Copy Number Variants / 16p11.2

16p11.2

Case population data
Control population data
Type
Deletion-Duplication
Average Length
405421
Range
29692499-30792499
Associated Human Genes
BCKDK, KCTD13, MAPK3, SEZ6L2, SRCAP
Associated Animal Models
Df(7)_10_CHT, Df(7)_11_HT, Df(7)_1_HT, Df(7)_1_HT-Drd1a-Drd2marker, Df(7)_1_HT_CTEP, Df(7)_3_HT, Df(7)_3_HT-Drd2EGFP, Df(7)_3_HT_Risperidone, Df(7)_4_HT, Df(7)_5_HT, Df(7)_6_HT, Df(7)_7_HT, Df(7)_8_HT, Df(7)_9_HT, Dp(7)_2_HT
Autism Reports
88
Populations
108 (102 case / 6 control)
Individuals
1462 (1146 case / 316 control)
Summary

Copy number variants in the 16p11.2 locus are among the most freqeuntly observed in autistic populations. These CNVs are typically at least 500,000 base pairs in length, with start and end points at ~29.56 Mb and ~30.11 Mb, respectively. Deletions are observed more frequently than duplications at this locus in autistic individuals.

Reports related to 16p11.2 (88 Reports)
# Type Title Author, Year
1 Major Strong association of de novo copy number mutations with autism. Sebat J , et al. (2007)
2 Major Recurrent 16p11.2 microdeletions in autism. Kumar RA , et al. (2007)
3 Major Association between microdeletion and microduplication at 16p11.2 and autism. Weiss LA , et al. (2008)
4 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
5 Major Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Christian SL , et al. (2008)
6 Major Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Glessner JT , et al. (2009)
7 Major Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism ... Fernandez BA , et al. (2009)
8 Major Microduplications of 16p11.2 are associated with schizophrenia. McCarthy SE , et al. (2009)
9 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , et al. (2010)
10 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
11 Major Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. Schaefer GB , et al. (2010)
12 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
13 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
14 Major Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Bremer A , et al. (2011)
15 Minor Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Shen Y , et al. (2011)
16 Major Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Crepel A , et al. (2011)
17 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
18 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
19 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)
20 Major Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
21 Minor Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. Chung BH , et al. (2011)
22 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)
23 Major 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)
24 Minor Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. Gannon WT , et al. (2011)
25 Minor Age- and gender-dependent obesity in individuals with 16p11.2 deletion. Yu Y , et al. (2011)
26 Major Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. Ciuladait Z , et al. (2011)
27 Major Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
28 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
29 Major Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. Tabet AC , et al. (2012)
30 Major Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. O'Roak BJ , et al. (2012)
31 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
32 Major ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. Kino T , et al. (2012)
33 Major KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Golzio C , et al. (2012)
34 Minor Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Davis LK , et al. (2012)
35 Minor Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization. Laffin JJ , et al. (2012)
36 Minor Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Bartnik M , et al. (2012)
37 Major Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. Raca G , et al. (2012)
38 Minor Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. Newbury DF , et al. (2012)
39 Minor Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Van Den Bossche MJ , et al. (2012)
40 Minor Infantile spasms are associated with abnormal copy number variations. Tiwari VN , et al. (2012)
41 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
42 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
43 Minor Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Beunders G , et al. (2013)
44 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
45 Minor Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
46 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
47 Major Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Bna F , et al. (2013)
48 Major Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
49 Minor Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
50 Minor New insights into replication clamp unloading. Ulrich HD (2013)
51 Major High rate of disease-related copy number variations in childhood onset schizophrenia. Ahn K , et al. (2013)
52 Minor Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Stobbe G , et al. (2013)
53 Major An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3. Pebrel-Richard C , et al. (2013)
54 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
55 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
56 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
57 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)
58 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
59 Major Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G , et al. (2014)
60 Minor Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region. Egger JI , et al. (2014)
61 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
62 Major 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Reinthaler EM , et al. (2014)
63 Major The clinical significance of small copy number variants in neurodevelopmental disorders. Asadollahi R , et al. (2014)
64 Major Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , et al. (2014)
65 Major Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. Moreira DP , et al. (2014)
66 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
67 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
68 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
69 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
70 Minor A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. Fedorenko E , et al. (2015)
71 Minor Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... Shin S , et al. (2015)
72 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
73 Minor RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Soueid J , et al. (2016)
74 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
75 Minor The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Wenger TL , et al. (2016)
76 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
77 Major Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Tropeano M , et al. (2016)
78 Major Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Fry AE , et al. (2016)
79 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
80 Major Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. Mosca SJ , et al. (2016)
81 Minor Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor. Breckpot J , et al. (2016)
82 Minor Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Picinelli C , et al. (2016)
83 Major Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
84 Major Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Wolfe K , et al. (2016)
85 Major Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Pfundt R , et al. (2016)
86 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017)
87 Major Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. Guo H , et al. (2017)
88 Minor Copy Number Variations independently induce Autism Spectrum Disorder. Xie Y , et al. (2017)
Show all Case Details Show all Cohort Details

16p11.2

Description:

Patients with clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.

Diagnosis:

ASD

Yu Y , et al. (2011)
Cohort Size: 2200

Age Min: 13
Age Max: 252
Average: 103.78571428571

Male: 54
Female: 46
Unknown: -
CNV Size: 600000

Deletion: 10
Duplication: 0

Total CNV: 10
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K
Software: Nexus V5
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 604000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

Validation based on familial presence of CNV

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

16p11.2

Description:

ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs

Diagnosis:

Diagnosis of ASD based on DSM-IV-TR criteria

Guo H , et al. (2017)
Cohort Size: 546

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1150040

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina 370K or 660K BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: Chinese Han

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 600139

Deletion: 1
Duplication: 4

Total CNV: 5
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Genome-Wide Human SNP Array 6
Software: Affymetrix Genotyping Console v4.1
Algorithm: -
Geographical Ancestry: Han Chinese

16p11.2

Description:

Autistic male proband recruited by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH)

Diagnosis:

Diagnosis of ASD with developmental delay, facial and genital dysmorphisms, and partial resistance to glucocorticoids, thyroid hormones, and possibly androgens.

Kino T , et al. (2012)
Cohort Size: 1

Age Min: 84
Age Max: 84
Average: 84

Male: 100
Female: -
Unknown: -
CNV Size: 1100000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, qPCR

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

16p11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 71
Female: 29
Unknown: -
CNV Size: 636716

Deletion: 8
Duplication: 5

Total CNV: 13
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 244K)

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

16p11.2

Description:

Subjects recruited in the ‘Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the ‘Fondation Lejeune’ over a period of 3 years (2009–2011).

Diagnosis:

Cases assessed with ADI-R

Nava C , et al. (2013)
Cohort Size: 194

Age Min: 90
Age Max: 235
Average: 160.5

Male: 100
Female: -
Unknown: -
CNV Size: 694000

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina cytoSNP-12 (n=147), 660W-Quad (n=27), and 370CNV-Quad (n=20)
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France

16p11.2

Description:

Patients recruited and consented for a study of pediatric motor speech disorders

Diagnosis:

Childhood apraxia of speech (CAS). Patients assessed using the Madison Speech Assessment Protocol (MSAP). Case 1 reportedly has social difficulties (autistic features), case 2 has ADHD.

Raca G , et al. (2012)
Cohort Size: 2

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 562000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Roche NimbleGen custom-designed array (case 1), Agilent 180K custom array (case 2)
Software: NimbleScan and SignalMap (case 1)
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).

Diagnosis:

ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)

Shen Y , et al. (2010)
Cohort Size: 848

Age Min: -
Age Max: -
Average: -

Male: 83
Female: 17
Unknown: -
CNV Size: 679000

Deletion: 5
Duplication: 1

Total CNV: 6
Discovery Method:

aCGH (n=589) or array SNP (n=108)

Validation Method:

None

Platform: Agilent 244A, Affy NspI + Affy SytI, or Affy 5
Software: CGH Analytics or DNA Analytics software (aCGH)
Algorithm: BRLMM & CNAT4 (Affy 500K); Partek Genomic Suite (Affy 5.0)
Geographical Ancestry: -

16p11.2

Description:

Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.

Diagnosis:

All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).

Wolfe K , et al. (2016)
Cohort Size: 202

Age Min: 228
Age Max: 744
Average: 388.8

Male: 40
Female: 60
Unknown: -
CNV Size: 748579

Deletion: 1
Duplication: 4

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

qPCR, FISH, or QF-PCR

Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 858999

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

WGS

Validation Method:

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

Platform: Complete Genomics (n=1233), Illumina HiSeq 2000 (n=561), HiSeq X (n=3411)
Software: -
Algorithm: -
Geographical Ancestry: N/A

16p11.2

Description:

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

Diagnosis:

ASD (ADI-R and ADOS, Module 3)

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 227691

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affy 6
Software: Affymetrix GTC v2.1, Birdseed v2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian

16p11.2

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 336642

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 250K Nsp or Syt microarray
Software: CNAG v2
Algorithm: HMM
Geographical Ancestry: NA

16p11.2

Description:

Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago

Diagnosis:

Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.

Davis LK , et al. (2012)
Cohort Size: 1

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 998252

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human 1M-Duo DNA Analysis Bead Chip
Software: CNVision
Algorithm: PennCNV, QuantiSNP, Gnosis
Geographical Ancestry: NA

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 120
Age Max: 120
Average: 120

Male: -
Female: 100
Unknown: -
CNV Size: 290425

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix Genome-Wide Human SNP 6
Software: -
Algorithm: Birdsuite, iPattern, Genotyping Console
Geographical Ancestry: 68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian

16p11.2

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: 761424

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3
Algorithm: -
Geographical Ancestry: European

16p11.2

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 80
Female: 20
Unknown: -
CNV Size: 747661

Deletion: 4
Duplication: 4

Total CNV: 8
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

16p11.2

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 72
Female: 24
Unknown: 3
CNV Size: 736162

Deletion: N/A
Duplication: N/A

Total CNV: 24
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

16p11.2

Description:

180 AGRE samples (19 simplex and 161 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.

Diagnosis:

ASD

Kumar RA , et al. (2007)
Cohort Size: 180

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 13
Unknown: 38
CNV Size: 500000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH, microsatellite analysis, aCGH

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: North American

16p11.2

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: 17
Female: 17
Unknown: 67
CNV Size: 757000

Deletion: 3
Duplication: 2

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

16p11.2

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: -
Female: 100
Unknown: -
CNV Size: 617816

Deletion: 0
Duplication: 1

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 985714

Deletion: 6
Duplication: 3

Total CNV: 9
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), and/or array SNP (Affy 500K)

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

16p11.2

Description:

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

Diagnosis:

Cases classified according to ADOS and ADI-R

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

Age Min: 100
Age Max: 104
Average: 102

Male: 100
Female: -
Unknown: -
CNV Size: 680461

Deletion: 4
Duplication: 2

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, and/or long-range PCR

Platform: Illumina 1M v.1 and v3. arrays
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

16p11.2

Description:

118 ASD patients from simplex families, 77 from multiplex families (AGRE, NIMH, University of Tampere, Fay J. Lindner Center for Autism and Developmental 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: 502574

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

ROMA

Validation Method:

390K ROMA or Agilent 244K aCGH, G-banded karyotyping, FISH, and/or microsatellite

Platform: -
Software: S-PLUS
Algorithm: HMM
Geographical Ancestry: -

16p11.2

Description:

Father and son from a three-generation Chinese family with ASD and language delay.

Diagnosis:

Diagnosis of ASD based upon DSM-IV criteria.

Shen Y , et al. (2011)
Cohort Size: 2

Age Min: 144
Age Max: 492
Average: 318

Male: 100
Female: -
Unknown: -
CNV Size: 605817

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 244K
Software: DNA Analytics
Algorithm: -
Geographical Ancestry: Chinese

16p11.2

Description:

Three affected siblings from an autism multiplex family born to non-consanguineous parents.

