2q24.1CNV Type: Deletion-Duplication
Largest CNV size: 140742 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Intellectual disability and hemizygous GPD2 mutation.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.
Deletion
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-Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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-Duplication
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
4519147
1
0
1
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
121360
1
0
1
barge-schaapveld_13_ID/PDD_discovery_cases
First of two children born to healthy, non-consanguineous parents of normal cognition
1
Intellectual disability (ID) and pervasive developmental disorder (PDD)
25 yrs.
Female
298000
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
113761
1
1
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
22454
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
6518
16
0
16
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
667426
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
3303000
2
0
2
levy_18_ASD/DD/ID_discovery_cases
Three unrelated individuals with de novo 2q24.1 deletions encompassing the NR4A2 gene
3
All three cases presented with developmental delay/intellectual disability; two cases met DSM-5 criteria for a diagnosis of ASD.
Range, 8-17 years
66.67% Male
174000
3
0
3
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
155988560
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
120000
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
53123
1
0
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
49298
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
140742
34
1
35
wang_20_ID_discovery_cases
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
95
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Range, 1 yr. 1 mo.-16 yrs.
68.0% Male
2920001
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1089791
0
1
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
203721
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
13094
12
0
12
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
59961
1
0
1
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)
49298
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.
61646
21
1
22
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
barge-schaapveld_13_ID/PDD_discovery_cases
European
aCGH
Agilent 2_105K (AMADID 019015)
Agilent Scan Control verA.8.1.3; Feature Extraction V9.5.3.1; DNA Analytics V4.0.76
FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
qPCR
levy_18_ASD/DD/ID_discovery_cases
1 African, 2 N/A
Array SNP, solid phase hybridization
Illumina OmniExpress
CNVPartition
Illumina GenomeStudio
FISH
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
wang_20_ID_discovery_cases
Han Chinese
WGS
Illumina HiSeq 2000
Short Oligonucleotide Analysis Package (SOAP) v.2.21
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case159
13.33 yrs.
M
ADHD, developmental delay, intellectual disability, and epilepsy
Intellectual disability, ADHD, speech delay, involuntary movements, abnormal behaviour, self-injurious behaviour, aggressive behavior. History of two episodes of epilepsy (25th may 2019 & 10th june 2019). At 6 months of age, patient suffered in pneumonia. Facial appearance: normal. Growth parameters: height 1.44 m, weight 33 kg, head circumference 50 cm. Family history: born to non-consanguineous parents.
Intellectual disability
154077277
158596423
4519147
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB278
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
154175179
154296538
121360
GRCh38
Deletion
Yes
barge-schaapveld_13_ID/PDD_discovery_cases-case1
25 yrs.
F
ID and PDD
Diagnosis of pervasive developmental disorder made by child psychiatrist at 6 years of age. Birth/neonatal history: born at term after uneventful pregnancy. Developmental milestones: development initially considered to be within normal limits, despite slow speech development. Other features: case showed no GPD activity; normal levels of glycerol and glycerol-3-phosphate in plasma. Dysmorphic features: long face, horizontal eyebrows, broad nasal ridge and tip, well-developed philtrum ridges, thick vermillion of lips, high narrow palate, long fingers and toes. Growth parameters: height of 178.5 cm (+1.25 SD), weight of 74 kg, and head circumference of 56.0 cm (+0.5 SD) at 25 years of age. Family history: first of two children; parents were healthy, non-consanguineous and of normal cognition; healthy younger sister; parents had six total pregnancies, with four resulting in stillbirth, miscarriage, or premature death. Other genetic features: case carries maternally-inherited missense variant in GPD2 gene that abolished enzymatic activity.
Intellectual disability; evaluation at 18 years of age using WISC-R showed total IQ of 48 (VIQ 48; PIQ 52).
