836312
CNV End: 7014662
CNV Size: 178351
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split1932
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6807461
CNV End: 6838398
CNV Size: 30938
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: -
kanduri_15_ASD_discovery_controls-control_split408
Clinical Profile:
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2005563
CNV End: 2074219
CNV Size: 68657
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: Unknown
Gene Content: GFER, NDUFB10, NOXO1, NPW, RNF151, RPS2, SYNGR3, TBL3, ZNF598
krumm_13_ASD_discovery_controls-control12826.s1
Clinical Profile:
Unaffected sibling from SSC quad family 12826. SRS score of 42.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 404955
CNV End: 411578
CNV Size: 6624
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: NME4, DECR2
krumm_13_ASD_discovery_controls-control13018.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13018. SRS score of 41.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 4571560
CNV End: 4592367
CNV Size: 20808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_controls-control13398.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13398. SRS score of 42.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 2964520
CNV End: 3050546
CNV Size: 86027
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PKMYT1, PAQR4, LINC00514, CLDN9, CLDN6, TNFRSF12A, HCFC1R1, THOC6, KREMEN2, BICDL2, MMP25-AS1, MMP25
krumm_15_ASD_discovery_controls-control11391.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 47429
CNV End: 93325
CNV Size: 45897
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: SNRNP25, POLR3K, RHBDF1, MPG, NPRL3
krumm_15_ASD_discovery_controls-control11979.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3541824
CNV End: 3565036
CNV Size: 23213
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control12154.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 346147
CNV End: 461497
CNV Size: 115351
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MRPL28, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3
krumm_15_ASD_discovery_controls-control12826.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 404955
CNV End: 411578
CNV Size: 6624
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NME4, DECR2
krumm_15_ASD_discovery_controls-control12931.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3057309
CNV End: 3069355
CNV Size: 12047
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_15_ASD_discovery_controls-control13018.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 4571560
CNV End: 4594803
CNV Size: 23244
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_controls-control13398.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3021554
CNV End: 3030814
CNV Size: 9261
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: TNFRSF12A, HCFC1R1, THOC6, BICDL2
krumm_15_ASD_discovery_controls-control13973.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
krumm_15_ASD_discovery_controls-control14343.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3057032
CNV End: 3069355
CNV Size: 12324
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MMP25-AS1, MMP25, IL32
lal_13_EP_discovery_controls-control310001598
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37
Gene Content: -
lal_13_EP_discovery_controls-control310002253
Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: NA
CNV End: NA
CNV Size: 41000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37
Gene Content: -
levy_11_ASD_discovery_controls-12154.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 345989
CNV End: 444447
CNV Size: 98459
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MRPL28, AXIN1, TMEM8A, NME4, DECR2, RAB11FIP3
levy_11_ASD_discovery_controls-12370.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1782881
CNV End: 1815512
CNV Size: 32632
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: IGFALS, SPSB3, NUBP2, HAGH
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control35
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control36
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control37
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control38
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control39
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37
Gene Content: -
nord_11_ASD_discovery_controls-04C27669
Primary Diagnosis: Control
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 142536
CNV End: 156287
CNV Size: 13752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Unknown
Gene Content: HBZ, HBM
nord_11_ASD_discovery_controls-04C28486
Primary Diagnosis: Control
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3644364
CNV End: 3659228
CNV Size: 14865
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Unknown
Gene Content: DNASE1, TRAP1
poultney_13_ASD_discovery_controls-control04C35887A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3655372
CNV End: 3666120
CNV Size: 10749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
poultney_13_ASD_discovery_controls-control05C43337
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 3655372
CNV End: 3666120
CNV Size: 10749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: DNASE1, TRAP1
sanders_11_ASD_discovery_controls-11027.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11032.s1
Primary Diagnosis: Control (matched sibling)
Age: 3.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 169745
CNV End: 175654
CNV Size: 5910
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11041.s1
Primary Diagnosis: Control (matched sibling)
Age: 15.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11047.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 4367179
CNV End: 4395326
CNV Size: 28148
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: CORO7-PAM16, CORO7, VASN
sanders_11_ASD_discovery_controls-11064.s1
Primary Diagnosis: Control (matched sibling)
Age: 10
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11073.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11096.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2607623
CNV End: 2664086
CNV Size: 56464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ERVK13-1, PDPK2P