Diagnosis:

Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.

Tabet AC , et al. (2012)
Cohort Size: 3

Age Min: 252
Age Max: 252
Average: 252

Male: 100
Female: -
Unknown: -
CNV Size: 847000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina HumanCNV370-Duo BeadChip
Software: BeadStudio v3.2
Algorithm: CNV Partition v3.1.1, Penn CNV
Geographical Ancestry: Mixed ethnic background (father Caucasian, mother from Mauritius)

16p11.2

Description:

Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)

Diagnosis:

Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.

Tiwari VN , et al. (2012)
Cohort Size: 13

Age Min: 24
Age Max: 24
Average: 24

Male: -
Female: 100
Unknown: -
CNV Size: 595365

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 610Quad
Software: Illumina BeadStudio, SVS (Single Nucleotide Polymorphism and Variation Suite)
Algorithm: Algorithm implemented by SVS (Single Nucleotide Polymorphism and Variation Suite)
Geographical Ancestry: NA

16p11.2

Description:

Discovery cohort of Canadian individuals with ASD

Diagnosis:

ASD

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

Age Min: 41
Age Max: 41
Average: 41

Male: 100
Female: -
Unknown: -
CNV Size: 1180482

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, and/or solid phase hybridization

Validation Method:

None

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

16p11.2

Description:

AGRE: ASD case subjects from 751 families

Diagnosis:

1252 cases diagnosed with autism, 123 with broad spectrum autism, 66 with NQA (not quite autism)

Weiss LA , et al. (2008)
Cohort Size: 1441

Age Min: 24
Age Max: 108
Average: 68.571428571429

Male: 75
Female: 25
Unknown: -
CNV Size: 593000

Deletion: 5
Duplication: 7

Total CNV: 12
Discovery Method:

Array SNP

Validation Method:

MLPA

Platform: Affy 5
Software: Affymetrix CNAT 4
Algorithm: COPPER, Birdseye
Geographical Ancestry: -

16p11.2

Description:

Patients with no clinical indication of ASD out of 6680 consecutive clinical referred diagnostic cases subjected to aCGH analysis.

Diagnosis:

Developmental delay and intellectual disability and/or dysmorphism or mulitple congenital anomalies

Yu Y , et al. (2011)
Cohort Size: 4480

Age Min: 13
Age Max: 252
Average: 103.78571428571

Male: 54
Female: 46
Unknown: -
CNV Size: 600000

Deletion: 18
Duplication: 0

Total CNV: 18
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K
Software: Nexus V5
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 573000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 580000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

MLPA, FISH

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

16p11.2

Description:

Patients from the Leuven Autism Research (LauRes) consortium

Diagnosis:

Diagnosis of non-syndromic ASD (DSM-IV criteria); normal karyotype. Exclusion criteria: Fragile-X syndrome & profound-to-moderate mental retardation

Crepel A , et al. (2011)
Cohort Size: 363

Age Min: 216
Age Max: 216
Average: 216

Male: 50
Female: -
Unknown: 50
CNV Size: 600000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

qPCR

Validation Method:

Affy 6.0, qPCR

Platform: Roche LightCycler 480
Software: LightCycler 480 SW 1.5
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

ASD cases screened for ~118 kb deletions in the 16p11.2 locus containing the KCTD13 gene

Diagnosis:

Diagnosis of autism or ASD based on meeting ADOS diagnostic criteria

Golzio C , et al. (2012)
Cohort Size: 518

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 300000

Deletion: 8
Duplication: 2

Total CNV: 10
Discovery Method:

MLPA, aCGH

Validation Method:

qPCR, aCGH

Platform: ABI 3730xl DNA Analyser (MLPA), custom Nimblegen array (aCGH)
Software: GeneMarker Software Trial Version 1.91 (MLPA), Nimblescan software v2.6
Algorithm: -
Geographical Ancestry: NA

16p11.2

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: 765304

Deletion: 5
Duplication: 0

Total CNV: 5
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: -

16p11.2

Description:

Participants recruited and consented for a study of pediatric motor speech disorders

Diagnosis:

Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.

Laffin JJ , et al. (2012)
Cohort Size: 24

Age Min: 36
Age Max: 36
Average: 36

Male: -
Female: -
Unknown: 100
CNV Size: 568305

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
Software: CytoSure Interpret V3.4.3
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families

Diagnosis:

ASD/autism

O'Roak BJ , et al. (2012)
Cohort Size: 122

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 604414

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Exome capture

Validation Method:

aCGH, Sanger sequencing

Platform: Capture with NimbleGen EZ Exome V2.0, sequencing with Illumina GAIIx or HiSeq2000
Software: mrsFAST aligner
Algorithm: HMM
Geographical Ancestry: NA

16p11.2

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: 1944227

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

WES

Validation Method:

Array SNP (Affymetrix CytoScan HD)

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

16p11.2

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children in Toronto, Ontario; McMaster University, Hamilton, Ontario; Memorial University of Newfoundland, St. John's, Newfoundland); the majority of these cases had been previously genotyped by SNP arrays with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were exclu

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: 78
Female: 22
Unknown: -
CNV Size: 868405

Deletion: 4
Duplication: 5

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

16p11.2

Description:

Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)

Diagnosis:

All cases fulfilled DSM-V criteria for autism

Soueid J , et al. (2016)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: 25
Female: -
Unknown: 75
CNV Size: 795000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics 2.7M and CytoScan arrays
Software: Affymetrix Chromosome Analysis Suite (CHAS)
Algorithm: -
Geographical Ancestry: Lebanon

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 240
Age Max: 240
Average: 240

Male: 100
Female: -
Unknown: -
CNV Size: 535000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-3v1
Software: NimbleScan 2.5, DNA Analytics 4
Algorithm: ADM-1
Geographical Ancestry: N/A

16p11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 530466

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p11.2

Description:

230 AGRE (11 simplex and 219 multiplex), 302 NIMH (57 simplex and 245 multiplex). Sample overlap with Weiss et al., 2008 16p11.2 CNV report.

Diagnosis:

ASD

Kumar RA , et al. (2007)
Cohort Size: 532

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 13
Unknown: 38
CNV Size: 500000

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

qPCR

Validation Method:

FISH, microsatellite analysis, aCGH

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: North American

16p11.2

Description:

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

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 874089

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Array SNP

Validation Method:

Solid phase hybridization

Platform: Affymetrix Human Genome-Wide SNP array 6
Software: Affymetrix power tools software v1.12
Algorithm: GLAD, GADA, & BEAST
Geographical Ancestry: Ashkenazi Jewish

16p11.2

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 ± 1.5 (mean verbal IQ, 81.9 ± 1.7; mean non-verbal IQ, 88.4 ± 1.4)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 70
Female: 30
Unknown: -
CNV Size: 736720

Deletion: 65
Duplication: 109

Total CNV: 174
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina 1M v1 (n=334) or Illumina 1M v3 (n=840)
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&

16p11.2

Description:

ASD cases from deCODE, Iceland

Diagnosis:

ASD subjects

Weiss LA , et al. (2008)
Cohort Size: 299

Age Min: 24
Age Max: 108
Average: 68.571428571429

Male: 75
Female: 25
Unknown: -
CNV Size: 593000

Deletion: 3
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: HumanHap300 BeadChip
Software: -
Algorithm: HMM
Geographical Ancestry: Icelandic

16p11.2

Description:

ASD probands referred to the Clinical Genetics Service for genetic testing

Diagnosis:

Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Xie Y , et al. (2017)
Cohort Size: 64

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 577588

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)

Platform: Affymetrix CytoScan HD
Software: ChAS
Algorithm: -
Geographical Ancestry: Chinese

16p11.2

Description:

Affected individuals in a family (two siblings and their mother) with intellectual disability and epilepsy

Diagnosis:

Intellectual disability (ID) and epilepsy (EP)

Ulrich HD (2013)
Cohort Size: 3

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 700000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 1M array
Software: Genome Workbench
Algorithm: -
Geographical Ancestry: N/A

16p11.2

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

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

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1767484

Deletion: 13
Duplication: 13

Total CNV: 26
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 45
Female: 9
Unknown: 45
CNV Size: 530464

Deletion: 3
Duplication: 2

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, and/or Array SNP

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 530464

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

16p11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 675829

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

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

16p11.2

Description:

ASD patients from AGRE (692), Columbia Univ. (32), Inst. Child Health (28), NIMHAU (49), North Shore Univ. .Hospital (10), Trinity College Dublin (60), and Vanderbilt Univ. (63)

Diagnosis:

ASD

McCarthy SE , et al. (2009)
Cohort Size: 934

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 684197

Deletion: 7
Duplication: 4

Total CNV: 11
Discovery Method:

Array SNP, aCGH

Validation Method:

aCGH (Nimble HD2)

Platform: ROMA 85K, Nimble HD2, Affy 500K
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

Bipolar disorder patients from GEM (161), WTCCC (1697), and GAIN (1457)

Diagnosis:

Bipolar disorder

McCarthy SE , et al. (2009)
Cohort Size: 3315

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 600000

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

Array SNP, aCGH

Validation Method:

aCGH (Agilent 244A) or array SNP (Affy 500K)

Platform: ROMA 85K, Nimble HD2, Affy 5
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

Patients from Cardiff Univ. (471), CATIE (738), Columbia (19), McLean Hospital (161), NIMH (83), New York Univ. (259), & Univ. Washington (175)

Diagnosis:

Schizophrenia

McCarthy SE , et al. (2009)
Cohort Size: 1906

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 600000

Deletion: 1
Duplication: 12

Total CNV: 13
Discovery Method:

Array SNP, aCGH

Validation Method:

aCGH (Nimble HD2 or Agilent 244K)

Platform: ROMA 85K, Nimble HD2, Affy 500K
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 55
Female: 45
Unknown: -
CNV Size: 524852

Deletion: 3
Duplication: 3

Total CNV: 6
Discovery Method:

WES

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

FISH

Validation Method:

aCGH

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Diagnosis:

Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Soueid J , et al. (2016)
Cohort Size: 35

Age Min: -
Age Max: -
Average: -

Male: 25
Female: -
Unknown: 75
CNV Size: 306000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics 2.7M and CytoScan arrays
Software: Affymetrix Chromosome Analysis Suite (CHAS)
Algorithm: -
Geographical Ancestry: Lebanon

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 240
Age Max: 240
Average: 240

Male: 100
Female: -
Unknown: -
CNV Size: 524646

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

MLPA or aCGH

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 660000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH (n=18) or array SNP (n=97)

Validation Method:

None

Platform: BlueGnome CytoChip v2 (n=18), Affymetrix 6.0 (n=69), or Affymetrix Cytoscan HD (n=28)
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A

16p11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 25
Female: 75
Unknown: -
CNV Size: 980000

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

FISH, microsatellite, qPCR

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

16p11.2

Description:

Cases with 16p11.2 deletions from the Simons Variation in Individuals Project (Simons VIP) cohort recruited from attendees of the 2013 Simons VIP Connect Family Meeting in Orlando, FL

Diagnosis:

Nine cases met the three American Speech and Hearing Association (ASHS)-based consensus diagnostic criteria for childhood apraxia of speech (CAS); the limited verbal output for the remaining two participants precluded speech diagnosis. Neuropsychological testing using Kaufmann Brief Intelligence Test (KBIT), Peabody Picture Vocabulary Test (PPVT), Test for Reception of Grammar (TROG), rapid automatized naming (RAN), and Bruininks-Oseretsky Test (BOT).

