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12p12.1CNV Type: Deletion-Duplication


Largest CNV size: 54812 bp

Statistics Box:
Number of Reports: 15


Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic...
Deletion
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
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
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NA
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 279000
 0
 1
 1
 edgerley_23_ASD/DD/ID_discovery_cases
 Individuals with 12p12.1 intragenic microdeletions affecting the SOX5 gene from an initial cohort of 16 individuals with heterozygous SOX5 variation identified either through the UK DECIPHER database, or the study team was contacted by clinicians directly.
 7
 All seven cases presented with developmental delay and intellectual disability; one case was also formally diagnosed with autism spectrum disorder, while two additional cases presented with autistic features.
 Range, 6 yrs. 3 mos.-18 yrs.
 57.14% Male
 556280
 7
 0
 7
 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
 184054
 1
 1
 2
 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
 
 
 174343
 1
 0
 1
 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
 555394
 1
 4
 5
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 3099
 1
 0
 1
 lamb_12_ASD_discovery_cases
 Subjects referred for clinical molecular cytogenetic testing to Signature Genomic Laboratories, Seattle Children's Hospital, Pittsburgh Cytogenetic Laboratories, Nantes University Hospital, or Hpital Jean Verdier, or through enrollment in Developmental Genome Anatomy Project (DGAP).
 1
 Diagnosis of PDD and atypical autism through the Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) program (uses CARS and Psychoeducational Profile-Third Edition/PEP-3 assessment tools)
 15.5 yrs.
 Male
 156000
 1
 0
 1
 lamb_12_DD/ID_discovery_cases
 Subjects referred for clinical molecular cytogenetic testing to Signature Genomic Laboratories, Seattle Children's Hospital, Pittsburgh Cytogenetic Laboratories, Nantes University Hospital, or Hpital Jean Verdier, or through enrollment in Developmental Genome Anatomy Project (DGAP).
 14
 Developmental delay (DD) and/or intellectual disability (ID). Several cases also display ADHD or autistic beahviors.
 Range, 4.5 mos.-11 yrs.
 35.71% Male
 1410000
 8
 0
 8
 miclea_22_DD/ID_discovery_cases
  NA NA
 Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
 189
 Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
 Range, 1-18 yrs.
 51.85% Male
 4303
 1
 0
 1
 mosca_16_DCD_discovery_cases
 Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
 82
 All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
 Range, 8-17 years (Mean, 10.06 2.92 yrs.)
 N/A
 20527
 1
 0
 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)
 264272
 1
 1
 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
 22356
 6
 1
 7
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 493439
 1
 1
 2
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 155816
 1
 0
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 0
 0
 0
 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
 54812
 24
 4
 28
 schanze_12_ID_discovery_cases
 Three unrelated patients with overlapping 12p12.1 microdeletions (two of these patients identified following a search of the DECIPHER database after detection of microdeletion in patient 1).
 3
 Intellectual disability (ID), motor and speech delays
 Range, 2.5-9 yrs.
 66.67% Male
 2260000
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 368682
 1
 4
 5
 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
 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
 81784
 1
 0
 1
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 3099
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 83878
 2
 2
 4
 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)
 0
 0
 0
 0
 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)
 22356
 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.
 
 46023
 17
 6
 23

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 edgerley_23_ASD/DD/ID_discovery_cases
  United Kingdom
 aCGH, array SNP, NGS
  NA
 NA
 NA
 FISH, RT-PCR, aCGH
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 lamb_12_ASD_discovery_cases
  NA
 aCGH
  SignatureChip 105K whole-genome array (SignatureChip OS v1)
 
 
 FISH
 lamb_12_DD/ID_discovery_cases
  NA
 aCGH, solid phase hybridization
  SignatureChip 105K whole-genome array (SignatureChip OS v1), SignatureChip 135K array (SignatureChip OS v2), Agilent 105K, Agilent 180K, Roche NimbleGen 135K, Illumina HumanHap300
 
 
 FISH
 miclea_22_DD/ID_discovery_cases
  Romania
 Solid phase hybridization
  Illumina Infinium OmniExpress-24 BeadChip
 NA
 Illumina GenomeStudio v.2.0.
 None
 mosca_16_DCD_discovery_cases
  Canada
 Solid phase hybridization
  Illumina HumanOmni2.5-Quad BeadChip
 iPattern, PennCNV, QuantiSNP, CNVPartition
 
