3q26.32CNV Type: Deletion-Duplication
Largest CNV size: 225315 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_19_ASD_discovery_cases
Siblings diagnosed with ASD born to unaffected parents with a maternally-inherited 2p11.2 deletion affecting the ELMOD3, CAPG, and SH2D6 genes
2
Cases diagnosed with ASD using ADOS protocols and clinical evaluation according to DSM-IV criteria
N/A
Male
N/A
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
297231
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
78000
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
44467
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
14799
1
0
1
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
39570
0
1
1
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
297229
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
277000
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
450000
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
36386
0
1
1
pons_14_ID_discovery_cases
An 8-year-old girl and her 33-year-old mother, both of whom display similar phenotypes
2
Both cases present with intellectual disability, delayed language development, and dysmorphic features (neither case presents with ASD or autistic features)
Range, 8-33 yrs.
Female
708000
2
0
2
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
47955
1
1
2
riehmer_17_ASD/ID_discovery_cases
Individuals from two unrelated families with 3q26.32 duplications solely affecting the TBL1XR1 gene
4
All four individuals presented with learning disability and speech delay; two individuals presented with intellectual disability (ID), and two were diagnosed with ASD.
Range, 7-39 yrs.
25% Male
521000
0
4
4
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
314800
0
2
2
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
225315
31
6
37
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
52888
1
0
1
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
1974488
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
13559
1
0
1
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.
14849
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)
47955
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.
42047
21
4
25
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_19_ASD_discovery_cases
Sardinia
Solid phase hybridization
Illumina Human1M-Duo BeadChip
PennCNV, QuantiSNP, CNVPartition
GenomeStudio v2010.3
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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)
pons_14_ID_discovery_cases
Caucasian
aCGH
Agilent SurePrint G3
ADM-2
Feature Extraction v10.7.3.1, Genomic Workbench v5.0.14
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
riehmer_17_ASD/ID_discovery_cases
Germany
aCGH, qPCR
Agilent SurePrint G3 Human CGH Microarray Kit with custom-design 4x180K
ADM-2
Feature Extraction v.10.7.3.1, CytoGenomics v.2.9.2.4 (Agilent)
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
bacchelli_19_ASD_discovery_cases-caseAUT003.3
N/A
M
ASD
Case diagnosed with PDD-NOS at age of 7 years according to DSM-IV criteria. Motor and musculoskeletal evaluation: significant global motor clumsiness. Behavioral/psychiatric evaluation: deficit in reciprocal social interaction, restricted and repetitive interests, difficulty in changes in routine of daily life, deficit of eye contact. Family history: similarly affected brother who does not have this CNV.
Leiter-R Intelligence Quotient (IQ) score of 106
N/A
N/A
N/A
GRCh37
Deletion
No
cucinotta_23_ASD_discovery_cases-case137
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
176855553
177152783
297231
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300216
N/A
M
Developmental delay/intellectual disability
179024449
179102935
78487
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1406301
Autism
177403578
177448044
44467
Unknown
Deletion
No
guo_18_ASD/DD/ID_discovery_cases-caseBK-250-03
N/A
M
ASD
Microcephaly
FSIQ 93, NVIQ 93, VIQ 97
179140401
179155200
14800
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400127
N/A
M
ASD
Diagnosis of autism (ADOS=21). Motor and musculoskeletal evaluation: developed ataxia after hitting his head at 11 years old; hypotonia.
Severe intellectual disability
177025488
177065060
39573
GRCh38
Duplication
No
lintas_17_ASD_discovery_cases-case6.2
N/A
M
Asperger syndrome
No additional clinical information available
176855554
177152783
297230
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown153
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
178566518
178843030
276513
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530914
M
Autism and developmental delay
Autism (HP:0000717), global developmental delay (HP:0001263)
176885425
177335424
450000
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5248_3
NA
M
ASD
NA
NA
178401581
178437966
36386
GRCh38
Duplication
Yes
pons_14_ID_discovery_cases-case1
8 yrs.