Fedorenko E , et al. (2015)
Cohort Size: 11

Age Min: 64
Age Max: 216
Average: 127.90909090909

Male: 73
Female: 27
Unknown: -
CNV Size: 600000

Deletion: 11
Duplication: 0

Total CNV: 11
Discovery Method:

N/A

Validation Method:

N/A

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

16p11.2

Description:

ASD cases collected through multicenter Canadian research team

Diagnosis:

ASD and/or developmental delay

Fernandez BA , et al. (2009)
Cohort Size: 6

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 555000

Deletion: 3
Duplication: 3

Total CNV: 6
Discovery Method:

Array SNP or solid phase hybridization

Validation Method:

qPCR, FISH

Platform: Affy 500k, Affy 6.0, or Illumina 1M BeadChip
Software: -
Algorithm: dChip, CNAG, GEMCA (Affy 500K); Birdsuite, Partek Genomics Suite, Affymetrix GTC (Affy 6.0); Quanti-SNP, Penn CNV, iPattern (Illumina)
Geographical Ancestry: Canadian

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 38
Female: 10
Unknown: 53
CNV Size: 583059

Deletion: 15
Duplication: 34

Total CNV: 49
Discovery Method:

aCGH

Validation Method:

aCGH (Nimblegen 3x720K or Agilent 2x400K)

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

16p11.2

Description:

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

Diagnosis:

Developmental delay

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 850000

Deletion: 64
Duplication: 28

Total CNV: 92
Discovery Method:

N/A

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)

Pfundt R , et al. (2016)
Cohort Size: 1430

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1040748

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 43
Unknown: 14
CNV Size: 600000

Deletion: 0
Duplication: 5

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qRT-PCR, aCGH

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

16p11.2

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 508538

Deletion: 5
Duplication: 2

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 156
Age Max: 156
Average: 156

Male: 50
Female: 50
Unknown: -
CNV Size: 754025

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Array SNP, aCGH, and/or 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: Chromosome Analysis Suite, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Featu
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada

16p11.2

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: 72
Age Max: 72
Average: 72

Male: -
Female: 100
Unknown: -
CNV Size: 443000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

MLPA

Platform: Affymetrix 6.0, Cytogenetics 2.7, or CytoScan HD
Software: ChAS V.1.0.1
Algorithm: HMM
Geographical Ancestry: Predominantly European

16p11.2

Description:

Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study

Diagnosis:

Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).

Bna F , et al. (2013)
Cohort Size: 25

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 680000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH (n=11), array SNP (n=4), solid phase hybridization (n=10)

Validation Method:

FISH & MLPA

Platform: aCGH: Agilent 244K (n=2), Agilent 105K (n=3), Agilent 180K (n=4), OGT custom design 180K (n=2); array SNP: Affymetrix 250K NspI (n=2), Affymetrix 250K, Affymetrix Cyto-2.7 M (n=1); solid phase hybri
Software: -
Algorithm: -
Geographical Ancestry: N/A

16p11.2

Description:

ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

Diagnosis:

Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Gazzellone MJ , et al. (2014)
Cohort Size: 104

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 232162

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR or Taqman assay

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 850000

Deletion: 6
Duplication: 9

Total CNV: 15
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen 135K array)

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

16p11.2

Description:

Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)

Diagnosis:

Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol

Girirajan S , et al. (2013)
Cohort Size: 243

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 455501

Deletion: 10
Duplication: 19

Total CNV: 29
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent hotspot 2x400K)

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 45
Female: 9
Unknown: 45
CNV Size: 530464

Deletion: 7
Duplication: 8

Total CNV: 15
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, and/or Array SNP

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

16p11.2

Description:

GAIN

Diagnosis:

Schizophrenia

McCarthy SE , et al. (2009)
Cohort Size: 2645

Age Min: -
Age Max: -
Average: -

Male: 63
Female: 37
Unknown: -
CNV Size: 600000

Deletion: 0
Duplication: 9

Total CNV: 9
Discovery Method:

Array SNP

Validation Method:

aCGH (Nimble HD2)

Platform: Affy 6
Software: -
Algorithm: -
Geographical Ancestry: 53.1% European American, 46.9% African American

16p11.2

Description:

ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions

Diagnosis:

ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.

Moreira DP , et al. (2014)
Cohort Size: 531

Age Min: 60
Age Max: 252
Average: 165.6

Male: 80
Female: 20
Unknown: -
CNV Size: 824000

Deletion: 1
Duplication: 4

Total CNV: 5
Discovery Method:

MLPA

Validation Method:

Array SNP

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Ethnically-mixed Brazilian

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 84
Age Max: 84
Average: 84

Male: 50
Female: 50
Unknown: -
CNV Size: 1990000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan 750K
Software: Chromosome Analysis Suite v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

16p11.2

Description:

Second-born child of healthy, non-consanguineous parents with no family history of speech delay, autistic disorders, and mental retardation

Diagnosis:

Diagnosis of PDD-NOS (according to DSM-IV) and childhood apraxia of speech (CAS)

Newbury DF , et al. (2012)
Cohort Size: 1

Age Min: 168
Age Max: 168
Average: 168

Male: 100
Female: -
Unknown: -
CNV Size: 546352

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K
Software: Agilent Feature Extraction v8.5, Agilent CGH Analytics v3.4
Algorithm: -
Geographical Ancestry: European (Caucasian)

16p11.2

Description:

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

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

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

Age Min: 60
Age Max: 72
Average: 66

Male: 100
Female: -
Unknown: -
CNV Size: 545500

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

16p11.2

Description:

Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada

Diagnosis:

Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 109 cases with rolandic epilepsy, 3 cases with atypical rolandic epilepsy.

Reinthaler EM , et al. (2014)
Cohort Size: 112

Age Min: -
Age Max: -
Average: -

Male: 43
Female: 43
Unknown: 14
CNV Size: 600000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qRT-PCR

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

16p11.2

Description:

Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales

Diagnosis:

All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)

Fry AE , et al. (2016)
Cohort Size: 80

Age Min: 84
Age Max: 84
Average: 84

Male: -
Female: 100
Unknown: -
CNV Size: 603000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization (n=56) or aCGH (n=24)

Validation Method:

Solid phase hybridization (Illumina), FISH

Platform: Illumina610-Quad SNP-array (n=20), Illumina OmniExpress SNP-array (n=36), or BlueGnome CytoChip ISCA 8x60k v2.0 array (n=24)
Software: Illumina BlueFuse Multi v3.1 (aCGH)
Algorithm: PennCNV (array-SNP)
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian

16p11.2

Description:

Two probands (one male, one female) with 16p11.2 deletions

Diagnosis:

1 patient with developmental delay, 1 patient with autism/autistic features & developmental delay

Ciuladait Z , et al. (2011)
Cohort Size: 2

Age Min: 55
Age Max: 84
Average: 69.5

Male: 50
Female: 50
Unknown: -
CNV Size: 542300

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

RT-PCR

Platform: Agilent 105K
Software: Feature Extraction, Genetic Workbench V5.0.14
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 156
Age Max: 156
Average: 156

Male: -
Female: 100
Unknown: -
CNV Size: 487879

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent ISCA 44K or 180K, Affymetrix 6
Software: Agilent DNA Analytics (aCGH); Birdsuite, iPattern, and Genotyping Console (array SNP)
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

Second child of healthy non-consanguineous parents with no relevant family history with some features reminiscent of juvenile neuronal ceroid-lipofuscinosis (JNCL) or Batten disease (OMIM 204200)

Diagnosis:

Developmental delay, retinis pigmentosa with progressive visual failure, ataxia, peripheral neuropathy, and behavioral difficulties

Pebrel-Richard C , et al. (2013)
Cohort Size: 1

Age Min: 192
Age Max: 192
Average: 192

Male: 100
Female: -
Unknown: -
CNV Size: 1700000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Agilent 180K
Software: Feature Extraction 10.5, DNA Analytics 4.0.76
Algorithm: ADM-2
Geographical Ancestry: France

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: 9
Age Max: 312
Average: 160.5

Male: 100
Female: -
Unknown: -
CNV Size: 726000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

BACs aCGH or FISH

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

16p11.2

Description:

Patients with DD, MR, or ASD referred by Children's Hospital, Boston

Diagnosis:

Children with developmental delay, mental retardation, and/or autism spectrum disorder without noted dysmorphic features

Weiss LA , et al. (2008)
Cohort Size: 512

Age Min: 24
Age Max: 108
Average: 68.571428571429

Male: 75
Female: 25
Unknown: -
CNV Size: 593000

Deletion: 5
Duplication: 4

Total CNV: 9
Discovery Method:

aCGH

Validation Method:

MLPA, FISH

Platform: Agilent 244K
Software: CGH Analytic Software v3.4
Algorithm: ADM-2
Geographical Ancestry: -

16p11.2

Description:

Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada

Diagnosis:

Intellectual disability and/or mulitple congenital anomalies

Beunders G , et al. (2013)
Cohort Size: 49684

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 212848

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP, aCGH, & solid phase hybridization

Validation Method:

None

Platform: Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
Software: -
Algorithm: -
Geographical Ancestry: NA

16p11.2

Description:

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

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1838140

Deletion: 76
Duplication: 53

Total CNV: 129
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 803464

Deletion: 0
Duplication: 2

Total CNV: 2
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

16p11.2

Description:

Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.

Diagnosis:

Intellectual disability (ID). Cases with total IQ<70 met definition of ID.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ (Multiplex Amplicon Quantification)

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

16p11.2

Description:

ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

Diagnosis:

ASD

Celestino-Soper PB , et al. (2011)
Cohort Size: 99

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 618367

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 4x180K or 8x60K)

Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -

16p11.2

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 2
Age Max: 264
Average: 93.130434782609

Male: 5
Female: 3
Unknown: 92
CNV Size: 550000

Deletion: 156
Duplication: 111

Total CNV: 267
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs ACGH (SignatureChipoWG; n=9207) or oligoarray (SignatureChipOS; n=23,380)
Software: -
Algorithm: -
Geographical Ancestry: -

16p11.2

Description:

Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 458000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

MAQ (Multiplex Amplicon Quantification)

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland

16p11.2

Description:

Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 169

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ (Multiplex Amplicon Quantification)

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

16p11.2

Description:

Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 1281

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 620000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

MAQ (Multiplex Amplicon Quantification)

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland

16p11.2

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: 20
Female: 40
Unknown: 40
CNV Size: 664446

Deletion: 1
Duplication: 4

Total CNV: 5
Discovery Method:

aCGH and/or exome sequencing

Validation Method:

None

Platform: Agilent 2x1M array (aCGH); Aligent Exome+ (exome seq.)
Software: Cnsolidate (aCGH), CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland

16p11.2

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); 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: -
Female: 100
Unknown: -
CNV Size: 259998

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH (n=45,744 from Signature Genomic Labs)

Validation Method:

N/A

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 600000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Oxford Gene Technology CytoSure ISCA oligoarray
Software: -
Algorithm: -
Geographical Ancestry: Belgium

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1387425

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

16p11.2

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 67
Female: -
Unknown: 33
CNV Size: 555159

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0, Cyto-V2, or CytoScan HD
Software: Affymetrix GeneChip Command Console (version 1.2); Chromosome Analysis Suite version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia
Show all Case Details Show all Cohort Details

kino_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of ASD at 3 years of age. Birth/neonatal history: born at 33 weeks of gestation by emergency C-section; birth weight, 1270 g; demonstrated ambiguous genitalia with small penis, bifid scrotum, undescended testes, and hypospadias at birth (underwent orcheopexy and further genitoplasty at 2 years of age). Biochemical evaluation: elevated levels of morning serum cortisol (not suppressed by dexamethsome), plasma ACTH, and serum TSH; serum concentrations of LH, FSH, dehydroepiandrosterone, dehydroepiandrosterone-sulfate, and free and total testerone within normal range. Dysmorphic features: dolichocephaly, hypertelorism, micropenis, small underdeveloped scrotum. Growth parameters: height, 111 cm (25th-50th %ile); weight, 17.2 kg (10-25th %ile).

