21q22.11CNV Type: Deletion-Duplication
Largest CNV size: 444200 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
dingemans_21_DD/ID_discovery_cases
Individual carrying a 21q22.11 deletion of unknown origin affecting the SON gene from an initial cohort of 17 previously unreported individuals with ZTTK syndrome.
1
Case presented with developmental delay (DD) and intellectual disability (ID); this case was also reported to present with autism spectrum disorder or autistic behavior.
7 yrs.
Male
192714
1
0
1
egger_14_ASD_discovery_cases
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).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
310512
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
111359
2
2
4
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
972129
3
3
6
kashevarova_14_ASD/ID_discovery_cases
Two affected siblings and two additional unrelated patients with CNVs at the 3p26.3 locus
4
All four cases present with intellectual disability (ID); one case with an additional diagnosis of atypical autism (diagnostic tools N/A)
Range, 9-15 yrs.
50% Male
164123
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
97430
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
30686
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
755126
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
30073
1
1
2
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
529952
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
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
N/A
N/A
81710
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
29796
7
0
7
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
444200
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
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
179952
4
5
9
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
275335
2
1
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% 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)
30073
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.
43752
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
dingemans_21_DD/ID_discovery_cases
NA
NA
NA
NA
NA
None
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
kashevarova_14_ASD/ID_discovery_cases
N/A
aCGH
Agilent 60K
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
dingemans_21_DD/ID_discovery_cases-case7
7 yrs.
M
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: premature birth. Developmental milestones: motor delay, speech delay. Motor and musculoskeletal evaluation: hypermobility, abnormality of the foot. Behavioral/psychiatric evaluation: autism spectrum disorder or autistic behavior. Brain imaging: abnormality of the ventricles (ventriculomegaly), abnormality of the corpus callosum (hypoplasia of the corpus callosum). Additional medical history: urogenital abnormality (abnormal renal morphology, horseshoe kidney), visual impairment (hypermetropia), abnormality of the immunological system. Dysmorphic features: downslanting palpebral fissures, abnormality of the nose, low-set ears. Growth parameters: short stature (height <3rd %ile), decreased body weight (<3rd %ile).
Moderate intellectual disability
33410829
33603542
192714
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA62
18 yrs. (born 1996)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: gender identity/transgender. 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.
High-normal IQ
31386473
31696984
310512
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4155_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
30362696
30454545
91850
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5349_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32749544
32792521
42978
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6270_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32047358
32095347
47990
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8454_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31820819
31932178
111360
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001212
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32338306
32536076
197771
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002180
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31339386
32311519
972134
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002314
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33465408
33806416
341009
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004007
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
32597585
32718929
121345
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004806
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31152676
31547770
395095
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004990
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
33437186
33767838
330653
GRCh38
Duplication
Yes
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
9 yrs.
M
Intellectual disability
Birth/neonatal history: born at 42 weeks gestation; birth weight of 3300 g (50th %ile), length of 53 cm (90th %ile), and head circumference of 35 cm (50th %ile); Apgar scores of 7. Developmental milestones: displayed physical and psychomotor developmental delays (sitting at 8 months, walking at 1 year 6 months, first words at 2 years, phrases at 5 years). Language and communication evaluation: speech delay; dysarthria. Motor and musculoskeletal evaluation: impaired fine motor skills, hyperkineses, hypermobility of small and large joints, hypotonia, scoliosis. Behavioral/psychiatric evaluation: hyperactivity until 1 year of age; attention deficit hyperactivity disorder. Brain imaging: computer tomography of the brain did not reveal organic lesions. Additional medical history: cardiologic examination revealed additional chord in left ventricle. Dysmorphic features: dolichocephaly, unusual and coarse hair, low posterior hairline, direct high and widely-set eyebrows, upslanting palpebral fissures, covergent strabismus, epicanthus, wide nasal bridge, small nose, low-set protruding ears with malformed helices, macrostomia, micrognathia, short philtrum, high palate, short neck, cryptorchidism, hypospadias. Growth parameters: height of 131 cm (50th %ile), weight of 25 kg (50th %ile), and head circumference of 50 cm (3rd %ile) at age of 9 years. Family history: 3p26.3 microduplication is also present in case's father and paternal grandmother, both of whom are apparently healthy.