 None
 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
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 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
 
 
 schanze_12_ID_discovery_cases
  1 German, 1 British, 1 unknown
 aCGH, array SNP
  Affymetrix 6.0, Agilent OGT CytoSure ISCA 8x60K, Baylor College of Medicine/Agilent microarray v8.0
 
 Affymetrix Genotyping 4.1, ChAS v1.2, CytoSure Interpret v3.4.3, custom analytical software
 MLPA, FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
  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
 
 
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300149
  NA NA
 N/A
 F
 Cognitive impairment
 
 Cognitive impairment
 24832831
 25111920
  279090
 GRCh38
 Duplication
 No
  edgerley_23_ASD/DD/ID_discovery_cases-case1
 15 yrs 5 mos.
 M
 ASD, developmental delay, and intellectual disability
 Case reported in DECIPHER database (DECIPHER ID 354046). Developmental milestones: delayed first words, walking at 15 months, delayed fine motor development. Motor and musculoskeletal evaluation: hypermobility. Behavioral/psychiatric evaluation: formal diagnosis of autism spectrum disorder (autism), sleep problems. Additional medical history: hearing loss. Growth parameters: weight 10th %ile (-1.26 SD), height 25th %ile (-0.65 SD), OFC 26th %ile (-0.63 SD).
 Intellectual disability
 23576437
 23675507
  99071
 GRCh38
 Deletion
 No
  edgerley_23_ASD/DD/ID_discovery_cases-case12
 7 yrs.
 F
 Developmental delay and intellectual disability
 Case reported in DECIPHER database (NHS-359369). Developmental milestones: first words at 2 years, walking at 2 years. Motor and musculoskeletal evaluation: hypermobility, gait abnormality. Behavioral/psychiatric evaluation: behavioral abnormalities (self-injurious behavior), sleep problems. Additional medical history: hearing loss, ocular anomalies, skin anomalies (dry skin, stork mark on her occiput), feeding problems (lactose intolerance). Growth parameters: weight 91st-98th %ile (1.77 SD), height 91st %ile (1.66 SD), OFC 60th %ile (0.24 SD). Family history: affected mother.
 Intellectual disability
 23944863
 24501142
  556280
 GRCh38
 Deletion
 Yes
  edgerley_23_ASD/DD/ID_discovery_cases-case13
 6 yrs. 3 mos.
 M
 Developmental delay and intellectual disability
 Case reported in DECIPHER database (NHS-408112). Developmental milestones: first words at 2 years, followed by regression at 2.5 years and improvement at 4 years; walking at 14-15 months, delayed fine motor development. Behavioral/psychiatric evaluation: behavioral abnormalities, sleep problems. Additional medical history: skin anomalies (dry skin). Growth parameters: weight 38th %ile (-0.30 SD), height 65th %ile (0.38 SD), OFC 8th %ile (-1.40 SD).
 Intellectual disability
 24097797
 24654076
  556280
 GRCh38
 Deletion
 Yes
  edgerley_23_ASD/DD/ID_discovery_cases-case2
 16 yrs.
 F
 Developmental delay and intellectual disability
 Case reported in DECIPHER database (DECIPHER ID 294280). Developmental milestones: first words at 20 months, walking at 25 months, delayed fine motor development. Motor and musculoskeletal evaluation: gait abnormality. Behavioral/psychiatric evaluation: unknown. Additional medical history: ocular anomalies. Growth parameters: weight 61st %ile (0.27 SD), height 16th %ile (-0.99 SD), OFC 41st %ile (-0.23 SD).
 Intellectual disability
 23765508
 23919836
  154329
 GRCh38
 Deletion
 Yes
  edgerley_23_ASD/DD/ID_discovery_cases-case7
 11 yrs.
 F
 Developmental delay, intellectual disability, and autistic features
 Case reported in DECIPHER database (DECIPHER ID 282980). Growth parameters: unknown. Developmental milestones: still using Makaton at age 6, walking at 18 months. Behavioral/psychiatric evaluation: autistic traits. Additional medical history: ocular anomalies, asthma. Growth parameters: unknown. Family history: SOX5 deletion is also observed in a similarly affected sibling but was not observed in either unaffected parent (suggesting likely parental gonadal mosaicism).
 Intellectual disability
 23718514
 23841144
  122631
 GRCh38
 Deletion
 No
  edgerley_23_ASD/DD/ID_discovery_cases-case8
 18 yrs.
 M
 Developmental delay, intellectual disability, and autistic features
 Developmental milestones: first words at 18 months-2 years, walking at 18 months, delayed fine motor development. Behavioral/psychiatric evaluation: autistic traits, sleep problems. Additional medical history: ocular anomalies, skin anomalies (large cafe-au-lait macule), feeding problems. Growth parameters: unknown. Family history: SOX5 deletion is also observed in a similarly affected sibling but was not observed in either unaffected parent (suggesting likely parental gonadal mosaicism).
 Intellectual disability
 23718514
 23841144
  122631
 GRCh38
 Deletion
 No
  edgerley_23_ASD/DD/ID_discovery_cases-case9
 9 yrs. 10 mos.
 M
 Developmental delay and intellectual disability
 Developmental milestones: first words at 6 years, walking at 30 months, delayed fine motor development. Motor and musculoskeletal evaluation: hypermobility, hypotonia. Behavioral/psychiatric evaluation: behavioral abnormalities, sleep problems. Brain imaging: abnormal brain MRI (increased perivascular spaces, enlarged lateral ventricles, thinning of the corpus callosum). Additional medical history: hearing loss (long-term prescription for recurrent middle ear infections), ocular anomalies, feeding problems. Growth parameters: weight 0th %ile (-0.006 SD), height 86th %ile (1.058 SD), OFC 39th %ile (-0.270 SD).
 Intellectual disability
 23924962
 24349949
  424988
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case16043_1571070001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21197613
 21242974
  45362
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4326_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 25878810
 26062864
  184055
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1368302
 
