9p24.3-p24.2CNV Type: Deletion-Duplication
Largest CNV size: 3580000 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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3583925
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
4322880
0
2
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
3960356
3
2
5
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
3132256
0
1
1
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
4212214
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
3184206
0
1
1
mohamed_21_DD/ID_discovery_cases
Individuals referred to the National Research Centre (Cairo, Egypt) with chromsome 9p terminal deletions (initially identified by karyotyping) who had additional aCGH evaluation to identify the precise extent of the deletion.
6
All individuals presented with developmental delay and intellectual disability; four individuals also presented with autistic behavior.
Range, 5 mos.-9 yrs.
33.33% Male
2095430
1
0
1
nava_13_ASD_discovery_cases
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 (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
3767000
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
4396558
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
4400000
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
3580000
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
3197863
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
4400000
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
0
0
0
0
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
0
0
0
0
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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)
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mohamed_21_DD/ID_discovery_cases
Egypt
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
NA
Affymetrix ChAS
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
FISH
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
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)
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
qPCR
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
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
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
engchuan_15_ASD_discovery_cases-case13123_1403
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
108998
3692923
3583926
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case16D1990
11 mos. 10 days
M
Developmental delay
Facial dysmorphism
203861
4526740
4322880
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case17D167
3 mos. 26 days
F
Developmental delay
Case presented with 9p24 mosaic duplication (x34).
258491
4199819
3941329
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001001
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
220253
3793376
3573124
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003812
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
204193
3468435
3264243
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004449
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
280255
3905421
3625167
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004499
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1998911
2925112
926202
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005260
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
203993
4164349
3960357
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11435.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
214508
3346764
3132257
GRCh38
Duplication
Yes
leite_22_DD/ID_discovery_cases-case023
1 yr.
F
Developmental delay
Short stature, global developmental delay, multiple stigmas, multiple congenital anomalies
203860
4416073
4212214
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11435.p1
NA
M
ASD
NA
NA
202721
3386926
3184206
GRCh38
Duplication
No
mohamed_21_DD/ID_discovery_cases-case9
9 mos.
F
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: global hypotonia, joint hyperlaxity, kyphosis. Additional medical history: absent clitoris and labia minora. Behavioral/psychiatric evaluation: negative for autistic behavior. Brain imaging: NA. Dysmorphic features: flat occiput, arched/bushy eyebrows, hypertelorism, epicanthus, midface hypoplasia, flat nasal bridge, slightly anteverted nares, long flat philtrum, low-set and posteriorly rotated ears, microstomia, short neck, widely spaced nipples, sparse hair. Growth parameters: weight, height, and head circumference all +2 SD.
Intellectual disability
208453
2303882
2095430
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam15Proband8378
15 yrs. 9 mos.
F
ASD
Developmental milestones: age of walking of 3 years. Lanaguge and communication evaluation: few words. Neurological examination: normal. Epilepsy/seizures: yes (West syndrome). Other features: hyperventilation, dental agenesis, self-injurious behavior and aggression. Dysmorphic features: synophris, anteverted upper lip, shirt philtrum, large mouth, retrognathia. Growth parameters: height +1 SD, weight +5 SD, head circumference within normal range.
ID (moderate-to-severe)
327782
4094321
3766540
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Ataxia, hypoplastic toes (including phalanges), intellectual disability/developmental delay, microcephaly, myopia, triangular face.