F
Intellectual disability
Birth/neonatal history: born after normal home delivery at 38 weeks 3 days of gestation; birth weight of 2490 (-2 SD), length of 46 cm (-2.5 SD), and head circumference of 32.5 cm (-2 SD); normal neonatal development. Developmental milestones: delayed language development (able to say fewer then 10 words, incorrectly, at 24 months); motor development within normal range (crawling at 9 months, walking unaided at 12 months). Motor and musculoskeletal evaluation: normal motor skills; clinodactyly of the 5 fingers, partial syndactyly of toes 2 and 3, abnormally large gap between toes 1 and 2, hypotrophy, narrow chest. Behavioral/psychiatric evaluation: normal behavior, sociable, no ASD or autistic features; difficulty in focusing and sustaining attention. Additional medical history: hearing test revealed seromucous otitis. Dysmorphic features: synophrys, thick eyebrows, hypotelorism, short nose with anteverted nostrils, pronounced philtrum, prognathism with pointed chin, dental crowding, low-set ears. Growth parameters: weight of 22 kg (normal), height of 122 cm (+0.5 SD), and head circumference of 49.5 cm (-1.5 SD) at age of 8 years. Family history: first child born to unrelated parents, both of whom worked in the same sheltered environment; mother exhibits similar phenotypes.
Intellectual disability; attended regular school with specific assistance; had speech, psychomotor, oculomotor, and psychological therapies; able to read, write and count
176504013
177211796
707784
GRCh38
Deletion
Yes
pons_14_ID_discovery_cases-case2
33 yrs.
F
Intellectual disability
Birth/neonatal history: born at term; birth weight of 2700 g (-1SD), length of 47.5 cm (-2 SD), and head circumference of 35 cm (average); uneventful neonatal period. Developmental milestones: delayed language development; difficulties with concentration and fine motor skills; normal gross motor development (sitting at 6 months, walking at 16 months); other developmental milestones occurred within normal time range. Motor and musculoskeletal evaluation: normal motor skills; short fingers, hypermobility, clinodactyly of the 5 fingers, partial syndactyly of toes 2 and 3, abnormally large gap between toes 1 and 2, hypotrophy, narrow chest; dorsal kyphosis with internal rotation of shoulders (treated with a brace at puberty). Behavioral/psychiatric evaluation: no ASD or autistic features. Epilepsy/seizures: none. EEG: normal. Brain imaging: normal brain MRI. Additional medical history: partial hearing loss. Dysmorphic features: dolicocephaly, narrow and elongated face, synophrys, thick eyebrows, hypotelorism, short nose with anteverted nostrils, thin upper lip vermillion, pronounced philtrum, prognathism with pointed chin, dental crowding, low-set ears. Growth parameters: height of 161 cm (-0.5 SD) and head circumference of 53 cm (-1.5 SD) at age of 33 years. Family history: eldest of five children born to unrelated, healthy parents; borhter and sisters were also healthy; daughter exhibits similar phenotype.
Moderate intellectual disability; verbal and performance IQ scores both about 59 at age of 29 years.
176504013
177211796
707784
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case154265L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
177481971
177529925
47955
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60576
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
179600101
179641721
41621
Unknown
Duplication
No
riehmer_17_ASD/ID_discovery_cases-case1
16 yrs.
F
ASD and ID
Patient referred for assessment of syndromic autism and ID at age of 15 years. Birth/neonatal history: unremarkable pregnancy, apart from a maternal varicella infection within the first month; born at term with normal birth parameters (weight 3000 g, length 48 cm, head circumference 34 cm, APGAR 9/10/10); atrial septal defect type II and subvalvular aortic stenosis noted at birth (atrial septal defect surgically closed at 1 year, stenosis resected twice at 15 and 46 months). Developmental milestones: statomotor developmental delay noted between 4-10 months of age. Motor and musculoskeletal evaluation: ataxia; vertical gaze palsy; slender fingers. Brain imaging: Dandy Walker malformation with hypoplastic cerebellar vermis detected on MRI. Additional medical history: delayed puberty, hypogonadotropic hypogonadism. Auditory evaluation: bilateral sensorineural deafness. Dysmorphic features: bilateral epicanthic folds, low-set ears with a slightly crumpled appearance and deep nasolabial folds. Growth parameters: short stature (height of 149 cm, -2.9 SD); head circumference of 56 cm (+1.1 SD). Family history: second child of healthy, unrelated parents.
Mild intellectual disability [overall score of 53 (90% CI 50-59) on Wechsler Intelligence Scale for Children (WISC-IV)]
176930714
177239887
309174
GRCh38
Duplication
Yes
riehmer_17_ASD/ID_discovery_cases-case2
7 yrs.