156304771
156603228
298458
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case5267_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
155193615
155246737
53123
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8529_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
155418475
155532236
113762
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14184.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
154403313
154425767
22455
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11093.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11265.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11521.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11629.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11892.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12130.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12729.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12749.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13017.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158115100
158121618
6519
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13129.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13258.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13440.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13530.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158115100
158121618
6519
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13672.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
158117823
158121620
3798
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14456.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
158117823
158121618
3796
GRCh38
Deletion
Yes
laffin_12_CAS_discovery_cases-case5
7-9 yrs.
NA
CAS
Years of apraxia treatment: 5. Familial status: positive (one or more nuclear family members with a verbal trait disorder including speech disorder, language disorder, reading disorder, cognitive disability, or learning disability). Language impairment: impairments in language onset, comprehension, and expression. Motor impairment: impairments in gross motor and oral-nonveral motor assessment tasks. Heterozygous missense variant (c.1789A>C; p.N597H) in FOXP2 gene.
No cognitive impairment
158080059
158747485
667427
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU1778303
N/A
N/A
ASD
Non-verbal
Extremely low IQ
155895409
157074224
1178816
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU3566301
N/A
N/A
ASD
Language impairment, seizures
Low IQ, reported mild ID
154507239
157810705
3303467
GRCh38
Deletion
Yes
levy_18_ASD/DD/ID_discovery_cases-case1
17 yrs.
M
ASD and intellectual disability
Case met DSM-5 criteria for a diagnosis of ASD as evaluated by ADOS-2. Birth/neonatal history: born at term of normal pregnancy with normal growth parameters; uneventful neonatal period. Developmental milestones: walking at 15 months; langauge delay (first words at 18-24 months and sentences at 3 years). Language and communication evaluation: deficits in communication skills. Motor/musculoskeletal evaluation: mild pectus excavatum, clinodactyly of the fifth fingers. Behavioral/psychiatric evaluation: deficits in social interactions, anxiety, and attention difficulties. Auditory evaluation: normal at 5 years. Dysmorphic features: none. Growth parameters: weight of 53 kg (-1.5 SD), height of 177.5 cm (+0.5 SD), and head circumference of 55.5 cm (-1 SD). Family history: first child of healthy non-consanguineous parents.
Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R) revealed full-scale IQ od 64 at 5 years 4 months; learning difficulties; Kaufman Assessment Battery for Children II (K-ABC II) at 11 years 3 months revealed mild-moderate intellectual disability; communication, social, and adaptive developmental delay noted using Vineland Adaptive Behavior Scales.
156238336
156360180
121845
GRCh38
Deletion
No
levy_18_ASD/DD/ID_discovery_cases-case2
9 yrs.
F
Developmental delay/intellectual disability
Birth/neonatal history: born at term following normal pregnancy; birth weight of 2840 g (9th %ile), length of 47 cm (6th %ile), and head circumference of 34 cm (37th %ile); uneventful neonatal period. Developmental milestones: walking at 14 months; language delay (single words at 12 months and first sentences at 4 years). Language and communication evaluation: receptive language disability. Behavioral/psychiatric evaluation: restlessness noted from 3 years of age; ADOS-R evaluation did not support diagnosis of autism according to DSM-5 criteria. Dysmorphic features: none. Growth parameters: weight of 16.5 kg (-0.5 SD), height of 111 cm (+1 SD), and head circumference of 51 cm (+0.5 SD). Family history: fourth child of healthy non-consanguineous parents of African origin.
Psycho-educational Profile 3 (PEP-3) at 6 years 3 months showed global developmental delay; evaluation by PEP-3 at 8 years 2 months showed improved development for each subtest and persisting difficulties in expressive language subset; intellectual disability.
156284769
156360180
75412
GRCh38
Deletion
No
levy_18_ASD/DD/ID_discovery_cases-case3
8 yrs.
