Xq12CNV Type: Deletion-Duplication
Largest CNV size: 162179 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
35125
1
0
1
celestino-soper_11_ASD_discovery_cases
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.
99
ASD
87.88% Male
21207
1
0
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
290000
0
1
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
320116
1
10
11
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
169297
2
0
2
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
541379
1
5
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
45914
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
37786
1
0
1
mignonravix_14_ASD/DD/ID_discovery_cases
Male patients presenting with intellectual disability and a family history suggesting X-linked inheritance or maternal skewed X-chromosome inactivation who were selected from a series of patients from the Centre of Reference for Developmental Abnormalities.
54
Cases presented with intellectual disability.
NA
100% Male
4021
1
0
1
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
162179
0
4
4
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
164109
0
1
1
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from 47 families on whom optical genome mapping (OGM) was performed using ultra-high molecular weight DNA
51
All individuals in this cohort presented with mild to profound syndromic and non-syndromic intellectual disability
20785
0
2
2
shen_10_ASD_discovery_cases
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).
848
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)
24000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
778210
0
17
17
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
45914
0
3
3
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
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
169573
1
7
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent SurePrint G3)
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
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
PCR, qPCR
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
mignonravix_14_ASD/DD/ID_discovery_cases
France
aCGH
X- chromosome-specific microarray (Roche Nimblegen)
NA
NA
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
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
USA/Finland
Optical genome mapping
Saphyr (Bionano Genomics)
Bionano Solve v.3.7.
Solid phase hybridization (Illumina Infinium CytoSNP-850K v1.2 BeadChip)
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
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_cases-caseSSC02602
N/A
M
ASD
Case from SSC_phase1 cohort
68189493
68224618
35126
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11411
NA
M
ASD
NA
NA
68192811
68214018
21208
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300766
N/A
M
Developmental delay/intellectual disability
66595648
66885721
290074
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20130_6005001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3040_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67420571
67517869
97299
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3304_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4372_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66486237
66806353
320117
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4394_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67378424
67517869
139446
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4525_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66108580
66173816
65237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5397_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5537_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
66550828
66713007
162180
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6180_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8550_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67428374
67517869
89496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8552_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
67428374
67517869
89496
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case38
4 yrs. 6 mos.
M
Developmental delay
Speech delay, clinodactyly, hypertelorism
Cognitive delay
67638661
67807958
169298
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case53
6 yrs.
F
Developmental delay
Speech delay, microcephaly, cleft palate, facial dysmorphisms.
Developmental delay
68102849
68246623
143775
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001789
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66548368
66732217
183850
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001822
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66548368
66707636
159269
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001832
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
68274851
68352331
77481
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002578
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66548368
66706421
158054
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004554
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
67585642
68127021
541380
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004866
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
66518184
66805174
286991
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12501.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
65488801
65534715
45915
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13063.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
66599483
66616020
16538
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0683
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
68196777
68234562
37786
GRCh38
Deletion
Yes
mignonravix_14_ASD/DD/ID_discovery_cases-case2
3 yrs.
M
Developmental delay, intellectual disability, and stereotypy
Birth/neonatal history: unremarkable neonatal period. Developmental milestones: global developmental delay with inability to walk and absent speech at 3 years. Motor and musculoskeletal evaluation: spasticity, manual stereotypies. Epilepsy/seizures: febrile seizures. Brain imaging: cerebellar vermis hypoplasia with mildly dilated ventricles. Dysmorphic features: prominent metopic suture, deep-set eyes, thin upper lip vermillion, abnormal external ears, high frontal hairline, bilateral single palmar crease. Family history: both parents were mentally disabled (paternal DNA was not available for testing), and family history showed that the maternal grandmother had two half-brothers with intellectual disability.
Intellectual disability
68191395
68195415
4021
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
66940515
67054547
114033
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
67428374
67517869
89496
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
67428374
67517869
89496
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13063.p1
7.8
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 62; verbal IQ, 30
66550828
66713007
162180
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
66548168
66712276
164109
GRCh38
Duplication
No
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN44-3
M
Intellectual disability
Brain imaging: hypoplasia of the corpus callosum, mild cortical atrophy. Dysmorphic features: prominent supraorbital ridges, deep set eyes, short philtrum, prominent chin. Family history: similarly affected brother who also has the OPHN1 duplication (their mother was heterozygous for the duplication, and her unaffected daughter did not carry the duplication); these individuals were part of a previously reported family with nine affected males over three generations.
Mild-to-moderate intellectual disability
68203479
68224263
20785
GRCh38
Duplication
Yes
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN44-4
M
Intellectual disability
Brain imaging: hypoplasia of the corpus callosum, mild cortical atrophy. Dysmorphic features: prominent supraorbital ridges, deep set eyes, short philtrum, prominent chin. Family history: similarly affected brother who also has the OPHN1 duplication (their mother was heterozygous for the duplication, and her unaffected daughter did not carry the duplication); these individuals were part of a previously reported family with nine affected males over three generations.