F
ASD and learning disability
Birth/neonatal history: uneventful pregnancy except for cervical insufficiency from second trimester onward; born at 41 0/7 gestational weeks with no apparent congenital pathologies or dysmorphisms; birth weight 3040 g (-1 SD), length 49 cm (-1 SD), head circumference 34.0 cm (-1 SD). Developmental milestones: noticeably retarded motor coordination at 3.5 months of age; statomotor developmental delay subsequently diagnosed at 3 months; independent ambulation at 18 months; delayed speech development (first words after 2 years of age). Language and communication evaluation: below-average speech development (two-word sentences at 3 years 8 months of age); steady improvement in speech development with speech therapy. Motor and musculoskeletal evaluation: slender fingers. Behavioral/psychiatric evaluation: diagnosed with ASD at 6 years by a child and adolescent psychiatrist. Dysmorphic features: slightly upslanting palpebral fissures, tall forehead, elongated philtrum. Growth parameters: height of 120 cm (-0.5 SD), weight of 19.9 kg (-1 SD), head circumference of 49.5 cm (-1.5 SD). Family history: third child of a III-gravida mother and the first in this non-consanguineous partnership; father had no intellectual disability; maternal half-brother (patient 3 from family B in this report) presented with learning disability, intellectual disability, speech delay, hearing loss, dysmorphic features, slender fingers/thumbs, slender build, and secondary microcephaly; mother (patient 4 from family B in this report) presented with learning disability, speech delay, slender fingers/thumbs, slender build, secondary microcephaly, and delayed puberty.
Borderline low-normal IQ of 73 at age of 6 years [assessed by using the revised non-verbal Snijders-Oomen test (SON-R 2.5-7)]; learning disability
176910044
177431516
521473
GRCh38
Duplication
Yes
riehmer_17_ASD/ID_discovery_cases-case3
17 yrs.
M
Intellectual disability
Birth/neonatal history: cervical insufficiency in fifth month during an otherwise uneventful pregnancy; born at 38 weeks gestation; birth wight 2730 g (-1 SD), length 47 cm (-1 SD), head circumference 34.0 cm (average). Developmental milestones: immediate postnatal development reported as normal; normal motor development (started walking at 12 months); speech delay noted at 18 months. Motor and musculoskeletal evaluation: slender fingers. Behavioral/psychiatric evaluation: socially well-adjusted, no signs of ASD. Auditory evaluation: bilateral sensorineural hearing loss. Dysmorphic features: mild bilateral epicanthal folds, narrow palpebral fissures, hypertelorism. Growth parameters: growth normal during childhood, although head circumference stagnated during adolesence; height of 169 cm (-1.5 SD), weight of 45 kg (-3.5 SD), and head circumference of 53.2 cm (-2.5 SD), qualifying as secondary microcephaly. Family history: father had no intellectual disability; maternal half-sister (patient 2 from family B in this report) diagnosed with ASD and presented with learning disability, speech delay, motor delay, dysmorphic features, slender fingers/thumbs, and slender build; mother (patient 4 from family B in this report) presented with learning disability, speech delay, slender fingers/thumbs, slender build, secondary microcephaly, and delayed puberty.
Mild intellectual disability [IQ value of 64 using the age-appropriate revised non-verbal Snijders-Oomen test (SON-R 51/2-17).
176910044
177431516
521473
GRCh38
Duplication
No
riehmer_17_ASD/ID_discovery_cases-case4
39 yrs.
F
Learning disability and speech delay
Developmental milestones: delayed speech development and stuttering during childhood (as reported by her mother). Motor and musculoskeletal evaluation: slender fingers. Behavioral/psychiatric evaluation: no signs of ASD (in-depth neuropsychiatric examination not performed). Additional medical history: delayed puberty (menarche reportedly delayed at 15 years). Dysmorphic features: none. Growth parameters: height and weight within normal range, head circumference of 52.0 cm (-3 SD), indicating a likely secondary microcephaly. Family history: only child of non-consanguineous parents. two affected children (patients 2 and 3 from family B in this report), both of whom inherited the mother's 3q26.32/TBL1XR1 microduplication.
Learning disability (patient left school at age of 12 years, did not complete vocational training); offer of IQ testing was declined
176910044
177431516
521473
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: yes (onset at 1 day).