Cognitive Profile:

Developmental delay

Kino T , et al. (2012)
Primary Diagnosis: ASD

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29600000
CNV End: 30700000
CNV Size: 1100000
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1B, SLX1A, SULT1A4, SULT1A3, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48, ZNF771, DCTPP1, SEPHS2, ITGAL, ZNF768, ZNF747, ZNF764, ZNF688, ZNF785, ZNF689, PRR14, FBRS

raca_12_CAS_discovery_cases-case1

Clinical Profile:

Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, oral expression, or oral composite (Listening Comprehension score of 100; Oral Expression score of 92; Oral Composite score of 95). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and speech production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report; no impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on antidepressant medication and has reportedly experienced social difficulties.

Cognitive Profile:

Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 108; verbal performance score of 96; composite IQ score of 103 (within typical limits)

Raca G , et al. (2012)
Primary Diagnosis: Childhood apraxia of speech (CAS) and autistic features

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29537669
CNV End: 30099882
CNV Size: 562000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI Build 36.1/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

raca_12_CAS_discovery_cases-case2

Clinical Profile:

Language assessment (using Oral and Written Language Scales): no impairments in listening comprehension, impairments in oral expression and oral composite scores (Listening Comprehension score of 96; Oral Expression score of 71; Oral Composite score of 82). Speech processing assessment (using Syllable Repetition Task/SRT): impairments in speech processing and production. Oral mechanism evaluation: no impairments in oral structure or function. Motor evaluation: history of gross motor impairment by parent report, impairment in oral-nonverbal motor function. Developmental evaluation: reported history within typical limits; case on medication for ADHD and behavioral issues.

Cognitive Profile:

Assessment using Kaufman Brief Intelligence Test, 2nd ed.: nonverbal score of 79; verbal performance score of 90; composite IQ score of 82 (below typical limits).

Raca G , et al. (2012)
Primary Diagnosis: Childhood apraxia of speech (CAS) and ADHD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29581455
CNV End: 30098069
CNV Size: 517000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI Build 36.1/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

davis_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.

Cognitive Profile:

Vineland adaptive behavior scale, 98 (45th %ile).

Davis LK , et al. (2012)
Primary Diagnosis: Autism

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 34325303
CNV End: 34611825
CNV Size: 286522
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: BC023607, BC038761, BC045579

davis_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.

Cognitive Profile:

Vineland adaptive behavior scale, 98 (45th %ile).

Davis LK , et al. (2012)
Primary Diagnosis: Autism

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33001178
CNV End: 33704396
CNV Size: 703218
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: BC038215, BC041879, DQ571479, DQ574674, LOC440366, SLC6A8, TP53TG3, TP53TG3b, Z14218

davis_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.

Cognitive Profile:

Vineland adaptive behavior scale, 98 (45th %ile).

Davis LK , et al. (2012)
Primary Diagnosis: Autism

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31931481
CNV End: 32929733
CNV Size: 998252
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: hg18
Gene Content: BC038215, BC041879, BC042588, DQ571479, DQ574674, HERC2P4, IGH, IGHV, IGHV3-30, IGVH, LOC440366, SLC6A10P, TP53TG3, TP53TG3b, X69637

egger_14_ASD_discovery_cases-case1

Clinical Profile:

Case diagnosed with Asperger syndrome (subsequently confirmed; diagnostic tools N/A). Birth/neonatal history: born after uncomplicated pregnancy; normal birth weight and length (2730 g and 48 cm, respectively, 0 SD). Developmental milestones: normal; social withdrawal tendencies and disproportionate reactions to minor social stress, especially in novel and unstructured situtations, noted during early primary school years. Behavioral/psychiatric evaluation: autistic-like elements such as diminished social reciprocity, paucity of speech, poor pragmatic language, and enhanced sensory perception; marked motivational problems and recurrent mild depressive symptoms and/or ideas of reference necessitated several hospitalizations at age of 24-25 years; Minnesota Multiphasic Personality Inventory 2 Restructed Form (MMPI-2-RF) testing disclosed poor reality testing, marked feelings of distrust, and an anxious disposition with excessive worrying; profile suggested enhanced vulnerability to psychotic experiences. EEG: normal. Brain imaging: MRI and DAT-SPECT normal. Dysmorphic features: none reported. Growth parameters: length of 183 cm, weight of 80 kg. Family history: second son of non-consanguineous parents; healthy older brother; history of recurrent depression in mother, otherwise no family history of intellectual disability, congenital anomalies, or neuropsychiatric disorders.

Cognitive Profile:

High average intelligenece; Kaufman Adolescent and Adult Intelligence Test (KAIT) total IQ score of 112; undisturbed attention, memory, and executive functioning.

Egger JI , et al. (2014)
Primary Diagnosis: Asperger syndrome

Age: 33 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 28461879
CNV End: 29428533
CNV Size: 970000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg19
Gene Content: CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, EIF3C, EIF3CL, NPIPB9, ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, LAT

yin_16_ASD_discovery_cases-case497

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: 29591757
CNV End: 30191895
CNV Size: 600139
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: LOC440354, SLC7A5P1, SPN, QPRT, C16orf54, BC041466, ZG16, KIF22, MAZ, AB209061, AK097472, PRRT2, BC029255, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, AK097527, ALDOA, PPP4C, TBX6, YPEL3, AK097453, GDPD3, MAPK3, BOLA2

yin_16_ASD_discovery_cases-case498

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: 31560514
CNV End: 31656578
CNV Size: 96065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

yin_16_ASD_discovery_cases-case499

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: 33864347
CNV End: 34011271
CNV Size: 146925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: JB158072, LINC00273, JB175072

yin_16_ASD_discovery_cases-case500

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: 33864347
CNV End: 34011271
CNV Size: 146925
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: JB158072, LINC00273, JB175072

yin_16_ASD_discovery_cases-case501

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: 34197339
CNV End: 34503222
CNV Size: 305884
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: -

yu_11_ASD_discovery_cases-patient2

Clinical Profile:

Developmental milestones: global developmental delay. Birth weight: 3400 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 160 cm (>95th %ile); weight, 87.5 kg (>97th %ile); OFC, 56 cm (>97th %ile); BMI, 34.3 (99th %ile, Z-score 2.54).

Cognitive Profile:

Very low IQ.

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 10 yrs. 11 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient5

Clinical Profile:

Diagnosis of ASD. Developmental milestones: motor delay; significant language delay. Birth weight: 4540 g. Neonatal adaption: normal. Hypotonia. Eating behavior: normal. Growth parameters: height, 108 cm (50-75th %ile); weight, 19 kg (70th %ile); OFC, 51 cm (50th %ile); BMI, 16.3 (74th %ile; Z-score 0.65).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 5 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient7

Clinical Profile:

Diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3062 g. Neonatal adaption: feeding difficulty. Mild hypotonia. Eating behavior: picky eater with food aversions. Growth parameters: height, 154.5 cm (90th %ile); weight, 65.2 kg (98th %ile); OFC, 58 cm (91-98th %ile); BMI, 25.8 (97th %ile; Z-score 1.95).

Cognitive Profile:

Borderline IQ

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 11 yrs. 4 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient9

Clinical Profile:

Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1814 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia: none. Eating behavior: picky eater with poor eating habits. Growth parameters: height, 107.3 cm (50-75th %ile); weight, 19 kg (75-90th %ile); OFC, NA; BMI, 16.5 (79th %ile; Z-score 0.81).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 4 yrs. 9 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

bremer_11_ASD_discovery_cases-case5

Clinical Profile:

Syndromic ASD, sporadic case

Cognitive Profile:

IQ>70

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29500284
CNV End: 30240082
CNV Size: 580000
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: NCBI Build 36.1
Gene Content: 30 genes (MAZ, SEZ6L2, TBX6, MAPK3)

bremer_11_ASD_discovery_cases-case6

Clinical Profile:

Non-syndromic ASD, sporadic case

Cognitive Profile:

MR (IQ<70)

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29500284
CNV End: 30240082
CNV Size: 580000
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: NA
Genome Build: NCBI Build 36.1
Gene Content: 30 genes (MAZ, SEZ6L2, TBX6, MAPK3)

crepel_11_ASD_discovery_cases-case1

Clinical Profile:

Formal ASD with deficit in 3 domains, SRS core of 128, severe interference in social everyday interactions, head circumference of 56.6 cm

Cognitive Profile:

Total IQ=97, verbal IQ=95, performance IQ=99; highest level of education was secondary school

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

Age: 18 yrs at evaluation

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29845435
CNV End: 29963725
CNV Size: 118000
Validation Description: Affy 6.0, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: UCSC GRCh37
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13, TMEM219

crepel_11_ASD_discovery_cases-case2

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 600000
Validation Description: Affy 6
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: -
Gene Content: -

golzio_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autism based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 9000
Validation Description: qPCR, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: hg18
Gene Content: KCTD13, exons 3-5

golzio_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autism based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 28660000
CNV End: 29020000
CNV Size: 300000
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: hg18
Gene Content: ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, LAT

golzio_12_ASD_discovery_cases-case2

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case3

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case4

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case5

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case6

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case7

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case8

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

golzio_12_ASD_discovery_cases-case9

Clinical Profile:

Diagnosis of ASD based on meeting ADOS diagnostic criteria.

Cognitive Profile:

NA

Golzio C , et al. (2012)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 118000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: MVP, CDIPT1, SEZ6L2, ASPHD1, KCTD13

kumar_08_ASD_discovery_cases-HI0624

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: 4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal de novo
Family Profile: Multiplex
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

kumar_08_ASD_discovery_cases-HI0646

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal de novo
Family Profile: Multiplex
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

laffin_12_CAS_discovery_cases-case2

Clinical Profile:

Years of apraxia treatment: 1. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairment in oral-nonverbal motor assessment tasks.

Cognitive Profile:

No cognitive impairment

Laffin JJ , et al. (2012)
Primary Diagnosis: CAS

Age: 3-6 yrs.

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29531556
CNV End: 30099861
CNV Size: 568305
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: NCBI Build 36.1/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

mccarthy_09_SCZ_discovery_cases-676

Clinical Profile:

Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history. Weight: 34.50 kg; height: 157.50 cm (CDC Z-score 0.00, Farkas Z-score 0.02); OFC: 52.5 cm (CDC Z-score -0.88, Farkas Z-score -0.94)

Cognitive Profile:

WISC performance IQ, 72

McCarthy SE , et al. (2009)
Primary Diagnosis: Schizophrenia

Age: 10

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29652656
CNV End: 30085308
CNV Size: 432652
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: UCSC hg18
Gene Content: C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

pfundt_16_NDD_discovery_cases-case1

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: De novo 16p11.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29313607
CNV End: 30364417
CNV Size: 1050811
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

sebat_07_ASD_discovery_cases-CG2061

Clinical Profile:

NA

Cognitive Profile:

NA

Sebat J , et al. (2007)
Primary Diagnosis: Asperger's

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29578715
CNV End: 30081289
CNV Size: 502574
Validation Description: 390K ROMA or Agilent 244K aCGH, FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: -
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient10

Clinical Profile:

Diagnosis of severe ASD. Developmental milestones: language and motor delays. Birth weight: 1588 g. Neonatal adaption: poor weight gain, gastro-esophageal refulx, failure to thrive. Hypotonia. Eating behavior: picky eater; eats in large quantities. Growth parameters: height, 107.1 cm (50-75th %ile); weight, 18.4 kg (50-75th %ile); OFC, 50.2 cm (90th %ile); BMI, 16.0 (68th %ile; Z-score 0.48).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 4 yrs. 8 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient11

Clinical Profile:

Diagnosis of PDD-NOS. Developmental milestones: language delay. Birth weight: 3657 g. Neonatal adaption: early failure to thrive. Hypotonia. Eating behavior: normal. Growth parameters: height, 124.4 cm (90th %ile); weight, 34.8 kg (>97th %ile); OFC, NA; BMI, 22.5 (99th %ile; Z-score 2.26).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: PDD-NOS

