9q21.13CNV Type: Deletion-Duplication
Largest CNV size: 379709 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
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.
Duplication
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.
Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Molecular and Phenotypic Characterization of the RORB-Related 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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
2247
0
2
2
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
2570000
1
0
1
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
30973
1
0
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
16001
0
1
1
correia_14_ASD_discovery_cases1
CNV data from Autism Genome Project (AGP) genome-wide CNV scan (2,147 cases of European ancestry) and a follow-up patient sample of 1,496 ASD subjects screened for ANXA1 duplications (74 Portuguese ASD cases, 1123 individuals from AGRE, and 299 non-European cases from AGP CNV scan)
3643
ASD; cases assessed using ADI-R and ADOS
N/A
N/A
7700
0
11
11
correia_14_ASD_discovery_cases2
ASD-affected siblings of probands with ANXA1 duplications
2
ASD; cases assessed using ADI-R and ADOS
N/A
Female
7700
0
2
2
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
379708
0
1
1
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases
Previously unreported individuals with heterozygous deletions affecting the RORB gene (from an initial cohort of 35 individuals with RORB variants, 33 of whom were previously unpublished).
3
All three affected individuals with RORB deletions presented with seizures in addition to a combination of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay (DD), and/or intellectual disability (ID).
Range, 4-10 yrs.
33.33% Male
1294439
3
0
3
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
5107779
3
0
3
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
38997
0
1
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
379709
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
165283
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
36482
4
1
5
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
165987
27
2
29
schaefer_10_ASD_discovery_cases
Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
68
Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
NA
1
0
1
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
531643
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
correia_14_ASD_discovery_controls
4,964 population-based controls from available databases (OHI, POPGEN, SAGE, CHOP) and 410 Portuguese control individuals
5374
Control
N/A
N/A
7700
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
31983
1
0
1
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
3058
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
553081
0
1
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)
36482
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.
13984
25
2
27
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
FISH
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
correia_14_ASD_discovery_cases1
European
Solid phase hybridization, qPCR
Illumina Infinium 1 M, Illumina 550K, Illumina Omni-1 Quad
iPattern, QuantiSNP
qPCR, long-range PCR
correia_14_ASD_discovery_cases2
Hispanic/Latino
Solid phase hybridization, qPCR
Illumina Infinium 1 M, Illumina 550K, Illumina Omni-1 Quad
iPattern, QuantiSNP
qPCR, long-range PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases
aCGH, array SNP, WES
qPCR, Sanger sequencing
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
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
schaefer_10_ASD_discovery_cases
aCGH
Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
GenePix Pro 6.0, SpectralWare CGH analysis software
FISH
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
correia_14_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization, qPCR
Affymetrix 6.0, Illumina Infinium 1M, Illumina 550K
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
alayadhi_16_ASD_discovery_cases-caseAUT4-1
N/A
M
Autism
CARS score of 36.5; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 123.
71292709
71294955
2247
GRCh38
Duplication
Yes
alayadhi_16_ASD_discovery_cases-caseAUT4-4
N/A
M
Autism
CARS score of 33.5; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 154.
71292709
71294955
2247
GRCh38
Duplication
Yes
bartnik_12_EP_discovery_cases-case12
NA
M
Epilepsy and autism
Age of onset of epilepsy: 2 years. Seizure types/epilepsy syndrome: epilepsy with eyelid myoclonia and generalized tonic-clonic seizures (GTCS). Parental phenotype: mother healthy; father has Asperger syndrome
72126484
74692016
2565533
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000419
N/A
M
ASD
Case from REACH cohort
72110534
72141507
30974
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0730-000
NA
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: conceived after 7 rounds of intrauterine insemination using donor sperm, two-vessel umbilical cord noted at birth. Developmental milestones: early motor delay with rolling at 6 months, sitting at 9 months, and independent walking at 18 months. Motor and musculoskeletal evaluation: poor balance and coordination at 3 years. Dysmorphic features: frontal bossing with midface hypoplasia, wide nasal tip and nasal alae, wide mouth with full lips, pectus excavatum deformity, bilateral 5th finger clinodactyly, deep-set toe nails, shallow sacral dimple.