Developmental delay: N/A. Intellectual disability: N/A.
176805162
177119961
314800
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
Developmental delay: yes. Intellectual disability: Possibly mild.
177150265
177272994
122730
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
176166387
176189554
23168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11038.p1
7.6
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
178401581
178437966
36386
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
176171442
176197346
25905
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11195.p1
8.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11218.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 119; verbal IQ, 98
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11355.p1
8.8
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
176174144
176216825
42682
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11546.p1
11.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
176171442
176211886
40445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
176975801
176988814
13014
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11566.p1
7.6
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 92; verbal IQ, 100
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11601.p1
6.3
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11714.p1
6.4
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 99
176171442
176189554
18113
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
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11776.p1
6.1
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11810.p1
7.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 87; verbal IQ, 104
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
178401581
178437966
36386
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
179250780
179332933
82154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
176171442
176185212
13771
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12063.p1
8.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
176177948
176219995
42048
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
176156437
176189554
33118
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
176941624
177166939
225316
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12679.p1
9.7
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 110; verbal IQ, 93
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12799.p1
4
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 49
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
176114647
176189554
74908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13324.p1
4.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 78
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13327.p1
12.6
M
Aspergers
NA
Full-scale IQ, 103; non-verbal IQ, 95; verbal IQ, 118
176171442
176211886
40445
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case40
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
179115934
179168821
52888
GRCh38
Deletion
No
zhang_23_ASD/DD/ID_discovery_cases-caseASD0214
4 yrs.
F
ASD, developmental delay, and intellectual disability
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: language deficits, global developmental delay, feeding difficulties.
Intellectual disability, cognitive disorders
176527160
178501647
1974488
GRCh38
Deletion
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
kanduri_15_ASD_discovery_controls-control_split1803
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
175893784
175907342
13559
Unknown
Deletion
No
nord_11_ASD_discovery_controls-04C27500
Control
178175659
178190507
14849
Unknown
Deletion
sanders_11_ASD_discovery_controls-11032.s1
3.7
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
178401581
178437966
36386
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11207.s1
17.9
F
Control (matched sibling)
NA
NA
176171442
176197346
25905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
176171442
176200147
28706
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11524.s1
17.3
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
176177948
176219995
42048
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12063.s1
11.8
F
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12117.s1
12
F
Control (matched sibling)
NA
NA
176171442
176185212
13771
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
176171442
176197346
25905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
178387553
178392598
5046
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12440.s1
5.1
F
Control (matched sibling)
NA
NA
179213419
179226184
12766
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
179213419
179226184
12766
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12944.s1
4.8
M
Control (matched sibling)
NA
NA
176174144
176189554
15411
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12951.s1
12.1
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12975.s1
7.3
F
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
176494720
176498979
4260
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13324.s1
16.3
M
Control (matched sibling)
NA
NA
176171442
176189554
18113
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
176166387
176197346
30960
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_19_ASD_discovery_cases-caseAUT003.3
Maternal
Multiplex
Not segregated
KCNMB2
cucinotta_23_ASD_discovery_cases-case137
Maternal
TBL1XR1,LINC01208,MTND5P15,TBL1XR1-AS1,RNU6-681P
digregorio_17_DD/ID_discovery_cases-DECIPHER_300216
Unknown
ZMAT3
gai_11_ASD_discovery_cases-AU1406301
Inherited
0 genes
guo_18_ASD/DD/ID_discovery_cases-caseBK-250-03
aCGH, Sanger sequencing
Paternal
Simplex
Unknown
PIK3CA
leblond_19_ASD_discovery_cases-casePN400127
Maternal
Simplex
Unknown
TBL1XR1-AS1,TBL1XR1