Age: 6 yrs. 6 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient16

Clinical Profile:

Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 4366 g. Neonatal adaption: colicky. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 169.3 cm (97th %ile); weight, 68.5 kg (97th %ile); OFC, 57.6 cm (98th %ile); BMI, 23.9 (94th %ile; Z-score 1.52).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: PDD-NOS

Age: 12 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient18

Clinical Profile:

Diagnosis of PDD-NOS. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: normal. Mild hypotonia. Eating behavior: good appetite. Growth parameters: height, 149 cm (<90th %ile); weight, 39 kg (75th %ile); OFC, 56.6 cm (98th %ile); BMI, 17.6 (57th %ile; Z-score 0.18).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: PDD-NOS

Age: 10 yrs. 8 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient20

Clinical Profile:

Diagnosis of mild ASD. Developmental milestones: mild language delay. Birth weight: unknown. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 155.8 cm (10-25th %ile); weight, 71.4 kg (90-95th %ile); OFC, NA; BMI, 29.4 (97th %ile; Z-score 1.85).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 14 yrs. 2 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_ASD_discovery_cases-patient22

Clinical Profile:

Diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3941 g. Neonatal adaption: jaundice. Hypotonia. Eating behavior: good appetite. Growth parameters: height, 92 cm (90th %ile); weight, 16.5 kg (>97th %ile); OFC, 55 cm (>97th %ile); BMI, 19.5 (98th %ile; Z-score 2).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: ASD

Age: 2 yrs. 4 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

ahn_13_SCZ_discovery_cases-NSB_ID676

Clinical Profile:

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

Cognitive Profile:

IQ ≤ 70

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29502984
CNV End: 30107306
CNV Size: 604000
Validation Description: Validation based on familial presence of CNV
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

bartnik_12_EP_discovery_cases-case10

Clinical Profile:

Age of onset of epilepsy: 17 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy. Parental phenotype: normal.

Cognitive Profile:

Normal IQ

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29532264
CNV End: 30104842
CNV Size: 573000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: NCBI36/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

chung_11_ASD_discovery_cases-proband

Clinical Profile:

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

Cognitive Profile:

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

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33311629
CNV End: 33539319
CNV Size: 227691
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: NCBI Build36
Gene Content: -

girirajan_11_ASD_discovery_cases-Si3

Clinical Profile:

ADOS score: 10. Vineland composite score: 110.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33315404
CNV Size: 61944
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si4

Clinical Profile:

ADOS score: 6. Vineland composite score: 54.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 34; Verbal IQ, 24; Non-verbal IQ, 39.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33323344
CNV Size: 69884
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

guo_17_ASD_discovery_cases-caseM8302

Clinical Profile:

Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available

Cognitive Profile:

-

Guo H , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32090048
CNV End: 33240087
CNV Size: 1150040
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: hg18
Gene Content: TP53TG3D, TP53TG3E, TP53TG3B, TP53TG3, TP53TG3F, TP53TG3C

itsara_10_ASD_discovery_cases-HI0624

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29554843
CNV End: 30037994
CNV Size: 483151
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

itsara_10_ASD_discovery_cases-HI0899

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 28745016
CNV End: 28950951
CNV Size: 205935
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT

itsara_10_ASD_discovery_cases-HI2466

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29554843
CNV End: 30001681
CNV Size: 446838
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C

itsara_10_ASD_discovery_cases-HI2467

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29563365
CNV End: 30085308
CNV Size: 521943
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

itsara_10_ASD_discovery_cases-HI2997

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29320004
CNV End: 30085308
CNV Size: 765304
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: UCSC Build36
Gene Content: LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC440354, SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

levy_11_ASD_discovery_cases-11090.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29559250
CNV End: 30107502
CNV Size: 548253
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

levy_11_ASD_discovery_cases-11433.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29563679
CNV End: 30107502
CNV Size: 543824
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

levy_11_ASD_discovery_cases-11498.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 34054913
CNV End: 34290686
CNV Size: 235774
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

levy_11_ASD_discovery_cases-11540.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29557094
CNV End: 30107502
CNV Size: 550409
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

levy_11_ASD_discovery_cases-11555.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 28036106
CNV End: 28176443
CNV Size: 140338
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

levy_11_ASD_discovery_cases-11555.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29559250
CNV End: 30111196
CNV Size: 551947
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724

levy_11_ASD_discovery_cases-11680.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29559250
CNV End: 30191661
CNV Size: 632412
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

levy_11_ASD_discovery_cases-12010.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29562159
CNV End: 30116116
CNV Size: 553958
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: hg18
Gene Content: ALDOA, ASPHD1, BOLA2, BOLA2B, C16orf53, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, FAM57B, GDPD3, GIYD1, GIYD2, HIRIP3, INO80E, KCTD13, LOC100271831, LOC440356, LOC606724, MAPK3, MAZ, MVP, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TMEM219, YPEL3

levy_11_ASD_discovery_cases-12100.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29572667
CNV End: 30209382
CNV Size: 636716
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: -

levy_11_ASD_discovery_cases-12435.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29557094
CNV End: 30107502
CNV Size: 550409
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

levy_11_ASD_discovery_cases-12451.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29572667
CNV End: 30111196
CNV Size: 538530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724

levy_11_ASD_discovery_cases-12647.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29557094
CNV End: 30084175
CNV Size: 527082
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

levy_11_ASD_discovery_cases-12736.p1

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29581119
CNV End: 30112681
CNV Size: 531563
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2, BOLA2B

mccarthy_09_SCZ_discovery_cases-2011

Clinical Profile:

Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, family history, no grandiose or manic symptoms, no negative symptoms. Weight: 48.10 kg; height: 152.40 cm (CDC Z-score -1.44, Farkas Z-score -1.44); OFC: 54 cm (CDC Z-score -0.18, Farkas Z-score -0.13)

Cognitive Profile:

WISC performance IQ, 81

McCarthy SE , et al. (2009)
Primary Diagnosis: Schizophrenia

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29657405
CNV End: 30235818
CNV Size: 578413
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: UCSC hg18
Gene Content: C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

pfundt_16_NDD_discovery_cases-case60

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: atypical 16p11.2 deletion

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 28328705
CNV End: 30272932
CNV Size: 1944227
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

pfundt_16_NDD_discovery_cases-case67

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: atypical de novo deletion 16p11.2-p12.2

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 28330315
CNV End: 28607802
CNV Size: 277487
Validation Description: Array SNP (Affymetrix CytoScan HD)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

stobbe_13_ASD_discovery_cases-case36

Clinical Profile:

Narrow nasal bridge, thin lips, retrognathia, pes planus, single transverse palmar crease. Family history: father with schizophrenia, bipolar disorder, and ADHD. Karyotype and Fragile X testing: not performed.

Cognitive Profile:

-

Stobbe G , et al. (2013)
Primary Diagnosis: Schizoid personality disorder

Age: 20 yrs.

Gender: M
Primary Disorder Inheritence: Possibly paternal

Family Profile: Multi-generational
CNV Start: 29564890
CNV End: 30100123
CNV Size: 535000
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

wenger_16_ASD_discovery_cases-case30

Clinical Profile:

Prior clinical diagnosis of genetic syndrome: n/a

Cognitive Profile:

-

Wenger TL , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29647342
CNV End: 30177807
CNV Size: 530466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

ahn_13_SCZ_discovery_cases-NSB_ID2011

Clinical Profile:

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

Cognitive Profile:

IQ ≤ 70

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29782436
CNV End: 30227808
CNV Size: 445000
Validation Description: Validation based on familial presence of CNV
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: hg18
Gene Content: SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1A, SLX1B, SULT1A4, SULT1A3

bassuk_13_ID/EP_discovery_cases-case1

Clinical Profile:

Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected sister (bassuk_13_ID/EP_discovery_cases-case2) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.

Cognitive Profile:

Intellectual disability; Stanford-Binet IQ: 60

Ulrich HD (2013)
Primary Diagnosis: Intellectual disability and epilepsy

Age: N/A

Gender: M
Primary Disorder Inheritence: Maternal

Family Profile: Multi-generational
CNV Start: 29500000
CNV End: 30200000
CNV Size: 700000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

bassuk_13_ID/EP_discovery_cases-case2

Clinical Profile:

Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: affected brother (bassuk_13_ID/EP_discovery_cases-case1) and mother (bassuk_13_ID/EP_discovery_cases-case3) also carry 16p11.2 deletion; reportedly unaffected father (deceased) and maternal grandparents.

Cognitive Profile:

Intellectual disability; Stanford-Binet IQ: 64

Ulrich HD (2013)
Primary Diagnosis: Intellectual disability and epilepsy

Age: N/A

Gender: F
Primary Disorder Inheritence: Maternal

Family Profile: Multi-generational
CNV Start: 29500000
CNV End: 30200000
CNV Size: 700000
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

bassuk_13_ID/EP_discovery_cases-case3

Clinical Profile:

Epilepsy/seizures: presented with seizures in childhood; seizure activity most noticeable during intercurrent illnesses. EEG: rare generalized interictal discharges with occasional multifocal discharges. Behavioral/psychiatric evaluation: no autistic features. Language and communication evaluation: unable to read. Growth parameters: short stature (<3rd %ile), obesity. Family history: two affected children (bassuk_13_ID/EP_discovery_cases-case1 and bassuk_13_ID/EP_discovery_cases-case2), both of whom inherited 16p11.2 deletion; reportedly unaffected parents (mother negative for 16p11.2 deletion, father N/A).

Cognitive Profile:

Intellectual disability; Stanford-Binet IQ: 80

Ulrich HD (2013)
Primary Diagnosis: Intellectual disability and epilepsy

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 29500000
CNV End: 30200000
CNV Size: 700000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multi-generational
Genome Build: hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

davis_09_ASD_discovery_cases-AU008404

Clinical Profile:

Diagnosis: autism. Syndromic autism features: trigonocephaly

Cognitive Profile:

-

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 34223359
CNV End: 34560001
CNV Size: 336642
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: -

egger_14_ASD_discovery_cases-caseA136

Clinical Profile:

Diagnosis: Asperger syndrome. Co-morbidities/additional features: ADHD. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.

Cognitive Profile:

Normal IQ

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

Age: 10 yrs. (born 2004)

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 28660952
CNV End: 28951376
CNV Size: 290425
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: Build36/hg18
Gene Content: ATXN2L, ATP2A1, NFATC2IP, SPNS1, RABEP2, SH2B1, LAT, TUFM, CD19

gai_11_ASD_replication_cases-AU002903

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29554843
CNV End: 30316266
CNV Size: 761424
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: -
Gene Content: SPN, QPRT, C16orf54, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, GIYD2, GIYD1, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC440354, LOC595101, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48

girirajan_11_ASD_discovery_cases-Si16

Clinical Profile:

ADOS score: 10. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 108; Non-verbal IQ, 100.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32173377
CNV End: 32560267
CNV Size: 386890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si21

Clinical Profile:

ADOS score: 10. Vineland composite score: 76.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 77; Non-verbal IQ, 85.

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

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32208242
CNV End: 32560267
CNV Size: 352025
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si24

Clinical Profile:

ADOS score: 10. Vineland composite score: 87.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 82; Verbal IQ, 102; Non-verbal IQ, 74.

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

Age: 14

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33417330
CNV Size: 163870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si30

Clinical Profile:

ADOS score: 8. Vineland composite score: 71.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 113; Non-verbal IQ, 102.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33426969
CNV Size: 173509
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si37

Clinical Profile:

ADOS score: 8. Vineland composite score: 82.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33525158
CNV End: 33677013
CNV Size: 151855
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si55

Clinical Profile:

ADOS score: 8. Vineland composite score: 64.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 86; Non-verbal IQ, 92.