 
 Autism
 
 
 21243808
 21418150
  174343
 Unknown
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000929
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24638349
 25193743
  555395
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001196
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24638349
 25193743
  555395
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002724
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23815416
 24068288
  252873
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004080
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24638349
 25193743
  555395
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004817
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24638349
 25193743
  555395
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12997.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12997. SRS score of 81.
 Full-scale IQ (FSIQ) score of 97.
 25111771
 25114870
  3100
 GRCh38
 Deletion
 Yes
  lamb_12_ASD_discovery_cases-subject3
 15.5 yrs.
 M
 ASD
 Diagnosis of PDD and atypical autism through the Treatment and Education of Autistic and Communication Handicapped Children (TEACCH) program (uses CARS and Psychoeducational Profile-Third Edition/PEP-3 assessment tools). Developmental milestones: speech delay (1st word at 2 yrs., two-word phrases at 4 yrs.). Motor and musculoskeletal evaluation: hypotonia in face and lower limbs; dyspraxia; awkward gait; butterfly vertebrae of thoracic spine; mild scoliosis. Behavioral/psychiatric evaluation: aggression, mood instability. Other medical concerns and comorbidities: chronic constipation. Dysmorphic features: small, simple ears, low nasal bridge, high arched feet. Growth parameters: height, 10th %ile; weight, 10th %ile; OFC, 10th %ile. Family history: not specified.
 IQ 45-70
 23499030
 23654846
  155817
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject1
 2.5 yrs.
 M
 DD/ID
 Speech delay: moderate-severe speech delay. Motor delay: NA. Behavioral problems: PDD; self injury. Hypotonia: none. Seizures: none. Brain malformations: NA. Other neurological features: clumsiness; left facial drooping. Musculoskeletal anomalies: flat feet, scapular winging. Additional features: heart murmur, shawl scrotum, cryptorchidism, hepatomegaly. Ophthalmologic features: none. Dysmorphic features: flat occiput, frontal bossing, crumpled ear looblue, broad and low nasal bridge, upturned nose with bulbous tip, accentuated prominent philtral ridges, prominent and full lips. Growth parameters: hemihypertrophy; weight, 75th-90th %ile; height, 25th-50th %ile; OFC, 25th %ile. Family history: NA.
 DD/ID
 23484745
 23564581
  79837
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject15
 3 yrs.
 M
 Developmental delay + autistic features
 Speech delay: first words at 3 years. Motor delay: NA. Behavioral problems: autistic, hyperactivity. Hypotonia: yes. Seizures: none. Brain malformations: short and thick corpus callosum. Other neurological features: none. Musculoskeletal anomalies: congenital torticollis. Additional features: feeding difficulties. Ophthalmologic features: myopia, strabismus. Dysmorphic features: none. Growth parameters: weight, 25th-50th %ile; height, 75th %ile; OFC, 10th %ile. Family history: NA.
 Moderate developmental delay
 23771798
 25177972
  1406175
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject2
 3.5 yrs.
 F
 Developmental delay
 Speech delay: severe mixed receptive/expressive language disorder. Motor delay: NA. Behavioral problems: aggression, stereotypies (rocking, hand flapping, spinning, clapping, self injury), severe hyperkinesis. Hypotonia: none. Seizures: yes. Brain malformations: mild periventricular leukomalacia. Other neurological features:. Musculoskeletal anomalies: none. Additional features: none. Ophthalmologic features: intermittent exotropia. Dysmorphic features: none. Growth parameters: weight, 3rd %ile; height, 10th-25th %ile; OFC, <2nd %ile. Family history: non-contributory.
 Global developmental disorder; functioning at 12-24 months level at age of 4 years
 23488792
 23626279
  137488
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject4
 11 yrs.
 F
 Intellectual disability
 Speech delay: no language, had 2 words at 5-6 years but lost them. Motor delay: NA. Behavioral problems: stereotypies (rocking, hand motions), avoidance of eye contact, occasional aggression. Hypotonia: none. Seizures: none. Brain malformations: none. Other neurological features: none. Musculoskeletal anomalies: overlapping toes. Additional features: thyroglossal duct cyst. Ophthalmologic features: strabismus. Dysmorphic features: narrowed forehead, thick hemmed ears. Growth parameters: weight, 3rd-10th %ile; height, 25th %ile; OFC, 3rd %ile. Family history: non-contributory.
 Moderate-severe intellectual disability
 23521323
 23986895
  465573
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject6
 4 yrs.
 M
 Developmental delay
 Speech delay: severe speech delay, no words at 4 years. Motor delay: NA. Behavioral problems: none. Hypotonia: truncal hypotonia. Seizures: none. Brain malformations: prominent subarachanoid space. Other neurological features: none. Musculoskeletal anomalies: none. Additional features: none. Ophthalmologic features: blue sclerae, strabismus. Dysmorphic features: mild frontal bossing. Growth parameters: failure to thrive, resolved; weight, <3rd %ile; height, NA; OFC, 25th %ile. Family history: mother had short stature, borderline microcephaly, moderate ID, and did not speak until 8 years; sister (2.5 years old) carries deletion and has moderate global developmental delay (walking at 22 months), strabismus, and is nonverbal.
 Moderate global developmental delay
 23701648
 23835102
  133455
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject7
 4.3 yrs.
 F
 Developmental delay
 Speech delay: present; Bayley III language score 6th %ile. Motor delay: yes; Bayley III scores at 30 months, motor 12th %ile. Behavioral problems: none. Hypotonia: none. Seizures: none. Brain malformations: NA. Other neurological features: none. Musculoskeletal anomalies: none. Additional features: hypopigmentation of labia. Ophthalmologic features: left intermittent esotropia, astigmatism. Dysmorphic features: epicanthal folds. Growth parameters: weight, 72nd %ile; height, 71st %ile; OFC, NA. Family history: maternal history of substance abuse.
 