Cognitive evaluation at 6 years 5 months demonstrated that his academic skills were on par with Kindergarten peers with a full scale IQ score of 112 (verbal IQ score of 120) and a listening comprehension standard score of 117 (87th centile).
73165085
73181085
16001
GRCh38
Duplication
No
correia_14_ASD_discovery_cases1-caseFam10_202
N/A
M
ASD
ASD type: autism. Developmental history: no regression. Language: non-verbal. Motor, neurological, and sensory problems: gait abnormalities; repetitive movements (hand flapping, finger movements, body rocking); increased acoustic and tactile sensitivity; tactile defensiveness. Physical exam: slanted posterior fontanel; low set and posterior angulation ears; bifid uvula; high arched palate; finger clinodactyly. Relevant medical history: neonatal hyperbilirubinemia and anemia. Family history: two ASD-affected siblings (negative for ANXA1 duplication); unaffected mother (positive for ANXA1 duplication); father with history of language/learning problems; maternal family history of psychiatric disease and developmental delay.
N/A
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam11_201
N/A
M
ASD
ASD type: autism. Developmental history: developmental and language regression. Language: verbal; no speech delay; extreme-to-moderate low score on Peabody Picture Vocabulary Test (PPVT). Motor, neurological, and sensory problems: N/A. Physical exam: normal. Relevant medical history: N/A. Family history: ASD-affected sibling with ANXA1 duplication (correia_14_ASD_discovery_cases2-caseFam11_202); unaffected parents.
Moderately impaired or delayed
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam1_201
N/A
M
ASD
ASD type: autism. Developmental history: no regression; delayed psychomotor development. Language: phrase speech delay; hyperlexia. Motor, neurological, and sensory problems: none. Physical exam: normal. Relevant medical history: possible mitochondrial disease; sleep problems; rumination. Family history: both parents and female sibling with positive scores on Social Reponsiveness Scale (SRS) and/or Personality Styles and Preferences Questionnaires (PSPQ) (mother and sibling both positive for ANXA1 duplication); unaffected maternal grandfather positive for ANXA1 duplication; maternal grandmother with depression (negative for ANXA1 duplication); maternal cousin with schizophrenia.
Moderate ID
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam2_201
N/A
M
ASD
ASD type: autism. Developmental history: no regression; dealyed psychomotor development with an onset at 2 years. Language: abnormal speech; only isolated words. Motor, neurological, and sensory problems: none. Physical exam: normal. Relevant medical history: none. Family history: unaffected parents (mother positive for ANXA1 duplication); unaffected male sibling (DNA not tested for ANXA1 duplication); unaffected maternal grandfather positive for ANXA1 duplication.
Mild ID
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam3_201
N/A
F
ASD
ASD type: ASD. Developmental history: no regression; no delayed psychomotor development. Language: no speech delay. Motor, neurological, and sensory problems: clumsiness as child. Physical exam: myopia. Relevant medical history: N/A. Family history: father with epilepsy and positive scoreson Social Reponsiveness Scale (SRS) and/or Personality Styles and Preferences Questionnaires (PSPQ) (positive for ANXA1 duplication); mother with history of langauge/learning problems; both unaffected paternal grandparents positive for ANXA1 duplication.
Normal IQ
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam4_201
N/A
M
ASD
ASD type: autism. Developmental history: no regression. Language: severe language impairment; speech and oral motor deficit (i.e. apraxia); uses single words. Motor, neurological, and sensory problems: possible history of seizures. Physical exam: normal. Relevant medical history: N/A. Family history: unaffected parents and female sibling (father positive for ANXA1 duplication; mother and sibling negative).
Moderate ID
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam5_201
N/A
M
ASD
ASD type: autism. Developmental history: no regression. Language: phrase speech delay. Motor, neurological, and sensory problems: none. Physical exam: normal. Relevant medical history: none. Family history: both parents with positive scores on Social Reponsiveness Scale (SRS) and/or Personality Styles and Preferences Questionnaires (PSPQ) (mother positive for ANXA1 duplication); unaffected female sibling (DNA not tested for ANXA1 duplication).