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

Age: 18

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33279393
CNV End: 33345561
CNV Size: 66168
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si65

Clinical Profile:

ADOS score: 7. Vineland composite score: 81.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 96; Non-verbal IQ, 74.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33348724
CNV End: 33442165
CNV Size: 93441
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si68

Clinical Profile:

ADOS score: 6. Vineland composite score: 82.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 90.

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

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32173377
CNV End: 32535900
CNV Size: 362523
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si74

Clinical Profile:

ADOS score: 9. Vineland composite score: 60.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 60; Verbal IQ, 51; Non-verbal IQ, 66.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33426969
CNV Size: 173509
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si78

Clinical Profile:

ADOS score: 6. Vineland composite score: 78.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 77; Non-verbal IQ, 89.

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33298906
CNV End: 33391818
CNV Size: 92912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si80

Clinical Profile:

ADOS score: 6. Vineland composite score: 85.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 87; Non-verbal IQ, 95.

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33333466
CNV End: 33571115
CNV Size: 237649
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si84

Clinical Profile:

ADOS score: 8. Vineland composite score: 77.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29559250
CNV End: 29619540
CNV Size: 60290
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT

girirajan_11_ASD_discovery_cases-Si84

Clinical Profile:

ADOS score: 8. Vineland composite score: 77.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29698145
CNV End: 30104406
CNV Size: 406261
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

girirajan_11_ASD_discovery_cases-Si84

Clinical Profile:

ADOS score: 8. Vineland composite score: 77.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 56; Verbal IQ, 53; Non-verbal IQ, 67.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29546342
CNV End: 30129401
CNV Size: 583059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1B, SLX1A, SULT1A3, SULT1A4

kumar_08_ASD_replication_cases-HI0128

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

kumar_08_ASD_replication_cases-HI2466

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex (sibling of kumar_08_autism_HI2467)
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal mosiac
Family Profile: Multiplex (sibling of kumar_08_autism_HI2467)
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

kumar_08_ASD_replication_cases-HI2467

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex (sibling of kumar_08_autism_HI2466)
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal mosiac
Family Profile: Multiplex (sibling of kumar_08_autism_HI2466)
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

kumar_08_ASD_replication_cases-HI2997

Clinical Profile:

NA

Cognitive Profile:

NA

Kumar RA , et al. (2007)
Primary Diagnosis: ASD

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29600000
CNV End: 30200000
CNV Size: 500000
Validation Description: FISH, microsatellite analysis, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal de novo
Family Profile: Multiplex
Genome Build: NCBI Build 36
Gene Content: QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

leppa_16_ASD_discovery_cases-AU002903

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29647000
CNV End: 30178000
CNV Size: 500000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh37/hg19
Gene Content: ALDOA, ASPHD1, C16orf54 ,C16orf92, CDIPT, DOC2A, FAM57B, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SPN, TAOK2, TBX6, TMEM219, YPEL3, ZG16

leppa_16_ASD_discovery_cases-AU011004

Clinical Profile:

-

Cognitive Profile:

Raven's non-verbal IQ 110

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Extended multiplex
CNV Start: 29647342
CNV End: 30177807
CNV Size: 530000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Extended multiplex
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

leppa_16_ASD_discovery_cases-AU041905

Clinical Profile:

SRS total score 76

Cognitive Profile:

Raven's non-verbal IQ 108

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29647342
CNV End: 30403858
CNV Size: 757000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2, BOLA2B, SLX1A, SLX1B, SULT1A4, SULT1A3, LOC613037, CD2BP2, TBC1D10B, MYLPF, SEPT1, ZNF48

mccarthy_09_SCZ_discovery_cases-MC235

Clinical Profile:

Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, negative symptoms, family history

Cognitive Profile:

Estimated IQ, 80-90

McCarthy SE , et al. (2009)
Primary Diagnosis: Schizophrenia

Age: 21

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29481419
CNV End: 30252311
CNV Size: 770892
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: LOC440354, SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101

mccarthy_09_SCZ_replication_cases-851

Clinical Profile:

Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, negative symptoms, family history

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Schizoaffective Disorder

Age: 13

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29487523
CNV End: 30099396
CNV Size: 611873
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

pfundt_16_NDD_discovery_cases-case123

Clinical Profile:

Disease cohort: neurodevelopmental disorder. Description: 16p11.2-p12.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29337667
CNV End: 30199571
CNV Size: 861904
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

shen_10b_ASD_discovery_cases-caseII:5

Clinical Profile:

Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.

Cognitive Profile:

IQ not tested; significant childhood learning disability

Shen Y , et al. (2011)
Primary Diagnosis: ASD

Age: 41 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29500284
CNV End: 30106101
CNV Size: 605817
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: -
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

soueid_16_DD/ID_discovery_cases-case5

Clinical Profile:

-

Cognitive Profile:

-

Soueid J , et al. (2016)
Primary Diagnosis: Developmental delay/intellectual disability

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 34449594
CNV End: 34755816
CNV Size: 306000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: LOC283914, LOC146481, LOC100130700

tabet_12_ASD_discovery_cases-patient1

Clinical Profile:

Clinical diagnosis of autism. ADI-R evaluation (at 5 yrs. 1 mo): social score, 17; communication score, 14 (non-verbal); repetitive behavior score, 7; onset score, 5; diagnosis of autism. VABS II evaluation (at 5 yrs. 2 mos.): communication, 13; daily living, 20; socialization, 15; maladaptive behaviors, 38. Developmental milestones: early normal development; walked at 15 months; severely delayed speech (1st words at 10 yrs.); expressive language limited to restrictive sentences (equivalent to developmental age of 4 yrs). Other behaviors: hyperactivity, motor stereotypies (flapping), noise intolerance, sleep disturbances. Neurological evaluation: normal. Brain MRI: normal at 5 yrs. Sleep polysomnography showed temporo-occipital & temporo-parietal hypersynchrony with rapid rhythmic waves, but no signficiant epileptic event. Dysmorphic features & malformations: deep-set eyes, thick supra-orbital ridge with thick eyebrows, wide & prominent nasal bridge, receding chin, everted lower lip, extensive acanthosis nigricans. Growth parameters: height, 187 cm (+2.5 SD); weight, 91.5 kg (+4 SD); head circumference, 58.5 cm (+1.5 SD). Family history: monozygotic twin brothers with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.

Cognitive Profile:

WISC-III IQ scores (at 16 yrs.): full-scale IQ, 47; verbal IQ, 50; performance IQ, 50

Tabet AC , et al. (2012)
Primary Diagnosis: Autism

Age: 21 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 28401454
CNV End: 29249055
CNV Size: 847000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: hg18/Build 36
Gene Content: CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, EIF3C, EIF3CL, ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, LAT

tiwari_12_EP_discovery_cases-patient2

Clinical Profile:

Age of onset of seizures: 1 months. EEG: multifocal spike and wave activity (at 2 years of age). Brain imaging: normal MRI/MRS; focal cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, flattened nose and upturned nostrils, 2 hypopigmented spots..

Cognitive Profile:

Developmental delay

Tiwari VN , et al. (2012)
Primary Diagnosis: Epilepsy

Age: 2 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31909325
CNV End: 32504690
CNV Size: 595365
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: HERC2P4, LOC729264, LOC390705

weiss_08_ASD_discovery_cases-AU002903

Clinical Profile:

ADI-R (tested at 13.07 yrs): social total 28, verbal communication total 16, behavior total 6, development total 4; ADOS (tested at 15.46 yrs): module 4, communication total 3, social total 4, play total 1, behavior total 2

Cognitive Profile:

Raven nonverbal IQ 94 (tested at 15 yrs); Vineland score 6 yrs 8 mo (tested at 16.2 yrs); Peabody test est. age >22 yrs (age at test: 15)

Weiss LA , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU002905

Clinical Profile:

ADI-R (tested at 9.84 yrs): social total 27, verbal communication total 17, behavior total 8, development total 3; ADOS (tested at 11.91 yrs): module 3, communication total 6, social total 12, play total 2, behavior total 0

Cognitive Profile:

Raven nonverbal IQ 90 (tested at 11 yrs); Vineland score 9 yrs 5 mo (tested at 12.68 yrs); Peabody test est. age 10 yrs 9 mos (age at test: 11 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU011004

Clinical Profile:

ADI-R (tested at 7.95 yrs): social total 26, verbal communication total 15, behavior total 7, development total 5; ADOS (tested at 11.09 yrs): module 3, communication total 3, social total 8, play total 0, behavior total 3

Cognitive Profile:

Raven nonverbal IQ 110 (tested at 11 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Mulitplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU029803

Clinical Profile:

ADI-R (tested at 4.79 yrs): social total 16, verbal communication total 14, behavior total 3, development total 3

Cognitive Profile:

Raven nonverbal IQ N/A

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Mulitplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU032704

Clinical Profile:

ADI-R (tested at 9.99 yrs): social total 28, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 14.82yrs): module 3, communication total 4, social total 7, play total 0, behavior total 1

Cognitive Profile:

Raven nonverbal IQ 75 (tested at 14 yrs); Peabody test est. age 14 yrs 9 mos (tested at 14 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU032705

Clinical Profile:

ADI-R (tested at 8.36 yrs): social total 28, verbal communication total 23, behavior total 8, development total 5; ADOS (tested at 13.19yrs): module 2, communication total 5, social total 8, play total 1, behavior total 5

Cognitive Profile:

Raven nonverbal IQ 50 (tested at 13 yrs); Peabody test est. age 7 yrs 2 mos (tested at 13 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU032706

Clinical Profile:

ADI-R (tested at 6.86 yrs): social total 27, verbal communication total 18, behavior total 4, development total 5; ADOS (tested at 11.68 yrs): module 3, communication total 3, social total 7, play total 0, behavior total 0

Cognitive Profile:

Raven nonverbal IQ 107 (tested at 11 yrs); Peabody test est. age 14 yrs 9 mos (tested at 11 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU032707

Clinical Profile:

ADI-R (tested at 10.55 yrs): social total 26, verbal communication total 24, behavior total 8, development total 5; ADOS (tested at 10.55 yrs): module 3, communication total 6, social total 13, play total 1, behavior total 1

Cognitive Profile:

Raven nonverbal IQ 107 (tested at 10 yrs); Pebaody test est. age 9 yrs 3 mos (tested at 10 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU041905

Clinical Profile:

ADI-R (tested at 5.92 yrs): social total 15, verbal communication total 15, behavior total 6, development total 5; ADOS (tested at 7.96 yrs): module 3, communication total 5, social total 10, play total 1, behavior total 4

Cognitive Profile:

Raven nonverbal IQ 108 (tested at 7 yrs); Peabody test est. age 5 yrs 6 mos (tested at 7 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Mulitplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient1

Clinical Profile:

No diagnosis of ASD. Developmental milestones: mild language delay; motor delay. Birth weight: 2490. Neonatal adaption: transient tachypnea of newborn, failure to thrive, poor weight gain. Hypotonia. Eating behavior: poor feeding skills. Growth parameters: height, 81.5 cm (10-25th %ile); weight, 10.15 kg (<5th %ile); OFC, 50 cm (90-95th %ile); BMI, 15.28 (14th %ile; Z-score -1.08).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 1 yr 10 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient3

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 3370 g. Neonatal adaption: respiratory distress. Mild hypotonia. Eating behavior: avid appetite. Growth parameters: height, 151.6 cm (75-90th %ile); weight, 76.6 kg (>97th %ile); OFC, 54.5 cm (90th %ile); BMI, 33.3 (99th %ile; Z-score 2.5).