 23942451
 24197045
  254595
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject8
 7.7 yrs.
 M
 Developmental delay + ADHD
 Speech delay: first words at 4.5 years. Motor delay: slight motor delays. Behavioral problems: ADHD, behavior problems in school. Hypotonia: slight hypotonia. Seizures: none. Brain malformations: NA. Other neurological features: none. Musculoskeletal anomalies: flat feet, genu valgum, outturned ankles. Additional features: none. Ophthalmologic features: strabismus. Dysmorphic features: brachycephaly, frontal bossing, displaced occipital hair whorl, short philtrum, crowded teeth, rounder lower facies. Growth parameters: weight, >97th %ile; height, 90th %ile; OFC, 50th %ile. Family history: mother with learning disability.
 IQ 60
 23957583
 24212634
  255052
 GRCh38
 Deletion
 Yes
  lamb_12_DD/ID_discovery_cases-subject9
 3.5 yrs.
 F
 Developmental delay
 Speech delay: none. Motor delay: early motor delays. Behavioral problems: none. Hypotonia: yes. Seizures: none. Brain malformations: NA. Other neurological features: poor balance, decreased strength. Musculoskeletal anomalies: lumbar scoliosis, reduced muscle bulk. Additional features: multiple cardiac defects (atrioventricular canal, atrial septal defect, coarctation of aorta, patent ductus arteriosus), G-tube for feeding. Ophthalmologic features: amblyopia. Dysmorphic features: frontal bossing, deep-set eyes, hypoplastic midface. Growth parameters: weight, <3rd %ile; height,<3rd %ile; OFC, 50th %ile. Family history: father and paternal grandmother carry deletion and are healthy.
 Intellectual development average-to-advanced
 24362424
 24433940
  71517
 GRCh38
 Deletion
 Yes
  miclea_22_DD/ID_discovery_cases-case84
  NA NA
 NA
 NA
 Developmental delay and intellectual disability
 Global developmental delay, dysmorphic features, hypotonia
 Intellectual disability
 23683277
 23687579
  4303
 GRCh38
 Deletion
 No
  mosca_16_DCD_discovery_cases-case106403
 N/A
 M
 DCD (with or without ADHD and/or RD)
 Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
 
 21777593
 21798119
  20527
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case05HI3629A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
 
 21200506
 21373433
  172928
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case99HI1144B
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU020404; NDAR ID NDAR_INVPN168CVH)
 
 21801042
 22065313
  264272
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case102040
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 21251054
 21273409
  22356
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case104196
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21457001
 21475935
  18935
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case117482L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21457001
 21475935
  18935
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case121858
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21447403
 21463163
  15761
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case48226
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21457001
 21475935
  18935
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case55360
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 21457001
 21475935
  18935
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL384
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 25044933
 25055655
  10723
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_402
 4 yrs.
 M
 Developmental delay
 Short stature
 Global developmental delay
 21147542
 21425325
  277784
 GRCh38
 Duplication
 No
  quintela_17_DD/ID_discovery_cases-caseID_6
 5 yrs.
 M
 Developmental delay/intellectual disability
 Patient originally reported in Quintela et al. 2015e
 
