Xp21.2CNV Type: Deletion
Largest CNV size: 111897 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
Exome sequencing identifies novel and known mutations in families with intellectual disability
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
98335
1
0
1
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
Cases with heterozygous monogenic ANKS1B deletions: 4 cases from two families identified at Albert Einstein College of Medicine, 2 unrelated cases from Autism Speaks/MSSNG at the University of Toronto, 1 case identified through GeneMatcher, and 12 cases identified in DECIPHER.
19
Cases presented with a spectrum of neurodevelopmental disorders including ASD, ADHD, developmental delay (DD), and intellectual disability (ID)
Range, 2-35 years
57.89% Male
393850
0
2
2
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
313076
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
1213030
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
721084
2
3
5
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
275
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
362362
0
2
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
138556
0
1
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
15016
0
2
2
pham_14_ASD/DD/EP/ID_discovery_cases
Consecutive patient samples submitted to the Medical Genetics Laboratories at Baylor College of Medicine for CMA analysis from Jun 2009-Feb. 2011. Note: CNVs identified in this report were somatic mosaic in nature.
10362
Indication for CMA provided for 8898 cases; 5138 patients with clinical indication of cognitive impairment (primarily developmental delay, intellectual disability, and autism)
N/A
N/A
35000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
111897
1
0
1
pinto_14_ASD_discovery_cases
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)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
268094
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
109411
1
0
1
qiao_12_ASD/ID_discovery_cases
Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
52
ASD and/or ID (intellectual disability)
NA
NA
129819
0
1
1
rasheed_21_ID_discovery_cases
Three affected siblings born to consanguineous Turkish parents carrying a maternally-inherited Xp21.2 deletion affecting the IL1RAPL1 gene.
3
All three siblings presented with moderate intellectual disability (ID).
NA
66.67% Male
290103
3
0
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
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)
Mean, 9.1 yrs.
86.1% Male
88702
1
0
1
tropeano_13_DD/ASD_discovery_cases
Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
10397
Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
N/A
63.4% Male
484984
0
1
1
tropeano_16_ASD_discovery_cases
ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
90
Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
Adult age (20 yrs.+)
N/A
179084
0
1
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
1040000
0
1
1
yuen_17_ASD_discovery_cases
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
2626
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
N/A
78.71% Male
799999
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
80
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
64184
0
2
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
109411
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
116870
1
0
1
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
carbonell_19_ASD/ADHD/DD/ID_discovery_cases
10 Caucasian, 1 South Asian, 1 Pakistani, 1 Maghreb, 6 not reported
CMA, WES, WGS
Illumina (WES)
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
pham_14_ASD/DD/EP/ID_discovery_cases
N/A
aCGH
BCM V8 OLIGO array
FISH, chromosome analysis
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
qiao_12_ASD/ID_discovery_cases
Canadian
Array SNP
Affymetrix 2.7M
Affymetrix ChAS v.1.1
QMPSF, MLPA
rasheed_21_ID_discovery_cases
Pakistan
Solid phase hybridization
Illumina GenomeStudio
NA
Illumina GenomeStudio cnvPartition
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_cases
70% Caucasian, 15% African, 15% other/mixed ancestry
aCGH
Agilent 60K
Feature Extraction, DNA Analytics
None
tropeano_16_ASD_discovery_cases
United Kingdom
aCGH
Agilent 60K
ADM-2
Agilent Feature Extraction, Agilent Genomic Workbench
MLPA, aCGH
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB260
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
29520815
29619149
98335
GRCh38
Deletion
Yes
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
2 yrs.
F
ASD, developmental delay, and intellectual disability
Case identified in DECIPHER (DECIPHER ID 304771). Developmental milestones: developmental delay, speech delay, motor delay. Motor and musculoskeletal evaluation: motor dyspraxia. Behavioral/psychiatric evaluation: ASD. EEG: focal epileptic anomalies. Brain imaging: T2 hyperintensity in the posterior corona radiata white matter. Growth parameters: head circumference not reported.