lintas_17_ASD_discovery_cases-case6.2
Validation by visual inspection, RT-PCR, or PCR
Maternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
MTND5P15,RNU6-681P,TBL1XR1-AS1,TBL1XR1
maini_18_ASD/DD/ID_discovery_cases-case_unknown153
Paternal
Unknown
Unknown
KCNMB2,KCNMB2-AS1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530914
Unknown
TBL1XR1,ASS1P7,LINC00501,MTND5P15,TBL1XR1-AS1,RNU6-681P
pinto_10_ASD_discovery_cases-case5248_3
Agilent1M
maternal
NA
NA
RNA5SP148,LINC01014,KCNMB2
pons_14_ID_discovery_cases-case1
qPCR
Maternal
Maternal
Multi-generational
Segregated
MIR7977,RNA5SP147,MTND5P15,RNU6-681P,LINC01208,TBL1XR1-AS1,LINC01209,TBL1XR1
pons_14_ID_discovery_cases-case2
qPCR
De novo
Multi-generational
Segregated
MIR7977,RNA5SP147,MTND5P15,RNU6-681P,LINC01208,TBL1XR1-AS1,LINC01209,TBL1XR1
prasad_12_ASD_discovery_cases-case154265L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60576
Unknown
Unknown
Unknown
0 genes
riehmer_17_ASD/ID_discovery_cases-case1
qPCR
De novo
Simplex
Likely segregated
MTND5P15,RNU6-681P,TBL1XR1-AS1,TBL1XR1
riehmer_17_ASD/ID_discovery_cases-case2
qPCR
Maternal
Maternal
Multi-generational
Likely segregated
MTND5P15,RNU6-681P,ASS1P7,TBL1XR1-AS1,LINC00501,TBL1XR1
riehmer_17_ASD/ID_discovery_cases-case3
Maternal
Maternal
Multi-generational
Likely segregated
MTND5P15,RNU6-681P,ASS1P7,TBL1XR1-AS1,LINC00501,TBL1XR1
riehmer_17_ASD/ID_discovery_cases-case4
Unknown (not maternal)
Multi-generational
Likely segregated
MTND5P15,RNU6-681P,ASS1P7,TBL1XR1-AS1,LINC00501,TBL1XR1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-226a2
qPCR
Paternal
Unknown
Unknown
MTND5P15,TBL1XR1-AS1,LINC01209,TBL1XR1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
qPCR
Maternal
Unknown
Unknown
TBL1XR1
sanders_11_ASD_discovery_cases-11032.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11038.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNA5SP148,LINC01014,KCNMB2
sanders_11_ASD_discovery_cases-11044.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11115.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11195.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11218.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11355.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11546.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11564.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11566.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11569.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11601.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11714.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11720.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11776.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11810.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11841.p1
Paternal
Simplex (trio)
NA
RNA5SP148,LINC01014,KCNMB2
sanders_11_ASD_discovery_cases-11846.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11883.p1
Paternal
Simplex (quad-proband matched)
Segregated
LRRFIP1P1,ZNF639,KCNMB3
sanders_11_ASD_discovery_cases-11986.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12063.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12071.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12198.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12233.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12310.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12404.p1
Paternal
Simplex (trio)
NA
MTND5P15,RNU6-681P,TBL1XR1-AS1,TBL1XR1
sanders_11_ASD_discovery_cases-12679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12799.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12838.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12894.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12975.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13042.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13089.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13327.p1
Paternal
Simplex (quad-proband matched)
Not segregated
wenger_16_ASD_discovery_cases-case40
Unknown
PIK3CA
zhang_23_ASD/DD/ID_discovery_cases-caseASD0214
qPCR
De novo
TBL1XR1,ASS1P7,LINC00578,LINC01208,RNA5SP147,LINC00501,MTND5P15,RNA5SP148,LINC01014,TBL1XR1-AS1,LINC01209,LINC02015,RN7SKP52,RNU6-1120P,RNU6-681P,PPIAP75,KCNMB2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1803
Unknown
Intergenic CNV: nearest genes, NAALADL2(dist=370356),TBL1XR1(dist=831200)
nord_11_ASD_discovery_controls-04C27500
0 genes
sanders_11_ASD_discovery_controls-11032.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11038.s1
Maternal
Simplex (quad)
NA
RNA5SP148,LINC01014,KCNMB2
sanders_11_ASD_discovery_controls-11207.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11436.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11524.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11986.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12063.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12117.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12233.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Paternal
Simplex (quad)
NA
KCNMB2
sanders_11_ASD_discovery_controls-12440.s1
Unknown
Simplex (quad)
NA
PIK3CA
sanders_11_ASD_discovery_controls-12799.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12888.s1
Both parents
Simplex (quad)
NA
PIK3CA
sanders_11_ASD_discovery_controls-12894.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12944.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12951.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12975.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13042.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13195.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13324.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13327.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available