Cognitive Profile:

Severe mental retardation (IQ 52)

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 9 yrs. 10 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient4

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3277 g. Neonatal adaption: failure to thrive, weight decline. Hypotonia. Eating behavior: food aversion. Growth parameters: height, 105.4 cm (54th %ile); weight, 18.1 kg (50th %ile); OFC, 54 cm (98th %ile); BMI, 16.3 (75th %ile; Z-score 0.67).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 4 yrs. 11 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient6

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language delay, mild motor delay. Birth weight: 3192 g. Neonatal adaption: failure to thrive. Hypotonia. Eating behavior: unknown. Growth parameters: height, 168.4 cm (10-25th %ile); weight, 139.2 kg (>98th %ile); OFC, 60 cm (98th %ile); BMI, 49.09 (>99th %ile; Z-score 3.13).

Cognitive Profile:

Mental retardation (IQ 69)

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 17 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient8

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: unknown. Neonatal adaption: failure to thrive, gastro-esphageal reflux. Mild hypotonia. Eating behavior: food obsession, ravenous eating. Growth parameters: height, 87.6 cm (5-10th %ile); weight, 11.09 (3-5th %ile); OFC, 47.5 cm (10-25th %ile); BMI, 15.5 (5th %ile; Z-score -1.61).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 2 yrs. 9 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

fedorenko_15_CAS_discovery_cases-case1

Clinical Profile:

SFARIbase ID 3062.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 200; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 3; syllable repetition test (SRT) task 2 syllables raw score, 12; SRT task 3 syllables raw score, 4; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 6th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 40th %ile; Bruininks-Oseretsky Test (BOT), 14th %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case2

Clinical Profile:

SFARIbase ID 3199.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 150; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 88%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 12; SRT task 4 syllables raw score, 8. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 77th %ile; Test for Reception of Grammar (TROG), 66th %ile; rapid automatized naming (RAN), 85.3 %ile; Bruininks-Oseretsky Test (BOT), 7th %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 10 yrs. 11 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case3

Clinical Profile:

SFARIbase ID 3092.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 418; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 83%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, N/A; syllable repetition test (SRT) task 2 syllables raw score, N/A; SRT task 3 syllables raw score, N/A; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 37th %ile; Peabody Picture Vocabulary Test (PPVT), 16th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 92nd %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 8 yrs. 9 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case4

Clinical Profile:

SFARIbase ID 3015.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 147; intelligibility rating, 4; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 9; SRT task 3 syllables raw score, 6; SRT task 4 syllables raw score, N/A. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 32nd %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 16th %ile; Bruininks-Oseretsky Test (BOT), 1st %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 6 yrs. 3 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case5

Clinical Profile:

SFARIbase ID 3008.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 292; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 81%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 2; syllable repetition test (SRT) task 2 syllables raw score, 13; SRT task 3 syllables raw score, 5; SRT task 4 syllables raw score, 5. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 16th %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 5 yrs. 4 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case6

Clinical Profile:

SFARIbase ID 3023.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 145; intelligibility rating, 2; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 13; SRT task 4 syllables raw score, 3. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 19th %ile; Peabody Picture Vocabulary Test (PPVT), 45th %ile; Test for Reception of Grammar (TROG), 16th %ile; rapid automatized naming (RAN), 97.8 %ile; Bruininks-Oseretsky Test (BOT), 99th %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 14 yrs. 8 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case7

Clinical Profile:

SFARIbase ID 3036.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 219; intelligibility rating, 4; percent phenomes correct (PPC) conversation, 66%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 7; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 15; SRT task 4 syllables raw score, 9. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, N/A; Peabody Picture Vocabulary Test (PPVT), 58th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 76th %ile; Bruininks-Oseretsky Test (BOT), 27th %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 10 yrs. 10 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case8

Clinical Profile:

SFARIbase ID 3029.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 208; intelligibility rating, 3; percent phenomes correct (PPC) conversation, 85%; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 4; syllable repetition test (SRT) task 2 syllables raw score, 15; SRT task 3 syllables raw score, 11; SRT task 4 syllables raw score, 1. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), N/A; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 48.5 %ile; Bruininks-Oseretsky Test (BOT), 31st %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 8 yrs. 4 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case9

Clinical Profile:

SFARIbase ID 3014.101. Case met the three ASHS-based consensus diagnostic criteria (inconsistent errors, lengthened and disrupted coarticulatory transitions, and inappropriate prosody) for childhood apraxia of speech (CAS). Speech features: number of words in transcription sample, 180; intelligibility rating, 3; percent phenomes correct (PPC) conversation, N/A; comprehensive test of phonological processing (CTOPP) nonword repetition SS, 8; syllable repetition test (SRT) task 2 syllables raw score, 16; SRT task 3 syllables raw score, 18; SRT task 4 syllables raw score, 7. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 27th %ile; Peabody Picture Vocabulary Test (PPVT), 50th %ile; Test for Reception of Grammar (TROG), N/A; rapid automatized naming (RAN), 2nd %ile; Bruininks-Oseretsky Test (BOT), 12th %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Childhood apraxia of speech

Age: 18 yrs. 1 mo.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

girirajan_11_ASD_discovery_cases-Si142

Clinical Profile:

ADOS score: 4. Vineland composite score: 90.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 107; Verbal IQ, 117; Non-verbal IQ, 99.

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32430367
CNV End: 32512149
CNV Size: 81782
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si145

Clinical Profile:

ADOS score: 9. Vineland composite score: 70.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 37; Non-verbal IQ, 68.

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33417330
CNV Size: 163870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si155

Clinical Profile:

ADOS score: 8. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33287288
CNV End: 33417330
CNV Size: 130042
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si162

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33417330
CNV Size: 163870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si162

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 38; Non-verbal IQ, 56.

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32173377
CNV End: 32560267
CNV Size: 386890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si164

Clinical Profile:

ADOS score: 9. Vineland composite score: 59.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 33; Verbal IQ, 22; Non-verbal IQ, 43.

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

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32173377
CNV End: 32560267
CNV Size: 386890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si167

Clinical Profile:

ADOS score: 8. Vineland composite score: 82.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 128; Non-verbal IQ, 118.

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

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33333466
CNV Size: 80006
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si173

Clinical Profile:

ADOS score: 7. Vineland composite score: 75.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 67; Non-verbal IQ, 82.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33417330
CNV Size: 163870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si175

Clinical Profile:

ADOS score: 5. Vineland composite score: 72.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29497757
CNV End: 29619540
CNV Size: 121783
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT

girirajan_11_ASD_discovery_cases-Si175

Clinical Profile:

ADOS score: 5. Vineland composite score: 72.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29698145
CNV End: 30101407
CNV Size: 403262
Validation Description: aCGH (Nimblegen 3x720K or Agilent 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

girirajan_11_ASD_discovery_cases-Si175

Clinical Profile:

ADOS score: 5. Vineland composite score: 72.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 105; Non-verbal IQ, 105.

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29546342
CNV End: 30129401
CNV Size: 583059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1B, SLX1A, SULT1A3, SULT1A4

girirajan_11_ASD_discovery_cases-Si177

Clinical Profile:

ADOS score: 8. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33268617
CNV End: 33417330
CNV Size: 148713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si180

Clinical Profile:

ADOS score: NA. Vineland composite score: 73.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 111; Verbal IQ, 129; Non-verbal IQ, 100.

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

Age: 19

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33315404
CNV Size: 61944
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si183

Clinical Profile:

ADOS score: 7. Vineland composite score: 66.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33314218
CNV Size: 60758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si184

Clinical Profile:

ADOS score: 10. Vineland composite score: 70.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 94; Verbal IQ, 77; Non-verbal IQ, 105.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33302005
CNV End: 33417330
CNV Size: 115325
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si188

Clinical Profile:

ADOS score: 7. Vineland composite score: 91.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 135; Verbal IQ, 134; Non-verbal IQ, 128.

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33398572
CNV Size: 145112
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si196

Clinical Profile:

ADOS score: NA. Vineland composite score: 74.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 118; Verbal IQ, 116; Non-verbal IQ, 117.

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

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32481330
CNV End: 32551192
CNV Size: 69862
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si209

Clinical Profile:

ADOS score: 6. Vineland composite score: 90.

Cognitive Profile:

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

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32364645
CNV End: 32560267
CNV Size: 195622
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si222

Clinical Profile:

ADOS score: 10. Vineland composite score: 45.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 46; Non-verbal IQ, 19.

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

Age: 16

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32173377
CNV End: 32560267
CNV Size: 386890
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si224

Clinical Profile:

ADOS score: 10. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 69; Non-verbal IQ, 88.

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

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32394319
CNV End: 32560267
CNV Size: 165948
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si225

Clinical Profile:

ADOS score: 8. Vineland composite score: 69.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32394023
CNV End: 32560267
CNV Size: 166244
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si225

Clinical Profile:

ADOS score: 8. Vineland composite score: 69.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 42; Verbal IQ, 30; Non-verbal IQ, 49.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33426969
CNV Size: 173509
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si226

Clinical Profile:

ADOS score: 4. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33391818
CNV Size: 138358
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si226

Clinical Profile:

ADOS score: 4. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 34333620
CNV End: 34635771
CNV Size: 302151
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si228

Clinical Profile:

ADOS score: 10. Vineland composite score: 96.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 99; Verbal IQ, 89; Non-verbal IQ, 107.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32394324
CNV End: 32560267
CNV Size: 165943
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si245

Clinical Profile:

ADOS score: 6. Vineland composite score: 72.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29561239
CNV End: 29619540
CNV Size: 58301
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT

girirajan_11_ASD_discovery_cases-Si245

Clinical Profile:

ADOS score: 6. Vineland composite score: 72.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29698145
CNV End: 30100063
CNV Size: 401918
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

girirajan_11_ASD_discovery_cases-Si245

Clinical Profile:

ADOS score: 6. Vineland composite score: 72.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 55; Non-verbal IQ, 67.

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

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 29546342
CNV End: 30129401
CNV Size: 583059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A, BOLA2B, BOLA2, SLX1B, SLX1A, SULT1A3, SULT1A4

girirajan_11_ASD_discovery_cases-Si254

Clinical Profile:

ADOS score: 6. Vineland composite score: 54.

Cognitive Profile:

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

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32388140
CNV End: 32538191
CNV Size: 150051
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si254

Clinical Profile:

ADOS score: 6. Vineland composite score: 54.

Cognitive Profile:

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

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

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33253460
CNV End: 33417330
CNV Size: 163870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si266

Clinical Profile:

ADOS score: 7. Vineland composite score: 55.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 52; Verbal IQ, 37; Non-verbal IQ, 59.

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

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33315404
CNV End: 33678188
CNV Size: 362784
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si273

Clinical Profile:

ADOS score: 7. Vineland composite score: 54.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 35; Verbal IQ, 26; Non-verbal IQ, 39.