30851826
31245676
393851
GRCh38
Triplication
chehbani_22_ASD_discovery_cases-case42
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
31051559
31364634
313076
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300523
N/A
F
Developmental delay/intellectual disability
30144069
31357098
1213030
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14379_4920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30851379
31074333
222955
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5036_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29518008
29629904
111897
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6381_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30593700
30861793
268094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8597_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31375940
32097024
721085
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8634_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30224838
30409474
184637
GRCh38
Duplication
No
husson_20_ASD_discovery_cases-case426
6 yrs.
M
ASD
Diagnosis of ASD
29282983
29283257
275
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001873
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29713271
29740951
27681
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31444405
31806767
362363
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0758
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
29802851
29941406
138556
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case19
15 yrs.
F
Intellectual disability
Intellectual disability
29350305
29365321
15017
GRCh38
Triplication
No
pham_14_ASD/DD/EP/ID_discovery_cases-case54
8 yrs.
M
ASD and developmental delay
Indication for study: developmental delay and PDD-NOS. Level of mosaicism: 51% by CMA; 56% by FISH.
29907009
29942173
35165
GRCh38
Mosaic deletion
Yes
pinto_10_ASD_discovery_cases-case5036_4
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features; triplet with 2 nonASD brothers
Average nonverbal IQ (32%ile)
29518008
29629904
111897
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case6381_3
N/A
M
ASD
Autism, language delay, limited language, early-onset obesity (+4 SD), normal height, macrocephaly (+3 SD), big ears, shield-like chest, no other dysmorphic features, bilateral hypermetropia, epilepsy, normal brain MRI. Family history: mother with epilepsy; father unaffected; 1 healthy brother (no DNA).
Severe ID
30593700
30861793
268094
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case60536L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
29447360
29556770
109411
Unknown
Deletion
No
qiao_12_ASD_discovery_cases-case10-48A
4 yrs. 6 mos.
M
ASD
Nondysmorphic with mild occipital flattening, mild conductive hearing loss, no evidence of seizures, moderate neuromotor delay (delayed gross motor skills including crawling at 14 months, walking at 20 months, difficulty in climbing stairs independently at 3 years), hypotonia, mild calf hypertrophy, severely delayed expressive, receptive and pragmatic language skills, normal growth parameters, normal MRI and repeat CPK measures. Electromyographic and nerve conduction studies deferred while neuromotor progress continues to progress and being monitored conservatively.
Mild intellectual disability
31048482
31178301
129819
Unknown
Duplication
Yes
rasheed_21_ID_discovery_cases-caseFamMRID165-1
NA
F
Intellectual disability
Language and communication evaluation: unclear speech. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
Moderate intellectual disability, impaired analytic ability
29454908
29745010
290103
GRCh38
Deletion
Yes
rasheed_21_ID_discovery_cases-caseFamMRID165-2
NA
M
Intellectual disability
Language and communication evaluation: unclear speech. Growth parameters: macrocephaly, tall stature. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
Moderate intellectual disability, impaired analytic ability
29454908
29745010
290103
GRCh38
Deletion
Yes
rasheed_21_ID_discovery_cases-caseFamMRID165-3
NA
M
Intellectual disability
Language and communication evaluation: unclear speech. Family history: born to consanguineous Pakistani parents; two similarly affected siblings.
Moderate intellectual disability, impaired analytic ability
29454908
29745010
290103
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-12977.p1
8.2
F
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 95; verbal IQ, 107
30021751
30110453
88703
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_cases-case2
5 yrs.
M
Developmental delay
Attention difficulties, delayed speech and language skills, dysmorphic features
29470431
29955415
484985
GRCh38
Duplication
No
tropeano_16_ASD_discovery_cases-MAAS24
40-49 yrs.
F
ASD
Case diagnosed with autism based on ICD-10 research criteria; diagnosis confirmed using ADOS and ADI-R. Number of additional co-morbid mental health conditions (diagnosed in accordance with ICD-10R or DSM-IV) at time of initital assessment: 2.