 23616152
 24109590
  493439
 GRCh38
 Deletion
 No
  rosenfeld_10_ASD_discovery_cases-case25883
 NA
 NA
 ASD
 NA
 NA
 23499030
 23654846
  155817
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11014.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
 25496423
 25501511
  5089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11051.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 102; verbal IQ, 114
 21401804
 21419044
  17241
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11075.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 54; verbal IQ, 24
 25496423
 25501511
  5089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11161.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 74; verbal IQ, 59
 21158784
 21163279
  4496
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11197.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
 21414859
 21431775
  16917
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11333.p1
 9.8
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
 23001521
 23003660
  2140
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11413.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 95; non-verbal IQ, 104; verbal IQ, 102
 21401804
 21419044
  17241
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11488.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
 23001521
 23003660
  2140
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11526.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
 21401804
 21419044
  17241
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 22372942
 22382779
  9838
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 22674959
 22690273
  15315
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11598.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
 22715231
 22717208
  1978
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11660.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
 21414859
 21431775
  16917
 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
 21779150
 21797661
  18512
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11918.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
 21973380
 21993996
  20617
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 24811449
 24817774
  6326
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11941.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
 21979291
 21993996
  14706
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 21188162
 21242974
  54813
 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
 21414859
 21431775
  16917
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 21414859
 21431775
  16917
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 25496423
 25501511
  5089
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12317.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
 21414859
 21431775
  16917
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12480.p1
 13.1
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
 21401804
 21431775
  29972
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12485.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
 23001521
 23003660
  2140
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12843.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
 21619383
 21654706
  35324
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13021.p1
 12.3
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
 21414859
 21431775
  16917
 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
 21779150
 21797661
  18512
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13301.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 95; verbal IQ, 124
 21158784
 21163279
  4496
 GRCh38
 Deletion
 No
  schanze_12_ID_discovery_cases-case1
 2.5 yrs.
 M
 Intellectual disability
 Birth/neonatal history: mother treated with Citalopram during 1st months of pregnancy to treat depression disorder; prenatally detected nuchal edema (resulting aminocentesis and cytogenetic analysis revealed normal karyotype); born after 41 weeks of gestation. Birth parameters: normal. Developmental milestones: moderate motor delay (sitting without support at 12 months, walked independently at 21 months), speech delay (first words at 24 months, active vocabulary of 10 words at 29 months, receptive language skills appeared to be less delayed). Motor and musculoskeletal evaluation: mild hypotonia, flat feet. Behavioral anomalies: none. Epilepsy/seizures: none. Other features: diastasis recti. Dysmorphic features: down-slanting palpebral fissures, epicanthal folds, broad nasal bridge, upturned nouse, bulbous nasal tip, prominent philtral ridges, open mouth appearance, strabismus. Growth parameters: height 3rd-10th %ile, OFC 3rd-10th %ile. Family history: first child of non-consanguineous healthy parents of German origin; unremarkable family history.
 Mild intellectual disability
 22268931
 24525101
  2256171
 GRCh38
 Deletion
 Yes
  schanze_12_ID_discovery_cases-case2
 9 yrs.
 M
 Intellectual disability