M
ASD and intellectual disability
Case met DSM-5 criteria for a diagnosis of ASD as evaluated by ADI-R and ADOS-2. Birth/neonatal history: born at term following a pregnancy complicated by gestational diabetes; birth weight at 90th %ile, height and head circumference in normal range; uneventful neonatal period. Developmental milestones: normal motor milestones, walking at 16 months; poor interaction with other children reported at 18 months; language delay (first sentences at 60 months). Behavioral/psychiatric evaluation: behavioral disorders with sleep disturbance, stereotypies, and low frustration tolerance at 6 years; deficits in social interaction and atypical sensory behaviors; aggressive behavior. Dysmorphic features: none. Growth parameters: weight of 21.1 kg (+0.5 SD), height of 116 cm (0 SD), and head circumference of 52 cm (0 SD). Family history: first child of healthy non-consanguineous parents.
Learning difficulties; intellectual disability
156284768
156459236
174469
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0225-003
NA
M
ASD
NA
NA
155167431
155306540
139110
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam944Proband10738
N/A
M
ASD
Additional clinical profile info N/A
ID
157908518
158029007
120490
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5267_3
NA
M
Autism
No language delay, no epilepsy, no dysmorphic features
Average IQ
155193615
155246737
53123
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case47838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
159396741
159407313
10573
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case58472L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
159396741
159407313
10573
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60921
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
155768915
155818212
49298
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
156821378
156962120
140743
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
158119084
158124177
5094
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11197.p1
10.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11262.p1
6.2
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 89
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11265.p1
14.3
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 98; verbal IQ, 120
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
158410421
158546830
136410
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11404.p1
7.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 82
154363623
154388749
25127
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
158119084
158124177
5094
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
158855385
158866994
11610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11521.p1
17.1
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 101; verbal IQ, 128
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11572.p1
9.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 83; verbal IQ, 93
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
158869757
158881686
11930
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11720.p1
8
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 82; verbal IQ, 51
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11892.p1
6.9
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11975.p1
6.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 59; verbal IQ, 75
158855385
158869978
14594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
154319787
154340849
21063
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
158866994
158881451
14458
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12211.p1
6.2
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
158101489
158103686
2198
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12469.p1
10.7
M
Aspergers
NA
Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12588.p1
9.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12640.p1
4.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 118; verbal IQ, 99
155032888
155076716
43829
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
154368523
154430169
61647
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12729.p1
17
F
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 80; verbal IQ, 70
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12794.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13159.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
158119084
158122731
3648
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
158101489
158103686
2198
GRCh38
Deletion
No
wang_20_ID_discovery_cases-case1
4 yrs. 3 mos.
F
Intellectual disability
Abnormal finger, congenital heart defect
Intellectual disability
154623488
157543488
2920001
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
156000368
157090158
1089791
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-controlB686396_1007853864
N/A
N/A
Control
No previous psychiatric history
158179809
158324524
144716
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
N/A
N/A
Control
No previous psychiatric history
158402791
158452277
49487
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
N/A
N/A
Control
No previous psychiatric history
154909390
155113111
203722