30691094
30870178
179085
GRCh38
Duplication
Yes
willemsen_12_DD/ID_discovery_cases-case51
F
Multiple congenital anomalies
Growth retardation, congenital heart and kidney defects
30371962
31411962
1040001
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0757-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: anxiety, ADHD, Learning Disorder, Speech/Language Delay - Communication Skill Problem; Intellectual Disability
30800884
31600883
800000
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC10222
N/A
F
Control
Control from SSC cohort
29846874
29846954
81
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
N/A
N/A
Control
No previous psychiatric history
30037476
30101660
64185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900266_900266
N/A
N/A
Control
No previous psychiatric history
31358799
31388951
30153
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
29518008
29634878
116871
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB260
qPCR, FISH
Maternal
MIR4666B,IL1RAPL1
carbonell_19_ASD/ADHD/DD/ID_discovery_cases-caseDEC-10
Paternal
Simplex
TAB3-AS2,FTHL17,TAB3,DMD
chehbani_22_ASD_discovery_cases-case42
Unknown
Simplex
DMD,FTHL17,RNU6-894P
digregorio_17_DD/ID_discovery_cases-DECIPHER_300523
qPCR
De novo
MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,GK,TAB3,DMD
engchuan_15_ASD_discovery_cases-case14379_4920
Unknown
TAB3-AS2,FTHL17,TAB3
engchuan_15_ASD_discovery_cases-case5036_4
Unknown
MIR4666B,IL1RAPL1
engchuan_15_ASD_discovery_cases-case6381_3
Unknown
CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
engchuan_15_ASD_discovery_cases-case8597_201
Unknown
DMD
engchuan_15_ASD_discovery_cases-case8634_201
Unknown
MAGEB3,MAGEB4,PLCE1P1,NR0B1,MAGEB1
husson_20_ASD_discovery_cases-case426
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
IL1RAPL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001873
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IL1RAPL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004248
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DMD
kushima_22_SCZ_discovery_cases-caseSCZ0758
qRT-PCR
Unknown
IL1RAPL1
lee_17_ASD/DD/ID/MCA_discovery_cases-case19
Unknown
IL1RAPL1
pham_14_ASD/DD/EP/ID_discovery_cases-case54
FISH and/or chromosome analysis
Unknown
Unknown
Unknown
IL1RAPL1
pinto_10_ASD_discovery_cases-case5036_4
Agilent1M
maternal
Multiplex (sib with Aspberger)
NA
MIR4666B,IL1RAPL1
pinto_14_ASD_discovery_cases2-case6381_3
qPCR
Maternal (X-linked in a male)
Simplex
Unknown (1 healthy brother, no DNA)
CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
prasad_12_ASD_discovery_cases-case60536L
Unknown
Unknown
Unknown
IL1RAPL1
qiao_12_ASD_discovery_cases-case10-48A
QMPSF, MLPA
Maternal
Simplex
Unknown
DMD
rasheed_21_ID_discovery_cases-caseFamMRID165-1
qPCR
Maternal
Multiplex
Segregated
MIR4666B,IL1RAPL1
rasheed_21_ID_discovery_cases-caseFamMRID165-2
qPCR
Maternal
Multiplex
Segregated
MIR4666B,IL1RAPL1
rasheed_21_ID_discovery_cases-caseFamMRID165-3
qPCR
Maternal
Multiplex
Segregated
MIR4666B,IL1RAPL1
sanders_11_ASD_discovery_cases-12977.p1
Unknown
Simplex (quad-proband matched)
Segregated
tropeano_13_DD/ASD_discovery_cases-case2
Maternal
MIR4666B,IL1RAPL1
tropeano_16_ASD_discovery_cases-MAAS24
MLPA or aCGH
Unknown
Unknown
Unknown
TAB3-AS2,GK-AS1,TAB3-AS1,GK,TAB3
willemsen_12_DD/ID_discovery_cases-case51
Maternal+ Grandparental
CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,CXorf21,GK-AS1,TAB3-AS1,GK,TAB3,DMD
yuen_17_ASD_discovery_cases-case1-0757-003
Affymetrix CytoScan HD
Maternal
Simplex
Unknown
TAB3-AS2,FTHL17,RNU6-894P,TAB3-AS1,TAB3,DMD
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC10222
Not available
Unknown
IL1RAPL1
engchuan_15_ASD_discovery_controls-controlB462693_1007873290
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900266_900266
Unknown
DMD
sanders_11_ASD_discovery_controls-11321.s1
Both parents
Simplex (quad)
NA
MIR4666B,IL1RAPL1
No Animal Model Data Available