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3q26.32CNV Type: Deletion-Duplication


Largest CNV size: 225315 bp

Statistics Box:
Number of Reports: 14



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

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
NA
Deletion
NA
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 bacchelli_19_ASD_discovery_cases
  NA NA
 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
 digregorio_17_DD/ID_discovery_cases
  NA NA
 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
  NA NA
 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
 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

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
 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
 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

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
  NA NA
 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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300216
  NA NA
 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
  NA NA
 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
  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

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
 
 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
 
 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
 

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
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