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11132.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11469.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11501.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11892.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158115100
158121618
6519
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12695.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
154395990
154409084
13095
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13017.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13021.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13258.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13885.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13926.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14328.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121618
3796
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14412.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
158117823
158121620
3798
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C26602
Control
158957101
159017061
59961
Unknown
Deletion
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11132.s1
10.7
M
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11262.s1
4.8
M
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11265.s1
0
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
158855385
158875296
19912
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11441.s1
4.3
M
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11456.s1
11.3
M
Control (matched sibling)
NA
NA
156230501
156265893
35393
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
158119084
158124177
5094
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11501.s1
13.4
M
Control (matched sibling)
NA
NA
158119084
158124177
5094
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11572.s1
14.3
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11892.s1
9.1
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12588.s1
5.4
M
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
158855385
158869978
14594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
154368523
154430169
61647
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12749.s1
4.3
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13018.s1
7.9
M
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13021.s1
7.3
F
Control (matched sibling)
NA
NA
158119084
158122731
3648
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case159
Unknown
ACVR1,ATP5F1AP2,ERMN,ACVR1C,GALNT13,CCDC148,UPP2,CDK7P1,GPD2,CCDC148-AS1,CBX3P6,FAM133DP,HNRNPDLP2,HEBP2P1,MTA3P1,NR4A2,KCNJ3,RPL7AP22,RPLP0P7,PTP4A1P1,RNA5SP107,MTND5P30,MTND2P20,MTND4P28,UPP2-IT1,LINC01876,LINC01958,MTND6P9,RNU6-546P,RN7SKP281,RNU6-1001P,RNU6-436P,MTCYBP9,RNU6-932P,RN7SL393P,MTCO1P45,PKP4,CYTIP,GALNT5
annunziata_21_ASD_discovery_cases-caseIB278
qPCR, FISH
Unknown
GALNT13,PHBP4
barge-schaapveld_13_ID/PDD_discovery_cases-case1
FISH
De novo
Simplex
Likely segregated
NR4A2,GPD2
engchuan_15_ASD_discovery_cases-case5267_3
Unknown
engchuan_15_ASD_discovery_cases-case8529_201
Unknown
girirajan_13a_ASD_discovery_cases-14184.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
GALNT13
krumm_15_ASD_discovery_cases-case11093.p1
Illumina 1M
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case11265.p1
Illumina 1M
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case11521.p1
Illumina 1M
Maternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case11629.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case11892.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
UPP2
krumm_15_ASD_discovery_cases-case12130.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case12729.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case12749.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case13017.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
UPP2
krumm_15_ASD_discovery_cases-case13129.p1
1M-Duov3
Maternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case13210.p1
1M-Duov3
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case13258.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
UPP2
krumm_15_ASD_discovery_cases-case13440.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case13530.p1
1M-Duov3
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case13672.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
UPP2
krumm_15_ASD_discovery_cases-case14456.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
UPP2
laffin_12_CAS_discovery_cases-case5
Unknown
Multiplex
Unknown
UPP2-IT1,HNRNPDLP2,RN7SL393P,UPP2,CCDC148-AS1,PKP4,PKP4-AS1,CCDC148
leppa_16_ASD_discovery_cases-AU1778303
De novo
Unknown
Possibly segregated
RPLP0P7,NR4A2,LINC01958,GPD2,LINC01876
leppa_16_ASD_discovery_cases-AU3566301
qPCR
De novo
Unknown
Possibly segregated
RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,NR4A2,LINC01958,ERMN,KCNJ3,GPD2,CYTIP,ACVR1C,ACVR1,LINC01876,GALNT5
levy_18_ASD/DD/ID_discovery_cases-case1
De novo
Simplex
Segregated
NR4A2,LINC01876
levy_18_ASD/DD/ID_discovery_cases-case2
De novo
Simplex
Segregated
NR4A2
levy_18_ASD/DD/ID_discovery_cases-case3
FISH
De novo
Simplex
Segregated
NR4A2,GPD2
marshall_08_ASD_discovery_cases-SK0225-003
qPCR, qmPCR
Unknown
NA
NA
MTCO1P45,MTND2P20,ATP5F1AP2
nava_13_ASD_discovery_cases-Fam944Proband10738
Paternal
Simplex
Unknown
RNU6-436P,RNU6-932P,UPP2