sanders_11_ASD_discovery_controls-11114.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11124.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11172.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3164963
CNV End: 3193850
CNV Size: 28888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11212.s1
Primary Diagnosis: Control (matched sibling)
Age: 19.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11234.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11247.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11263.s1
Primary Diagnosis: Control (matched sibling)
Age: 15.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2607623
CNV End: 2675255
CNV Size: 67633
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ERVK13-1, PDPK2P
sanders_11_ASD_discovery_controls-11284.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.1
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11291.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 171987
CNV End: 177894
CNV Size: 5908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: HBA2, HBA1
sanders_11_ASD_discovery_controls-11301.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11305.s1
Primary Diagnosis: Control (matched sibling)
Age: 18.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11339.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 155036
CNV End: 165863
CNV Size: 10828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: HBM, HBZP1
sanders_11_ASD_discovery_controls-11349.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11357.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.7
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11381.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11399.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2639208
CNV End: 2649782
CNV Size: 10575
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11414.s1
Primary Diagnosis: Control (matched sibling)
Age: 14.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3696240
CNV End: 3713733
CNV Size: 17494
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11425.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 326781
CNV End: 331927
CNV Size: 5147
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11436.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 5625043
CNV End: 5632754
CNV Size: 7712
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: MIR8065, RBFOX1
sanders_11_ASD_discovery_controls-11447.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11453.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2460602
CNV End: 2476653
CNV Size: 16052
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: TEDC2, MIR6768, NTN3, TBC1D24
sanders_11_ASD_discovery_controls-11470.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2644500
CNV End: 2649782
CNV Size: 5283
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11475.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11485.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11497.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 611142
CNV End: 749273
CNV Size: 138132
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: WFIKKN1, METTL26, RHBDL1, STUB1, JMJD8, METRN, CCDC78, HAGHL, RAB40C, MCRIP2, RHOT2, WDR24, FBXL16, FAM173A, CIAO3, WDR90
sanders_11_ASD_discovery_controls-11502.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2601372
CNV End: 2675255
CNV Size: 73884
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: PDPK1, ERVK13-1, PDPK2P
sanders_11_ASD_discovery_controls-11509.s1
Primary Diagnosis: Control (matched sibling)
Age: 20.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11511.s1
Primary Diagnosis: Control (matched sibling)
Age: 9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11564.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2687070
CNV Size: 38203
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ERVK13-1, KCTD5
sanders_11_ASD_discovery_controls-11567.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11629.s1
Primary Diagnosis: Control (matched sibling)
Age: 11
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2607623
CNV End: 2649782
CNV Size: 42160
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11696.s1
Primary Diagnosis: Control (matched sibling)
Age: 16.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11718.s1
Primary Diagnosis: Control (matched sibling)
Age: 23.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173122
CNV End: 175654
CNV Size: 2533
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11723.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649755
CNV Size: 888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11766.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2644500
CNV End: 2682264
CNV Size: 37765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11827.s1
Primary Diagnosis: Control (matched sibling)
Age: 20
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11843.s1
Primary Diagnosis: Control (matched sibling)
Age: 16.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11905.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3164963
CNV End: 3193850
CNV Size: 28888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11917.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2315287
CNV End: 2318168
CNV Size: 2882
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11933.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 785298
CNV End: 802137
CNV Size: 16840
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: CHTF18, GNG13, RPUSD1
sanders_11_ASD_discovery_controls-11933.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11979.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3543549
CNV End: 3576300
CNV Size: 32752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12096.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12150.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12150.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12185.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12223.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12224.s1
Primary Diagnosis: Control (matched sibling)
Age: 6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 130720
CNV End: 137510
CNV Size: 6791
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12231.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3164963
CNV End: 3193850
CNV Size: 28888