Mild ID
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam6_203
N/A
M
ASD
ASD type: autism. Developmental history: language regression at 15 months. Language: verbal; no speech delay; articulation problems; abnormal prosody and modulation; stuttering; extreme to moderate low score on Peabody Picture Vocabulary Test (PPVT). Motor, neurological, and sensory problems: gait abnormalities; repetitive movements (finger, knocking); sensory abnormalities; abnormal light touch; tactile defensiveness; dyskinesias elicited lateral foot walking. Physical exam: epicanthal folds; left absent tragus; cafe au lait. Relevant medical history: gastroesophageal refulx; chronic diarrhea and constipation; allergies and food sensitivity; sleep problems. Family history: dizygotic male sibling with history of langauge/learning problems (positive for ANXA1 duplication); unaffected male sibling (negative for duplication); mother with depression and anxiety symptoms (positive for duplication); father with unspecified psychiatric disease (negative for duplication); maternal grandmother with depression (DNA not tested for duplication); maternal aunt with psychiatric problems and addiction; paternal grandmother with schizophrenia.
Moderately impaired or delayed
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam7_201
N/A
M
ASD
ASD type: autism. Developmental history: no regression; delayed psychomotor development. Language: no speech delay. Motor, neurological, and sensory problems: none. Physical exam: normal. Relevant medical history: sleep problems. Family history: unaffected parents (mother positive for ANXA1 duplication); two unaffected female siblings (DNA not tested).
Normal IQ
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam8_203
N/A
F
ASD
ASD type: autism. Developmental history: no regression. Language: verbal; phrase speech delay. Motor, neurological, and sensory problems: N/A. Physical exam: N/A. Relevant medical history: N/A. Family history: ASD-affected monozygotic twin sister with ANXA1 duplication (correia_14_ASD_discovery_cases2-caseFam8_204); two unaffected female siblings (no duplication in either); unaffected parents (both parents positive for ANXA1 duplication).
N/A
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases1-caseFam9_202
N/A
M
ASD
ASD type: autism. Developmental history: no regression. Language: verbal; phrase speech delay. Motor, neurological, and sensory problems: N/A. Physical exam: N/A. Relevant medical history: N/A. Family history: unaffected parents (father positive for ANXA1 duplication); unaffected female sibling with ANXA1 duplication; male sibling with history of language/learning problems (positive for ANXA1 duplication).
N/A
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases2-caseFam11_202
N/A
F
ASD
ASD type: autism. Developmental history: regression. Language: non-verbal; phrase speech delay; extreme-to-moderate low score on Peabody Picture Vocabulary Test (PPVT). Motor, neurological, and sensory problems: N/A. Physical exam: normal. Relevant medical history: N/A. Family history: ASD-affected sibling with ANXA1 duplication (correia_14_ASD_discovery_cases1-caseFam11_201); unaffected parents.
Moderately impaired or delayed
73165556
73173282
7727
GRCh38
Duplication
Yes
correia_14_ASD_discovery_cases2-caseFam8_204
N/A
F
ASD
ASD type: autism. Developmental history: no regression. Language: verbal; phrase speech delay. Motor, neurological, and sensory problems: N/A. Physical exam: N/A. Relevant medical history: N/A. Family history: ASD-affected monozygotic twin sister with ANXA1 duplication (correia_14_ASD_discovery_cases1-caseFam8_203); two unaffected female siblings (no duplication in either); unaffected parents (both parents carry duplication).
N/A
73165556
73173282
7727
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1165_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
72182393
72562101
379709
GRCh38
Duplication
No
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case18
10 yrs.
M
ASD, ADHD, developmental delay, intellectual disability, and seizures
Developmental milestones: language delay. Behavioral/psychiatric evaluation: autism spectrum disorder (autistic features, ADHD, sleep disorder. Epilepsy/seizures: absence seizures (onset at 4 years, offset at 9 years). EEG: abnormal EEG (rare temporal spikes on interictal EEG; 3 Hz generalized spike and wave discharges lasting 5-10 seconds on ictal EEG). Brain imaging: unspecified brain MRI abnormalities.