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

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 33333466
CNV End: 33387707
CNV Size: 54241
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

girirajan_11_ASD_discovery_cases-Si319

Clinical Profile:

ADOS score: 8. Vineland composite score: 73.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 93; Non-verbal IQ, 92.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32394023
CNV End: 32560267
CNV Size: 166244
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: UCSC Build36/hg18
Gene Content: -

leppa_16_ASD_discovery_cases-AU0154302

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29647342
CNV End: 30177807
CNV Size: 530000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

leppa_16_ASD_discovery_cases-AU0938301

Clinical Profile:

-

Cognitive Profile:

Raven's non-verbal IQ 80, PPVT 74

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29647342
CNV End: 30177807
CNV Size: 530000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3

mccarthy_09_BiP_discovery_cases-2201-0

Clinical Profile:

Delusions, thought disorder, grandiose or manic symptoms

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Bipolar disorder

Age: 21

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29453358
CNV End: 30252311
CNV Size: 798953
Validation Description: Agilent 244A
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: LOC440354, SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101

mccarthy_09_BiP_discovery_cases-6023_9

Clinical Profile:

Grandiose or manic symptoms, family history

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Bipolar disorder

Age: 17

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29559989
CNV End: 30085308
CNV Size: 525319
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

mccarthy_09_BiP_discovery_cases-8026_1

Clinical Profile:

Delusions, thought disorder, hallucinations, disorganized or catatonic behavior, grandiose or manic symptoms, no family history

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Bipolar disorder

Age: 27

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29559989
CNV End: 30085308
CNV Size: 525319
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

mccarthy_09_BiP_discovery_cases-F440_4

Clinical Profile:

Grandiose or manic symptoms, no family history

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Bipolar disorder

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29559989
CNV End: 29926001
CNV Size: 366012
Validation Description: Affy 500K
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A

mccarthy_09_SCZ_replication_cases-1669

Clinical Profile:

Delusions, hallucinations, disorganized or catatonic behavior, negative symptoms

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: Schizophrenia

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29488112
CNV End: 30099396
CNV Size: 611284
Validation Description: Nimble HD2
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: UCSC hg18
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

pfundt_16_nonNDD_discovery_cases-case7

Clinical Profile:

Disease cohort: blindness. Description: 16p11.2-p12.2 microdeletion syndrome

Cognitive Profile:

-

Pfundt R , et al. (2016)
Primary Diagnosis: Non-NDD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29323670
CNV End: 30364417
CNV Size: 1040748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: Not reported (likely GRCh37/hg19)
Gene Content: -

schaefer_10_ASD_discovery_cases-case14

Clinical Profile:

Simple (non-syndromic) autism. No dysmorphisms.

Cognitive Profile:

-

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

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

shen_10_ASD_discovery_cases-ASD-09-065

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 28732295
CNV End: 28952277
CNV Size: 220000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT

shen_10_ASD_discovery_cases-ASD-09-066

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29560500
CNV End: 30106852
CNV Size: 546000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

shen_10_ASD_discovery_cases-ASD-09-067

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29560550
CNV End: 30106852
CNV Size: 546000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

shen_10_ASD_discovery_cases-ASD-09-068

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29560500
CNV End: 30106101
CNV Size: 546000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

shen_10_ASD_discovery_cases-ASD-09-069

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29560500
CNV End: 30106101
CNV Size: 546000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A

shen_10_ASD_discovery_cases-ASD-09-070

Clinical Profile:

NA

Cognitive Profile:

NA

Shen Y , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29560500
CNV End: 30240082
CNV Size: 679000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: UCSC Genome Browser hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831, CORO1A, LOC606724, BOLA2B, BOLA2, SLX1B, SLX1A, SLX1B-SULT1A4, SLX1A-SULT1A3, SULT1A3, SULT1A4, LOC388242, LOC613038, LOC613037, LOC595101, LOC440354

shen_10b_ASD_discovery_cases-caseIII:1

Clinical Profile:

Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).

Cognitive Profile:

Mental retardation. WISC IQ score of 46.

Shen Y , et al. (2011)
Primary Diagnosis: ASD

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Simplex (ASD), Multiplex (language delay)
CNV Start: 29500284
CNV End: 30106101
CNV Size: 605817
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Simplex (ASD), Multiplex (language delay)
Genome Build: -
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, C16orf53, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

tropeano_16_ASD_discovery_cases-MAAS25

Clinical Profile:

Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R.

Cognitive Profile:

-

Tropeano M , et al. (2016)
Primary Diagnosis: ASD

Age: 20-29 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29673954
CNV End: 30198600
CNV Size: 524646
Validation Description: MLPA or aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh37/hg19
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

weiss_08_ASD_discovery_cases-AU0154302

Clinical Profile:

ADI-R (testeed at 14.73 yrs): social total 28, non-verbal communication total 12, behavior total 4, development total 5; ADOS (tested at 14.73 yrs): module 1, communication total 4, social total 9, play total 2, behavior total 4

Cognitive Profile:

Raven nonverbal IQ 70 (tested at 14 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU0154303

Clinical Profile:

ADI-R (tested at 12.85 yrs): social total 30, non-verbal communication total 14, behavior total 4, development total 5; ADOS (tested at 12.92 yrs): module 1, communication total 5, social total 12, play total 4, behavior total 0

Cognitive Profile:

Raven nonverbal IQ N/A

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

weiss_08_ASD_discovery_cases-AU0938301

Clinical Profile:

ADI-R (tested at 9.32 yrs): social total 18, verbal communication total 12, behavior total 6, development total 5; ADOS (tested at 9.32 yrs): module 3, communication total 3, social total 7, play total 1, behavior total 3

Cognitive Profile:

Raven nonverbal IQ 80 (tested at 9 yrs); Peabody test est. age 6 yrs 5 mos (tested at 9 yrs)

Weiss LA , et al. (2008)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Mulitplex
CNV Start: 29500000
CNV End: 30100000
CNV Size: 593000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Mulitplex
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

xu_16_ASD/DD/ID_discovery_cases-case10

Clinical Profile:

Primary diagnosis of developmental delay based on DQ scores.

Cognitive Profile:

-

Xu Q , et al. (2016)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29425200
CNV End: 30085308
CNV Size: 660000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: hg19
Gene Content: BOLA2-SMG1P6, BOLA2, BOLA2B, SLX1A, SLX1B, SULT1A3, SULT1A4, SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA

yu_11_nonASD_discovery_cases-patient12

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3175 g. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 148 cm (<3rd %ile); weight, 46.9 kg (25th %ile); OFC, 54.5 cm (90th %ile); BMI, 21.4 (64th %ile; Z-score 0.37.

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 14 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient13

Clinical Profile:

No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: 2722 g. Neonatal adaption: jaundice, seizures. Hypotonia: unknown. Eating behavior: normal. Growth parameters: height, 176 cm (50th %ile); weight, 86 kg (89th %ile); OFC, 57 cm (>97th %ile); BMI, 27.9 (90th %ile; Z-score 1.28).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 19 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient14

Clinical Profile:

No diagnosis of ASD. Developmental milestones: normal. Birth weight: 2296 g. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 96.7 cm (75th %ile); weight, 14.6 kg (50th %ile); OFC, 50.25 cm (75-90th %ile); BMI, 15.6 (56th %ile; Z-score 0.15).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Other

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient15

Clinical Profile:

No diagnosis of ASD. Developmental milestones: normal. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: none. Eating behavior: normal. Growth parameters: height, 153.3 cm (10-25th %ile); weight, 59.9 kg (50-75th %ile); OFC, NA; BMI, 25.5 (90th %ile; Z-score 1.31).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Other

Age: 15 yrs. 11 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient17

Clinical Profile:

Diagnosis of ASD: unknown. Developmental milestones: language & motor delay. Birth weight: 2778 g. Neonatal adaption: normal. Hypotonia. Eating behavior: unknown. Growth parameters: height, 126 cm (95th %ile); weight, 44.8 kg (>95th %ile); OFC, NA; BMI, 28.2 (>99th %ile; Z-score 2.99).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 6 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient19

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language & motor delay. Birth weight: 4196 g. Neonatal adaption: gastro-esophageal reflux, poor feeding. Hypotonia. Eating behavior: feeding difficulty. Growth parameters: height, 85 cm (10-25th %ile); weight, 11 kg (25th %ile); OFC, 52.25 cm (99th %ile); BMI, 15.2 (18th %ile; Z-score -0.9).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 2 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient21

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2155 g. Neonatal adaption: poor feeding. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 146 cm (>95th %ile); weight, 71 kg (>95th %ile); OFC, NA; BMI, 33.3 (96th %ile; Z-score 1.77).

Cognitive Profile:

Mental retardation (IQ 40)

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 21 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient23

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 3005 g. Neonatal adaption: normal. Hypotonia: none. Eating behavior: picky eater. Growth parameters: height, 106.7 cm (50-75th %ile); weight, 18.6 kg (75th %ile); OFC, NA; BMI, 16.3 (75th %ile; Z-score 0.67).

Cognitive Profile:

Mental retardation

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 4 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient24

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language delay. Birth weight: 2155 g. Neonatal adaption: unknown. Hypotonia. Eating behavior: unknown. Growth parameters: height, 105.5 cm (25-50th %ile); weight, 16.8 kg (20-50th %ile); OFC, NA; BMI, 15.1 (48th %ile; Z-score -0.05).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 5 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient25

Clinical Profile:

No diagnosis of ASD. Developmental milestones: motor delay. Birth weight: unknown. Neonatal adaption: poor feeding. Hypotonia. Eating behavior: unknown. Growth parameters: height, 138.1 cm (75th %ile); weight, 33.8 kg (75th %ile); OFC, 54.5 cm (90th %ile); BMI, 18 (72th %ile; Z-score 0.57).

Cognitive Profile:

Learning difficulty

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient26

Clinical Profile:

No diagnosis of ASD. Developmental milestones: language and motor delays. Birth weight: 2722 g. Neonatal adaption: excessive crying. Hypotonia: none. Eating behavior: unknown. Growth parameters: height, 129 cm (12th %ile); weight, 35 kg (77th %ile); OFC, 53 cm (50th %ile); BMI, 21 (94th %ile; Z-score 1.52).

Cognitive Profile:

Mental retardation (IQ 68)

Yu Y , et al. (2011)
Primary Diagnosis: Developmental delay

Age: 9 yrs. 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient27

Clinical Profile:

Diagnosis of ASD: unknown. Developmental milestones:. Unknown. Birth weight: unknown. Neonatal adaption: unknown. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 150.5 cm (10-25th %ile); weight, 54.2 kg (77th %ile); OFC, NA; BMI, 23.9 (89th %ile; Z-score 1.25).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Other

Age: 13 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

yu_11_nonASD_discovery_cases-patient28

Clinical Profile:

No diagnosis of ASD. Developmental milestones: unknown. Birth weight: 4082 g. Neonatal adaption: normal. Hypotonia: unknown. Eating behavior: unknown. Growth parameters: height, 88.2 cm (50-75th %ile); weight, 14 kg (77th %ile); OFC, 47.8 cm (90-97th %ile); BMI, 18 (89th %ile; Z-score 1.24).

Cognitive Profile:

-

Yu Y , et al. (2011)
Primary Diagnosis: Other

Age: 2 yrs. 4 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29500000
CNV End: 30100000
CNV Size: 600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: -
Gene Content: SLC7A5P1, SPN, QPRT, C16orf54, ZG16, MAZ, PRRT2, C16orf53, MVP, CDIPT, LOC440356, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, LOC100271831

fedorenko_15_CAS_discovery_cases-case10

Clinical Profile:

SFARIbase ID 3001.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, 1st %ile; Peabody Picture Vocabulary Test (PPVT), 6th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), N/A.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Speech delay

Age: 9 yrs. 11 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

fedorenko_15_CAS_discovery_cases-case11

Clinical Profile:

SFARIbase ID 3024.101. Limited verbal output for this inidividual precluded speech diagnosis. Neuropsychological test results: Kaufmann Brief Intelligence Test (KBIT) matrices, <0.1 %ile; Peabody Picture Vocabulary Test (PPVT), 0.5th %ile; Test for Reception of Grammar (TROG), 1st %ile; rapid automatized naming (RAN), N/A; Bruininks-Oseretsky Test (BOT), 1st %ile.

Cognitive Profile:

IQ ≥ 80

Fedorenko E , et al. (2015)
Primary Diagnosis: Speech delay

Age: 16 yrs. 3 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 29557497
CNV End: 30107356
CNV Size: 600000
Validation Description: CNV validation not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A

mccarthy_09_ASD_discovery_cases-CG20261

Clinical Profile:

Height: 157.48 cm (CDC Z-score -0.95, Farkas Z-score -0.76); OFC: 51.5 cm (CDC Z-score 0.84, Farkas Z-score -0.18)

Cognitive Profile:

NA

McCarthy SE , et al. (2009)
Primary Diagnosis: ASD

Age: 5

Gender: F
Primary Dis