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12241.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3159050
CNV End: 3193850
CNV Size: 34801
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12272.s1
Primary Diagnosis: Control (matched sibling)
Age: 9.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 562698
CNV End: 583125
CNV Size: 20428
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: PRR35, NHLRC4, PIGQ
sanders_11_ASD_discovery_controls-12317.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12341.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 153255
CNV End: 162650
CNV Size: 9396
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: HBZ, HBM
sanders_11_ASD_discovery_controls-12370.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 1778838
CNV End: 1813519
CNV Size: 34682
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: EME2, IGFALS, SPSB3, NUBP2, HAGH
sanders_11_ASD_discovery_controls-12383.s1
Primary Diagnosis: Control (matched sibling)
Age: 12.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12409.s1
Primary Diagnosis: Control (matched sibling)
Age: 9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12424.s1
Primary Diagnosis: Control (matched sibling)
Age: 6.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12517.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12555.s1
Primary Diagnosis: Control (matched sibling)
Age: 18.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12575.s1
Primary Diagnosis: Control (matched sibling)
Age: 18.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12638.s1
Primary Diagnosis: Control (matched sibling)
Age: 17.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12708.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 5486964
CNV End: 5499932
CNV Size: 12969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12836.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173626
CNV End: 175654
CNV Size: 2029
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12865.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12871.s1
Primary Diagnosis: Control (matched sibling)
Age: 17.4
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12931.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 3059031
CNV End: 3072281
CNV Size: 13251
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RNU1-125P, MMP25-AS1, MMP25, IL32
sanders_11_ASD_discovery_controls-12964.s1
Primary Diagnosis: Control (matched sibling)
Age: 8.5
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 173619
CNV End: 175654
CNV Size: 2036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12972.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.2
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 1052701
CNV End: 1087354
CNV Size: 34654
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: SSTR5, SSTR5-AS1
sanders_11_ASD_discovery_controls-13006.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.5
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 2648868
CNV End: 2649782
CNV Size: 915
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-13018.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 4564858
CNV End: 4593451
CNV Size: 28594
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-13195.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.1
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 5468258
CNV End: 5476707
CNV Size: 8450
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-13266.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.9
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 6200970
CNV End: 6225530
CNV Size: 24561
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_12
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 1060513
CNV End: 1944155
CNV Size: 883643
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SSTR5, C1QTNF8, TPSG1, TPSAB1, TPSD1, TPSP2, RPS20P2, TSR3, C16orf91, RPS3AP2, PTX4, MIR3177, NME3, MRPS34, EME2, IGFALS, LINC02124, MSRB1, SSTR5-AS1, TPSB2, PRSS29P, BAIAP3, GNPTG, UNKL, CLCN7, TELO2, TMEM204, CRAMP1, JPT2, MAPK8IP3, SPSB3, NUBP2, HAGH, LINC00254, HS3ST6, RPL3L, CACNA1H, UBE2I, CCDC154, IFT140, FAHD1, MEIOB
brandler_18_ASD_discovery_controls-controlSSC07841
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 485235
CNV End: 489654
CNV Size: 4420
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_controls-controlSSC04855
Primary Diagnosis: control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 2060812
CNV End: 2061573
CNV Size: 762
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_18_ASD/SCZ_discovery_controls-controlCON1002
Clinical Profile:
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I , et al. (2018)Primary Diagnosis: Control
Age: 42 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 5120206
CNV End: 5451254
CNV Size: 331049
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LINC02164, SNRPCP20, ENPP7P14, RBFOX1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0005
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6638297
CNV End: 6813605
CNV Size: 175309
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RBFOX1, RNU7-99P
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0783
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6144839
CNV End: 6389790
CNV Size: 244952
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1897
Clinical Profile:
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
Cognitive Profile:
-
Kushima I et al. (2022)Primary Diagnosis: Control
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 6589026
CNV End: 6708633
CNV Size: 119608
Validation Description: qRT-PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Genes associated with 16p13.3(0 Models)
Sort By:
| CACNA1H | 15 / 34 | Rare Single Gene Mutation |
Score2 |
| CASKIN1 | 5 / 8 | Rare Single Gene Mutation, Functional |
Score2 |
| CREBBP | 16 / 41 | Rare Single Gene Mutation, Syndromic, Genetic Association |
Score1 |
| METTL26 | 2 / 2 | Rare Single Gene Mutation |
Score2 |
| PRR25 | 2 / 2 | Rare Single Gene Mutation |
Score3 |
| RBFOX1 | 13 / 44 | Rare Single Gene Mutation, Genetic Association, Functional |
Score2 |
| SRRM2 | 12 / 13 | Rare Single Gene Mutation, Syndromic |
Score2 |
| TRAF7 | 6 / 10 | Rare Single Gene Mutation, Syndromic |
Score1 |
| TSC2 | 27 / 56 | Rare Single Gene Mutation, Syndromic, Genetic Association, Functional |
Score1 |