Moderate intellectual disability
74462711
74884947
422237
GRCh38
Deletion
Yes
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case3
8 yrs.
F
ADHD, intellectual disability, and seizures
Developmental milestones: developmental regression. Behavioral/psychiatric evaluation: ADHD, hyperactivity. Epilepsy/seizures: seizures (onset at 5 years; seizure types included myoclonic seizures, myoclonic atonic seizures, and generalized tonic-clonic seizures). EEG: abnormal EEG (spike and waves and polyspike and waves on interictal EEG; spike and waves, polyspike and waves, and <2.5 Hz generalized spike and waves on ictal EEG).
Mild intellectual disability
74209368
75503806
1294439
GRCh38
Deletion
Yes
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case9
4 yrs.
F
Developmental delay, intellectual disability, and seizures
Developmental milestones: speech delay. Motor and musculoskeletal evaluation: mild muscular hypotonia. Epilepsy/seizures: febrile seizures (onset at 15 months, offset at 2 years 11 months; seizures precipitated by fever). Additional medical history: nystagmus, hypermetropia, anisometropia. Dysmorphic features: retrognathia, anteverted nares, frontal bossing, low-set ears.
Mild intellectual disability
74497826
74498135
310
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72023067
72497412
474346
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002760
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74887986
75718195
830210
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004353
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72224348
77332127
5107780
GRCh38
Deletion
Yes
lintas_17_ASD_discovery_cases-case19.3
5 yrs.
F
Autism
Low-functioning ASD, non-verbal
N/A
N/A
38997
GRCh37
Duplication
Yes
pinto_10_ASD_discovery_cases-case1165_3
NA
M
Autism
Non verbal, poor suck at birth, floppy infant, gastrointestinal problems
MR
72182393
72562101
379709
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1326A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU043903; NDAR ID NDAR_INVXE173GEE)
72195498
72360780
165283
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case101464
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77194007
77205369
11363
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case107437
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74107886
74117565
9680
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case137484
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
74611845
74648326
36482
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case147230
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
77192366
77205369
13004
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case81155
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
77194007
77205369
11363
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11039.p1
6.3
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11196.p1
12.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 117; verbal IQ, 106
76790512
76796576
6065
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
76535746
76549730
13985
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
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11381.p1
5.6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 89; verbal IQ, 68
73165798
73173245
7448
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
71504947
71670934
165988
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11689.p1
13.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 87; verbal IQ, 107
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11722.p1
11.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12103.p1
6.6
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 44; verbal IQ, 31
76535746
76545843
10098
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
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
76535746
76549730
13985
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12235.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12552.p1
8.7
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 98
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12574.p1
13
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 111
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12722.p1
11.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 77
73194166
73195477
1312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12879.p1
10.3
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 35; verbal IQ, 33
72573043
72578901
5859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12924.p1
5.5
F
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 117; verbal IQ, 81
73194166
73195477
1312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13033.p1
4.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
73194166
73195477
1312
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13036.p1
11.9
M
Autism
NA
Full-scale IQ, 27; non-verbal IQ, 36; verbal IQ, 19
76535746
76545843
10098
GRCh38
Deletion
No
schaefer_10_ASD_discovery_cases-case7
NA
F
Autism