 Birth/neonatal history: born at term after uneventful pregnancy by normal vaginal delivery. Birth parameters: normal. Developmental milestones: moderate motor delay (walked at 17 months), speech delay (4 words at 4 yrs. 9 mos.). Motor and musculoskeletal evaluation: normal reflexes, unsteady gait, 5th finger clinodactyly. Behavioral anomalies: yes; clapped hands loudly or hit himself or banged doors when frustrated, presented with a number of rituals i.e. related to manual rotation of washing machine, no imaginative play. Epilepsy/seizures: none. Sleep disturbances: sleep disorder. Other features: chronic constipation, myopia, episodes of bronchiolitis (at age of 8 and 16 weeks). Dysmorphic features: high forehead, down-slanting palpebral fissures, chubby cheeks, notched nares, prominent philtral ridges, open mouth appearance, thin upper lip, drooping lower lip, pointed chin, prominent upper median incisors. Growth parameters: height 50th %ile, weight 50th %ile, OFC 25th %ile. Family history: firstborn of non-consanguineous, healthy parents of white British origin; non-contributory family history.
 Mild-to-moderate intellectual disability
 23771866
 23889034
  117169
 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
  engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
  N/A
  N/A
  Control
  No previous psychiatric history
 
  25680084
  25845059
  164976
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
  N/A
  N/A
  Control
  No previous psychiatric history
 
  24742643
  25111325
  368683
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900564_900564
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21666908
  21706115
  39208
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902570_902570
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21188162
  21246287
  58126
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
  N/A
  N/A
  Control
  No previous psychiatric history
 
  21176804
  21263479
  86676
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1532
  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
 
  22618605
  22700388
  81784
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12997.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12997. SRS score of 40.
 
  25111771
  25114870
  3100
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control12447.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21196945
  21239189
  42245
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13493.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21200507
  21206033
  5527
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13801.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  21200507
  21206033
  5527
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14463.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  24818007
  24901885
  83879
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11014.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  25496423
  25501511
  5089
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11033.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  22095974
  22098435
  2462
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  21401804
  21419044
  17241
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11075.s1
  9.9
  M
  Control (matched sibling)
  NA
  NA
  25496423
  25501511
  5089
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  24811449
  24819310
  7862
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11413.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  21401804
  21419044
  17241
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11424.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  21411424
  21431775
  20352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11526.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  21401804
  21419044
  17241
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11536.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  24326560
  24332495
  5936
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11569.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  24140116
  24144688
  4573
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11722.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  21779150
  21797661
  18512
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  24811449
  24817774
  6326
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12029.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  21196951
  21242974
  46024
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  22095974
  22104210
  8237
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12154.s1
  9.1
  F
  Control (matched sibling)
  NA
  NA
  23001521
  23003660
  2140
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12173.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  24811449
  24817774
  6326
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12189.s1
  6.7
  F
  Control (matched sibling)
  NA
  NA
  22095974
  22104210
  8237
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12317.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  21414859
  21431775
  16917
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  25496423
  25501511
  5089
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12447.s1
  7.6
  F
  Control (matched sibling)
  NA
  NA
  21196951
  21242974
  46024
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  21411424
  21431775
  20352
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13042.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  21779150
  21797661
  18512
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13057.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  25034236
  25038133
  3898
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300149
 