IQ of 47
32084899
32249023
164125
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case14133.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
32514813
32612243
97431
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11474.p1
NA
M
ASD
NA
NA
30256343
30287028
30686
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case62
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
32725579
33480704
755126
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case117504L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
34661358
34691430
30073
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60490L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
32679448
32694381
14934
Unknown
Duplication
No
rosenfeld_10_ASD_discovery_cases-case25287
NA
NA
ASD
NA
NA
32151464
32681416
529952
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-279a2
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
30362696
30444405
81710
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11378.p1
9.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
30806956
30836751
29796
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11474.p1
14.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
30257816
30283759
25944
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
32598120
32599568
1449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
32598120
32599568
1449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
32598120
32599568
1449
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12907.p1
13.8
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
33335755
33351857
16103
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
32598120
32599721
1602
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR017-C1-HI2201
NA
ASD
NA
NA
30244711
30688911
444201
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR017-C2-HI2202
NA
ASD
NA
NA
30244711
30688911
444201
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
engchuan_15_ASD_discovery_controls-control110036020832_
N/A
N/A
Control
No previous psychiatric history
30714005
30861013
147009
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036022507_
N/A
N/A
Control
No previous psychiatric history
30362696
30454545
91850
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB264221_1007841409
N/A
N/A
Control
No previous psychiatric history
30218551
30258592
40042
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB304127_0067942644
N/A
N/A
Control
No previous psychiatric history
33653419
33683942
30524
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
N/A
N/A
Control
No previous psychiatric history
32789184
32830972
41789
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
N/A
N/A
Control
No previous psychiatric history
31443644
31493163
49520
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
N/A
N/A
Control
No previous psychiatric history
33653419
33687523
34105
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
N/A
N/A
Control
No previous psychiatric history
30714005
30870455
156451
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
N/A
N/A
Control
No previous psychiatric history
33624712
33804666
179955
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12347.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30480044
30755380
275337
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12597.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
30480044
30561291
81248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13312.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33414887
33436962
22076
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
30806956
30850707
43752
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
31633679
31649707
16029
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
dingemans_21_DD/ID_discovery_cases-case7
Unknown
TMEM50B,DONSON,DNAJC28,RPS5P3,IFNGR2,GART,BTF3P6,MIR6501,SON,CRYZL1
egger_14_ASD_discovery_cases-caseA62
Unknown
Unknown
FBXW11P1,SOD1,SCAF4,TIAM1
engchuan_15_ASD_discovery_cases-case4155_1
Unknown
KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1
engchuan_15_ASD_discovery_cases-case5349_3
Unknown
C21orf62-AS1,PAXBP1
engchuan_15_ASD_discovery_cases-case6270_3
Unknown
LINC00159
engchuan_15_ASD_discovery_cases-case8454_201
Unknown
TPT1P1,HUNK
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001212
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SNORA80A,URB1-AS1,EXOSC3P1,URB1,EVA1C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002180