Simple (non-syndromic) autism. Epilepsy. Positive family history of autism
Mild developmental delay
NA
NA
NA
Unknown
Deletion
Yes
yuan_23_ASD_discovery_cases-qma01967s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
74615351
75146993
531643
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-controlB467732_1007842340
N/A
N/A
Control
No previous psychiatric history
71299453
71331436
31984
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11381.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
73166096
73169154
3059
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
72219477
72772557
553081
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11267.s1
10.3
M
Control (matched sibling)
NA
NA
73188488
73194261
5774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11334.s1
12.7
M
Control (matched sibling)
NA
NA
73188488
73194261
5774
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11381.s1
7.4
M
Control (matched sibling)
NA
NA
73165798
73173245
7448
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11578.s1
10.8
M
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11610.s1
9.4
M
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11766.s1
4.3
F
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12170.s1
5.8
F
Control (matched sibling)
NA
NA
73188488
73194261
5774
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12210.s1
18.8
M
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12247.s1
6.3
F
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12297.s1
11.9
M
Control (matched sibling)
NA
NA
73194166
73195477
1312
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12361.s1
7.3
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
73184450
73195477
11028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12552.s1
4.2
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
73194166
73194261
96
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12879.s1
6.3
M
Control (matched sibling)
NA
NA
72573043
72578901
5859
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
76535746
76549730
13985
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12908.s1
7.6
M
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
73188488
73195477
6990
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
76535746
76545843
10098
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13187.s1
6
M
Control (matched sibling)
NA
NA
73194166
73195477
1312
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT4-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
TRPM3
alayadhi_16_ASD_discovery_cases-caseAUT4-4
qPCR
De novo (CNV not observed in either parent)
Multiplex
TRPM3
bartnik_12_EP_discovery_cases-case12
FISH
De novo
RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,LINC01504,CYP1D1P,ANXA1,RORB-AS1,GDA,TMC1,ALDH1A1,RORB,ZFAND5
brandler_18_ASD_discovery_cases-caseREACH000419
PCR or SNP data validation
Paternal
GDA
chan_22_ASD_discovery_cases-case3-0730-000
Unknown
ANXA1
correia_14_ASD_discovery_cases1-caseFam10_202
qPCR or long-range qPCR
Maternal
Multiplex
Not segregated
ANXA1
correia_14_ASD_discovery_cases1-caseFam11_201
qPCR or long-range qPCR
Paternal
Multiplex
Possibly segregated
ANXA1
correia_14_ASD_discovery_cases1-caseFam1_201
qPCR or long-range qPCR
Maternal
Simplex (for ASD; multigenerational for autistic features a.k.a. positive SRS and/or PSPQ scores)
Incomplete segregation
ANXA1
correia_14_ASD_discovery_cases1-caseFam2_201
qPCR or long-range qPCR
Maternal
Unknown
Unknown
ANXA1
correia_14_ASD_discovery_cases1-caseFam3_201
qPCR or long-range qPCR
Paternal
Simplex (for ASD; multigenerational for autistic features a.k.a. positive SRS and/or PSPQ scores)
Incomplete segregation
ANXA1
correia_14_ASD_discovery_cases1-caseFam4_201
qPCR or long-range qPCR
Paternal
Unknown
Unknown
ANXA1
correia_14_ASD_discovery_cases1-caseFam5_201
qPCR or long-range qPCR
Maternal
Simplex
Unknown
ANXA1
correia_14_ASD_discovery_cases1-caseFam6_203
qPCR or long-range qPCR
Maternal
Multiplex
Possibly segregated
ANXA1
correia_14_ASD_discovery_cases1-caseFam7_201
qPCR or long-range qPCR
Maternal
Unknown
Unknown
ANXA1
correia_14_ASD_discovery_cases1-caseFam8_203
qPCR or long-range qPCR
Both parents
Multiplex (monozygotic twins)
Possibly segregated
ANXA1
correia_14_ASD_discovery_cases1-caseFam9_202
qPCR or long-range qPCR
Paternal
Multiplex
Not segregated
ANXA1
correia_14_ASD_discovery_cases2-caseFam11_202
qPCR or long-range qPCR
Paternal
Multiplex
Possibly segregated
ANXA1
correia_14_ASD_discovery_cases2-caseFam8_204
qPCR or long-range qPCR
Both parents
Multiplex (monozygotic twins)
Possibly segregated
ANXA1
engchuan_15_ASD_discovery_cases-case1165_3
Unknown
RNA5SP285,LINC01504,GDA,TMC1,ZFAND5
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case18
qPCR
Unknown (not maternal)
TRPM6,RORB,RORB-AS1,RNU6-445P,RPSAP75,RN7SKP47
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case3
qPCR
Unknown
OSTF1,NMRK1,C9orf40,CARNMT1,TRPM6,CARNMT1-AS1,RORB,RORB-AS1,RNU6-445P,RNU6-1228P,RPSAP75,RN7SKP47
gokce_samar_24_ASD/ADHD/DD/ID_discovery_cases-case9
Sanger sequencing
De novo