 
 Unknown
 
 
 CENPUP2,C12orf77,BCAT1,LRMP,CASC1
 
 edgerley_23_ASD/DD/ID_discovery_cases-case1
 
 
 Unknown
 
 
 SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case12
 FISH
 Maternal
 Maternal
 
 Segregated
 MIR920,SOX5-AS1,SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case13
 FISH
 
 De novo
 
 
 LINC00477,MIR920,KNOP1P1,SOX5-AS1,SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case2
 aCGH
 
 De novo
 
 
 SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case7
 
 
 De novo (germline mosaicism)
 Multiplex
 Segregated
 SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case8
 
 
 De novo (germline mosaicism)
 Multiplex
 Segregated
 SOX5
 
 edgerley_23_ASD/DD/ID_discovery_cases-case9
 RT-PCR
 
 De novo
 
 
 MIR920,SOX5-AS1,SOX5
 
 engchuan_15_ASD_discovery_cases-case16043_1571070001
 
 
 Unknown
 
 
 SLCO1B1
 
 engchuan_15_ASD_discovery_cases-case4326_1
 
 
 Unknown
 
 
 RASSF8,RASSF8-AS1
 
 gai_11_ASD_discovery_cases-AU1368302
 
 
 Inherited
 
 
 SLCO1B1, SLCO1A2, IAPP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000929
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CENPUP2,RN7SL38P,C12orf77,BCAT1,LRMP,CASC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001196
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 CENPUP2,RN7SL38P,C12orf77,BCAT1,LRMP,CASC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002724
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 SOX5
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004080
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CENPUP2,RN7SL38P,C12orf77,BCAT1,LRMP,CASC1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004817
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CENPUP2,RN7SL38P,C12orf77,BCAT1,LRMP,CASC1
 
 krumm_13_ASD_discovery_cases-case12997.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Paternal
 Simplex
 Not segregated
 CASC1
 
 lamb_12_ASD_discovery_cases-subject3
 FISH
 
 De novo
 
 
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject1
 FISH
 
 De novo
 
 
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject15
 FISH
 
 De novo
 
 
 MIR920,KNOP1P1,CENPUP2,SOX5-AS1,LINC00477,RN7SL38P,C12orf77,BCAT1,LRMP,SOX5,CASC1
 
 lamb_12_DD/ID_discovery_cases-subject2
 FISH
 
 De novo
 
 
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject4
 FISH
 
 De novo
 
 
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject6
 FISH
 Maternal
 Maternal
 Multiplex
 Segregated
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject7
 FISH
 
 Unknown
 
 
 SOX5
 
 lamb_12_DD/ID_discovery_cases-subject8
 FISH
 
 Unknown
 
 
 MIR920,SOX5
 
 lamb_12_DD/ID_discovery_cases-subject9
 FISH
 
 Paternal
 
 
 SOX5
 
 miclea_22_DD/ID_discovery_cases-case84
 
 
 Unknown
 
 
 SOX5
 
 mosca_16_DCD_discovery_cases-case106403
 
 
 Unknown
 Unknown
 Unknown
 ABCC9
 
 poultney_13_ASD_discovery_cases-case05HI3629A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 SLCO1B1,SLCO1A2,IAPP
 
 poultney_13_ASD_discovery_cases-case99HI1144B
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 CMAS,ABCC9,ST8SIA1
 
 prasad_12_ASD_discovery_cases-case102040
 
 
 Unknown
 Unknown
 Unknown
 SLCO1B1
 
 prasad_12_ASD_discovery_cases-case104196
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case117482L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case121858
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case48226
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case55360
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-caseL384
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_402
 