Developmental delay/intellectual disability
204193
4600751
4396559
GRCh38
Deletion
N/A
oikonomakis_16_ASD_discovery_cases-case211
2 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypertelorism, high arched palate, prominent ears, stereotypic movements, hypoplasia of corpus callosum
204193
4595541
4391349
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case13123_1403
NA
F
Autism
Verbal, normal birth but developed bilateral congenital diaphragmatic hernia; epilepsy, on anti-convulsants; ashtma, no dysmorphic features
Mild/moderate MR
108998
3692923
3583926
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
185632
3383495
3197864
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case27
F
DD/ID
Upslanting palpebral fissures, high-arched palate, hypertelorism, strabismus, hypotonia, MRI abnormalities (hypoplastic corpus callosum and hypomyelinosis), behavioral problems, small final phalanx of 5th digit
204193
4595541
4391349
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13123_1403
De novo
LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,CBWD1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2
han_22_ASD/DD/ID_discovery_cases-case16D1990
De novo
DMRT1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,GPS2P1,VLDLR-AS1,CARM1P1,RPL12P25,RPS27AP14,EIF1P1,RNA5SP279,RFX3,LINC01231,LINC01230,SLC1A1,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,RN7SL592P,RNU6-1073P,RNU6-1327P,H3P29,PUM3,DMRT2,KANK1
han_22_ASD/DD/ID_discovery_cases-case17D167
De novo
DMRT1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,KCNV2,GLIS3,GPS2P1,VLDLR-AS1,CARM1P1,RPL12P25,RPS27AP14,EIF1P1,RNA5SP279,RFX3,LINC01231,LINC01230,SMARCA2,VLDLR,RNU2-25P,RN7SL592P,RNU6-1073P,RNU6-1327P,H3P29,PUM3,DMRT2,KANK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001001
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,DMRT3,VLDLR,KCNV2,LINC01231,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003812
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,LINC01230,SMARCA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004449
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2,GLIS3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004499
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,VLDLR,KCNV2,VLDLR-AS1,PUM3,CARM1P1,SMARCA2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005260
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2,GLIS3
krumm_15_ASD_discovery_cases-case11435.p1
Illumina 1M
De novo
Simplex
Segregated
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,LINC01230,SMARCA2
leite_22_DD/ID_discovery_cases-case023
De novo
DMRT1,DMRT3,DOCK8,GLIS3-AS1,ATP5PDP2,DOCK8-AS1,KCNV2,GLIS3,GPS2P1,VLDLR-AS1,CARM1P1,RPL12P25,RPS27AP14,EIF1P1,RNA5SP279,RFX3,LINC01231,LINC01230,SMARCA2,VLDLR,RNU6-694P,RNU2-25P,RN7SL592P,RNU6-1073P,RNU6-1327P,H3P29,PUM3,DMRT2,KANK1
levy_11_ASD_discovery_cases-11435.p1
De novo
Simplex
Segregated
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,LINC01230,SMARCA2
mohamed_21_DD/ID_discovery_cases-case9
Unknown
DMRT1,DMRT3,DOCK8,DOCK8-AS1,RPL12P25,RPS27AP14,EIF1P1,RNA5SP279,LINC01230,SMARCA2,RNU2-25P,RN7SL592P,RNU6-1073P,RNU6-1327P,H3P29,DMRT2,KANK1
nava_13_ASD_discovery_cases-Fam15Proband8378
FISH
Unknown (not maternal)
Simplex
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2,GLIS3
nguyen_13_DD/ID/MCA/ASD_discovery_cases-2765
Unknown
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,LINC01230,SMARCA2,GLIS3
oikonomakis_16_ASD_discovery_cases-case211
De novo
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,LINC01230,SMARCA2,GLIS3
pinto_10_ASD_discovery_cases-case13123_1403
qPCR-Denovo
De novo
NA
NA
LINC01388,FOXD4,RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,CBWD1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,LINC01230,SMARCA2
sanders_11_ASD_discovery_cases-11435.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,LINC01230,SMARCA2
tzetis_12_DD/ID_discovery_cases-case27
Unknown
Unknown
RPL12P25,RNU6-1327P,EIF1P1,RNU6-1073P,DMRT2,RPS27AP14,RNA5SP279,RNU2-25P,RN7SL592P,GPS2P1,ATP5PDP2,RNU6-694P,C9orf66,DMRT3,VLDLR,KCNV2,LINC01231,GLIS3-AS1,SLC1A1,DOCK8,KANK1,DMRT1,VLDLR-AS1,PUM3,CARM1P1,RFX3,RFX3-AS1,SPATA6L,LINC01230,SMARCA2,GLIS3
Controls
No Control Data Available
No Animal Model Data Available