RORB,RORB-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001714
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
BTF3P4,RNA5SP285,C9orf57,LINC01504,GDA,ZFAND5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002760
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
C9orf40,RNU6-1228P,CARNMT1,NMRK1,TRPM6,OSTF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004353
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,ZFAND5,GCNT1
lintas_17_ASD_discovery_cases-case19.3
Validation by visual inspection, RT-PCR, or PCR
De novo
Multiplex
Not segregated (CNV only observed in 1/3 affected siblings)
RORB (intronic)
pinto_10_ASD_discovery_cases-case1165_3
Illumina550;Affy5.0
paternal
NA
NA
RNA5SP285,LINC01504,GDA,TMC1,ZFAND5
poultney_13_ASD_discovery_cases-case00HI1326A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNA5SP285,LINC01504,GDA,ZFAND5
prasad_12_ASD_discovery_cases-case101464
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case107437
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case137484
Unknown
Unknown
Unknown
TMC1
prasad_12_ASD_discovery_cases-case147230
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case81155
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11039.p1
Maternal
Simplex (trio)
NA
GCNT1
sanders_11_ASD_discovery_cases-11196.p1
Paternal
Simplex (quad-proband matched)
Segregated
PRUNE2,PCA3
sanders_11_ASD_discovery_cases-11242.p1
Maternal
Simplex (quad-proband matched)
Segregated
PPIAP87,GCNT1
sanders_11_ASD_discovery_cases-11265.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-11270.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-11381.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ANXA1
sanders_11_ASD_discovery_cases-11567.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-11610.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-11619.p1
Maternal
Simplex (trio)
NA
RPL35AP21
sanders_11_ASD_discovery_cases-11689.p1
Paternal
Simplex (trio)
NA
GCNT1
sanders_11_ASD_discovery_cases-11722.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11834.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-11914.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11947.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12097.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12103.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
GCNT1
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPIAP87,GCNT1
sanders_11_ASD_discovery_cases-12235.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-12351.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-12552.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12574.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
sanders_11_ASD_discovery_cases-12722.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12879.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMC1
sanders_11_ASD_discovery_cases-12924.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13033.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13036.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GCNT1
schaefer_10_ASD_discovery_cases-case7
FISH
Unknown
Multiplex
Unknown
NA
yuan_23_ASD_discovery_cases-qma01967s000
De novo
OSTF1,NMRK1,C9orf40,CARNMT1,TRPM6,CARNMT1-AS1,RORB,RNU6-445P,RPSAP75,RN7SKP47
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
Unknown
TRPM3
krumm_15_ASD_discovery_controls-control11381.s1
Illumina 1M
Paternal
ANXA1
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
RNA5SP285,RPS20P24,RPS27AP15,LINC01504,GDA,TMC1,ZFAND5
sanders_11_ASD_discovery_controls-11267.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11334.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11353.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11381.s1
Paternal
Simplex (quad)
NA
ANXA1
sanders_11_ASD_discovery_controls-11578.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-11610.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-11766.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11855.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-11947.s1
Both parents
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-12170.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12210.s1
Maternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-12247.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-12261.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12275.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12297.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12361.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12497.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12552.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12690.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12879.s1
Paternal
Simplex (quad)
NA
TMC1
sanders_11_ASD_discovery_controls-12894.s1
Maternal
Simplex (quad)
NA
PPIAP87,GCNT1
sanders_11_ASD_discovery_controls-12908.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-13036.s1
Paternal
Simplex (quad)
NA
GCNT1
sanders_11_ASD_discovery_controls-13187.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available