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
FBXW11P1,SOD1,HMGN1P2,TPT1P1,HUNK-AS1,MIS18A-AS1,MIS18A,MRAP,SCAF4,HUNK,LINC00159,URB1,TIAM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002314
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPS5P3,BTF3P6,MIR6501,TMEM50B,DNAJC28,GART,DONSON,CRYZL1,IFNGR2,ITSN1,SON
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004007
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
OR7E23P,CFAP298,SYNJ1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004806
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TIAM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004990
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS5P3,BTF3P6,MIR6501,TMEM50B,DNAJC28,GART,DONSON,CRYZL1,IFNGR2,ITSN1,SON
kashevarova_14_ASD/ID_discovery_cases-caseK_III-1
Unknown
Simplex
Unknown
LINC00159
krumm_15_ASD_discovery_cases-case14133.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNA5SP490,TCP10L,CFAP298,EVA1C
levy_11_ASD_discovery_cases-11474.p1
Paternal
Simplex
Segregated
RPL8P2,KRTAP24-1
miclea_22_DD/ID_discovery_cases-case62
Unknown
TMEM50B,C21orf62-AS1,C21orf62,PAXBP1,OLIG1,IFNGR2,IL10RB,IFNAR2,IFNAR1,LINC01548,USF1P1,IL10RB-DT,PAXBP1-AS1,LINC00945,LINC01690,SYNJ1,OLIG2
prasad_12_ASD_discovery_cases-case117504L
Unknown
Unknown
Unknown
KCNE2,FAM165B
prasad_12_ASD_discovery_cases-case60490L
Unknown
Unknown
Unknown
URB1,C21orf119
rosenfeld_10_ASD_discovery_cases-case25287
FISH
Unknown
Unknown
Unknown
HUNK,MIS18A,MRAP,URB1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-279a2
Not tested by qPCR
Unknown
Unknown
Unknown
KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1
sanders_11_ASD_discovery_cases-11378.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRTAP8-3P,KRTAP8-1,KRTAP7-1
sanders_11_ASD_discovery_cases-11474.p1
Paternal
Simplex (quad-proband matched)
Segregated
RPL8P2,KRTAP24-1
sanders_11_ASD_discovery_cases-11909.p1
Unknown
Simplex (quad-proband matched)
Segregated
CFAP298
sanders_11_ASD_discovery_cases-12578.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CFAP298
sanders_11_ASD_discovery_cases-12798.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CFAP298
sanders_11_ASD_discovery_cases-12907.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IFNAR1
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CFAP298
szatmari_07_ASD_discovery_cases-NAAR017-C1-HI2201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPL8P2,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP23-1,KRTAP13-6P,KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,KRTAP20-2,KRTAP20-3
szatmari_07_ASD_discovery_cases-NAAR017-C2-HI2202
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPL8P2,KRTAP24-1,KRTAP25-1,KRTAP26-1,KRTAP27-1,KRTAP23-1,KRTAP13-6P,KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1,KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,KRTAP20-2,KRTAP20-3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020832_
Unknown
KRTAP21-3,KRTAP21-4P,KRTAP21-2,KRTAP21-1,KRTAP8-2P,KRTAP8-3P,KRTAP8-1,KRTAP7-1
engchuan_15_ASD_discovery_controls-control110036022507_
Unknown
KRTAP13-2,MIR4327,KRTAP13-1,KRTAP13-3,KRTAP13-4,KRTAP13-5P,KRTAP15-1
engchuan_15_ASD_discovery_controls-controlB264221_1007841409
Unknown
engchuan_15_ASD_discovery_controls-controlB304127_0067942644
Unknown
ITSN1
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
Unknown
C21orf62-AS1,C21orf62
engchuan_15_ASD_discovery_controls-controlB985683_1007875312
Unknown
TIAM1
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
Unknown
ITSN1
engchuan_15_ASD_discovery_controls-controlHABC_900923_900923
Unknown
KRTAP21-3,KRTAP21-4P,KRTAP21-2,KRTAP21-1,KRTAP8-2P,KRTAP8-3P,KRTAP8-1,KRTAP7-1
engchuan_15_ASD_discovery_controls-controlHABC_902773_902773
Unknown
CRYZL1,ITSN1
krumm_15_ASD_discovery_controls-control12347.s1
Illumina 1MDuo
De novo
KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7,KRTAP22-2,KRTAP6-3,KRTAP6-2,KRTAP22-1,KRTAP6-1,KRTAP20-1,KRTAP20-4,KRTAP20-2,KRTAP20-3,KRTAP21-3,KRTAP21-4P,KRTAP21-2,KRTAP21-1
krumm_15_ASD_discovery_controls-control12597.s1
Illumina 1MDuo
Maternal
KRTAP19-1,KRTAP19-2,KRTAP19-3,KRTAP19-4,KRTAP19-5,KRTAP19-9P,KRTAP19-10P,KRTAP19-11P,KRTAP19-6,KRTAP19-7
krumm_15_ASD_discovery_controls-control13312.s1
1M-Duov3
De novo
TMEM50B,IFNGR2
sanders_11_ASD_discovery_controls-11378.s1
Maternal
Simplex (quad)
NA
KRTAP8-3P,KRTAP8-1,KRTAP7-1
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available