Mild-to-moderate intellectual disability
68203479
68224263
20785
GRCh38
Duplication
Yes
shen_10_ASD_discovery_cases-ASD-09-079
NA
M
ASD
NA
NA
66592875
66617038
24164
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
N/A
N/A
Control
No previous psychiatric history
66563112
66713007
149896
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
N/A
N/A
Control
No previous psychiatric history
67428374
67517869
89496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
N/A
N/A
Control
No previous psychiatric history
67420571
67517869
97299
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB354907_1007854351
N/A
N/A
Control
No previous psychiatric history
67428374
67517869
89496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB466866_1007854753
N/A
N/A
Control
No previous psychiatric history
67624868
68403078
778211
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB525251_1007853680
N/A
N/A
Control
No previous psychiatric history
66563112
66713007
149896
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB911292_1007845352
N/A
N/A
Control
No previous psychiatric history
67432862
67517869
85008
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB921364_1007844472
N/A
N/A
Control
No previous psychiatric history
67428374
67517869
89496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
N/A
N/A
Control
No previous psychiatric history
66563112
66706246
143135
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB983847_1007853665
N/A
N/A
Control
No previous psychiatric history
67428374
67526122
97749
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
N/A
N/A
Control
No previous psychiatric history
66108580
66173816
65237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
N/A
N/A
Control
No previous psychiatric history
67436434
67517869
81436
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
N/A
N/A
Control
No previous psychiatric history
67428374
67517869
89496
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900472_900472
N/A
N/A
Control
No previous psychiatric history
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
N/A
N/A
Control
No previous psychiatric history
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901080_901080
N/A
N/A
Control
No previous psychiatric history
67416564
67517869
101306
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901145_901145
N/A
N/A
Control
No previous psychiatric history
67420571
67517869
97299
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12501.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
65488801
65534715
45915
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12853.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66255034
66266672
11639
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13063.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
66599483
66616020
16538
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
67420571
67517869
97299
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11518.s1
12.2
F
Control (matched sibling)
NA
NA
67420571
67517869
97299
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
66940515
67054547
114033
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
66847797
66854265
6469
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
67428374
67514558
86185
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
67428374
67517869
89496
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
67456553
67517869
61317
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
66536673
66706246
169574
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC02602
PCR or SNP data validation
Maternal
OPHN1
celestino-soper_11_ASD_discovery_cases-11411
aCGH (Agilent SurePrint G3)
Inherited
Simplex
NA
OPHN1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300766
Unknown
RNU6-394P,EDA2R
engchuan_15_ASD_discovery_cases-case20130_6005001
Unknown
engchuan_15_ASD_discovery_cases-case3040_7
Unknown
engchuan_15_ASD_discovery_cases-case3304_3
Unknown
engchuan_15_ASD_discovery_cases-case4372_1
Unknown
PKMP2,RNU6-394P,EDA2R
engchuan_15_ASD_discovery_cases-case4394_1
Unknown
engchuan_15_ASD_discovery_cases-case4525_1
Unknown
HEPH
engchuan_15_ASD_discovery_cases-case5397_3
Unknown
engchuan_15_ASD_discovery_cases-case5537_3
Unknown
RNU6-394P,EDA2R
engchuan_15_ASD_discovery_cases-case6180_4
Unknown
engchuan_15_ASD_discovery_cases-case8550_201
Unknown
engchuan_15_ASD_discovery_cases-case8552_203
Unknown
iourov_12_ASD/ID/EP_discovery_cases-case38
PCR or qPCR
Unknown
Unknown
Unknown
BMI1P1,AR
iourov_12_ASD/ID/EP_discovery_cases-case53
FISH
Unknown
Unknown
Unknown
AKIRIN1P2,OPHN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001789
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU6-394P,EDA2R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001822
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-394P,EDA2R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001832
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OPHN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002578
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-394P,EDA2R
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004554
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
BMI1P1,RNU6-1225P,AR,OPHN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004866
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-394P,EDA2R
krumm_15_ASD_discovery_cases-case12501.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
LAS1L,ZC3H12B
krumm_15_ASD_discovery_cases-case13063.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
EDA2R
kushima_22_SCZ_discovery_cases-caseSCZ0683
qRT-PCR
Unknown
OPHN1
mignonravix_14_ASD/DD/ID_discovery_cases-case2
qPCR
Unknown
OPHN1
sanders_11_ASD_discovery_cases-11568.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12536.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13063.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNU6-394P,EDA2R
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
RNU6-394P,EDA2R
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN44-3
Solid phase hybridization (Illumina Infinium CytoSNP-850K v1.2 BeadChip)
Maternal
Multi-generational
OPHN1
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN44-4
Solid phase hybridization (Illumina Infinium CytoSNP-850K v1.2 BeadChip)
Maternal
Multi-generational
OPHN1
shen_10_ASD_discovery_cases-ASD-09-079
Maternal
NA
NA
EDA2R
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
Unknown
RNU6-394P,EDA2R
engchuan_15_ASD_discovery_controls-controlB271690_1007873316
Unknown
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
Unknown
engchuan_15_ASD_discovery_controls-controlB354907_1007854351
Unknown
engchuan_15_ASD_discovery_controls-controlB466866_1007854753
Unknown
BMI1P1,RNU6-1225P,AKIRIN1P2,AR,OPHN1
engchuan_15_ASD_discovery_controls-controlB525251_1007853680
Unknown
RNU6-394P,EDA2R
engchuan_15_ASD_discovery_controls-controlB911292_1007845352
Unknown
engchuan_15_ASD_discovery_controls-controlB921364_1007844472
Unknown
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
Unknown
RNU6-394P,EDA2R
engchuan_15_ASD_discovery_controls-controlB983847_1007853665
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900307_900307
Unknown
HEPH
engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900469_900469
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900472_900472
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900804_900804
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901080_901080
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901145_901145
Unknown
krumm_15_ASD_discovery_controls-control12501.s1
Illumina 1MDuo
Maternal
LAS1L,ZC3H12B
krumm_15_ASD_discovery_controls-control12853.s1
Illumina 1MDuo
Maternal
HEPH
krumm_15_ASD_discovery_controls-control13063.s1
Illumina 1MDuo
Maternal
EDA2R
sanders_11_ASD_discovery_controls-11012.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11568.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11768.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11959.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12817.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12924.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13063.s1
Maternal
Simplex (quad)
NA
RNU6-394P,EDA2R
No Animal Model Data Available