 
 Unknown
 
 Unknown
 SLCO1B1,SLCO1A2,IAPP
 
 quintela_17_DD/ID_discovery_cases-caseID_6
 
 
 De novo
 
 Possibly segregated
 SOX5
 
 rosenfeld_10_ASD_discovery_cases-case25883
 FISH
 
 De novo
 Unknown
 Unknown
 SOX5
 
 sanders_11_ASD_discovery_cases-11014.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LMNTD1
 
 sanders_11_ASD_discovery_cases-11051.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-11075.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LMNTD1
 
 sanders_11_ASD_discovery_cases-11161.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 SLCO1B1
 
 sanders_11_ASD_discovery_cases-11197.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-11333.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11413.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-11488.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11526.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ST8SIA1
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ETNK1
 
 sanders_11_ASD_discovery_cases-11598.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11660.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-11722.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ABCC9
 
 sanders_11_ASD_discovery_cases-11918.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 BCAT1
 
 sanders_11_ASD_discovery_cases-11941.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1B1
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Paternal
 Simplex (trio)
 NA
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LMNTD1
 
 sanders_11_ASD_discovery_cases-12317.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-12480.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-12485.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12843.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 LDHB
 
 sanders_11_ASD_discovery_cases-13021.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SLCO1A2
 
 sanders_11_ASD_discovery_cases-13042.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ABCC9
 
 sanders_11_ASD_discovery_cases-13301.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 SLCO1B1
 
 schanze_12_ID_discovery_cases-case1
 MLPA
 
 De novo
 Simplex
 Likely segregated
 LRRC34P1,RPS27P22,MIR920,SOX5-AS1,ST8SIA1,C2CD5,ETNK1,SOX5
 
 schanze_12_ID_discovery_cases-case2
 FISH
 
 De novo
 Simplex
 Likely segregated
 SOX5
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
 
 
  Unknown
 
 
  RN7SKP262,TDGP1
 
engchuan_15_ASD_discovery_controls-controlHABC_900510_900510
 
 
  Unknown
 
 
  CENPUP2,C12orf77,BCAT1,LRMP,CASC1
 
engchuan_15_ASD_discovery_controls-controlHABC_900564_900564
 
 
  Unknown
 
 
  LDHB
 
engchuan_15_ASD_discovery_controls-controlHABC_902570_902570
 
 
  Unknown
 
 
  SLCO1B1
 
engchuan_15_ASD_discovery_controls-controlHABC_902854_902854
 
 
  Unknown
 
 
  SLCO1B1
 
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  C2CD5
 
krumm_13_ASD_discovery_controls-control12997.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  CASC1
 
krumm_15_ASD_discovery_controls-control12447.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SLCO1B1
 
krumm_15_ASD_discovery_controls-control13493.s1
  1M-Duov3
 
  Paternal
 
 
  SLCO1B1
 
krumm_15_ASD_discovery_controls-control13801.s1
  Omni2.5-4v1
 
  Maternal
 
 
  SLCO1B1
 
krumm_15_ASD_discovery_controls-control14463.s1
  Omni2.5-4v1
 
  Paternal
 
 
  BCAT1
 
sanders_11_ASD_discovery_controls-11014.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LMNTD1
 
sanders_11_ASD_discovery_controls-11033.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ST8SIA1
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-11075.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LMNTD1
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Maternal
  Simplex (quad)
  NA
  BCAT1
 
sanders_11_ASD_discovery_controls-11413.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-11424.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-11526.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-11536.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SOX5
 
sanders_11_ASD_discovery_controls-11569.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SOX5
 
sanders_11_ASD_discovery_controls-11722.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ABCC9
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BCAT1
 
sanders_11_ASD_discovery_controls-12029.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLCO1B1
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ST8SIA1
 
sanders_11_ASD_discovery_controls-12154.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12173.s1
 
 
  Paternal
  Simplex (quad)
  NA
  BCAT1
 
sanders_11_ASD_discovery_controls-12189.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ST8SIA1
 
sanders_11_ASD_discovery_controls-12317.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LMNTD1
 
sanders_11_ASD_discovery_controls-12447.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLCO1B1
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SLCO1A2
 
sanders_11_ASD_discovery_controls-13042.s1
 
 
  Maternal
  Simplex (quad)
  NA
  ABCC9
 
sanders_11_ASD_discovery_controls-13057.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LRMP
 

No Animal Model Data Available
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