pinto_10_ASD_discovery_cases-case5267_3
Agilent1M
paternal
Simplex
NA
prasad_12_ASD_discovery_cases-case47838
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case58472L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60921
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11057.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11093.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11154.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11262.p1
Both parents
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11265.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11390.p1
Unknown
Simplex (quad-proband matched)
Segregated
HNRNPDLP2,RN7SL393P,PKP4,CCDC148
sanders_11_ASD_discovery_cases-11404.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GALNT13
sanders_11_ASD_discovery_cases-11441.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11479.p1
Paternal
Simplex (quad-proband matched)
Not segregated
OR7E28P,DAPL1
sanders_11_ASD_discovery_cases-11521.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11572.p1
Both parents
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11612.p1
Paternal
Simplex (trio)
NA
UPP2
sanders_11_ASD_discovery_cases-11710.p1
Paternal
Simplex (trio)
NA
OR7E90P
sanders_11_ASD_discovery_cases-11720.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-11975.p1
Paternal
Simplex (trio)
NA
OR7E28P,DAPL1
sanders_11_ASD_discovery_cases-12006.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GALNT13
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
OR7E90P
sanders_11_ASD_discovery_cases-12211.p1
Unknown
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
UPP2
sanders_11_ASD_discovery_cases-12469.p1
Both parents
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12588.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12640.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GALNT13
sanders_11_ASD_discovery_cases-12729.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12749.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-12794.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-13021.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-13060.p1
Paternal
Simplex (trio)
NA
UPP2
sanders_11_ASD_discovery_cases-13159.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UPP2
sanders_11_ASD_discovery_cases-13296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UPP2
wang_20_ID_discovery_cases-case1
Unknown
Unknown
Unknown
CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,NR4A2,LINC01958,ERMN,KCNJ3,GPD2,CYTIP,ACVR1C,LINC01876,GALNT5
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0305-004
RT-qPCR or WGS
De novo
RPLP0P7,NR4A2,LINC01958,GPD2,LINC01876
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB686396_1007853864
Unknown
CCDC148-AS1,CCDC148
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
Unknown
HNRNPDLP2,RN7SL393P,CCDC148
engchuan_15_ASD_discovery_controls-controlHABC_900985_900985
Unknown
CBX3P6,RNU6-1001P
krumm_15_ASD_discovery_controls-control11132.s1
Illumina 1M
Paternal
UPP2
krumm_15_ASD_discovery_controls-control11469.s1
Illumina 1M
Maternal
UPP2
krumm_15_ASD_discovery_controls-control11501.s1
Illumina 1M
Maternal
UPP2
krumm_15_ASD_discovery_controls-control11892.s1
Illumina 1MDuo
Paternal
UPP2
krumm_15_ASD_discovery_controls-control12695.s1
Illumina 1MDuo
Maternal
GALNT13
krumm_15_ASD_discovery_controls-control13017.s1
1M-Duov3
Maternal
UPP2
krumm_15_ASD_discovery_controls-control13021.s1
Illumina 1MDuo
Paternal
UPP2
krumm_15_ASD_discovery_controls-control13258.s1
1M-Duov3
Maternal
UPP2
krumm_15_ASD_discovery_controls-control13885.s1
Omni2.5-4v1
Maternal
UPP2
krumm_15_ASD_discovery_controls-control13926.s1
Omni2.5-4v1
Paternal
UPP2
krumm_15_ASD_discovery_controls-control14328.s1
Omni2.5-4v1
Maternal
UPP2
krumm_15_ASD_discovery_controls-control14412.s1
Omni2.5-4v1
Paternal
UPP2
nord_11_ASD_discovery_controls-04C26602
CCDC148
sanders_11_ASD_discovery_controls-11069.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11132.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11262.s1
Both parents
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11265.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11289.s1
Maternal
Simplex (quad)
NA
OR7E28P,OR7E90P,DAPL1
sanders_11_ASD_discovery_controls-11441.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11456.s1
Paternal
Simplex (quad)
NA
LINC01876
sanders_11_ASD_discovery_controls-11469.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11501.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11521.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11572.s1
Both parents
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-11892.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-12006.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-12588.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
OR7E28P,DAPL1
sanders_11_ASD_discovery_controls-12695.s1
Maternal
Simplex (quad)
NA
GALNT13
sanders_11_ASD_discovery_controls-12749.s1
Maternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-12817.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-12975.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-13018.s1
Paternal
Simplex (quad)
NA
UPP2
sanders_11_ASD_discovery_controls-13021.s1
Paternal
Simplex (quad)
NA
UPP2
No Animal Model Data Available