Xq22.2CNV Type: Deletion-Duplication
Largest CNV size: 165671 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with 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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
124799
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
219680
0
2
2
hijazi_22_ASD/DD/ID_discovery_cases
Unrelated females with de novo Xq22.2 deletions affecting the TCEAL1 gene from an initial cohort of 7 unrelated families with de novo variants involving TCEAL1.
2
Both individuals presented with developmental delay (DD) and intellectual disability (ID); one case was diagnosed with autism, while the other case presented with autistic features and stereotypy.
Range, 9-17 yrs.
100.0% Female
154474
2
0
2
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
82046
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
76369
0
31
31
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
10132
1
0
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
26487
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
67000
0
2
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
42000
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
26487
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
50144
0
1
1
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
58375
0
4
4
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
165671
1
13
14
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
320000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
408768
0
21
21
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)
50144
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.
152207
2
17
19
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
hijazi_22_ASD/DD/ID_discovery_cases
One case of Algerian descent from France, the other of European and Chinese descent from the United States.
CMA, array SNP, WGS
CMA v.11.2 (Baylor Genetics), Illumina OmniExpress 700K
NA
NA
High-density aCGH, junction PCR, Sanger
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
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
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
4 yrs.
M
ASD, developmental delay, learning disabilities, and epilepsy/seizures
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 35th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Brain imaging: delayed myelination. Family history: phenotypically normal mother.
Learning disabilities
103924589
104049400
124812
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14211_3380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
103878178
104086692
208515
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3619_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
104177843
104397523
219681
GRCh38
Duplication
No
hijazi_22_ASD/DD/ID_discovery_cases-case5
17 yrs.
F
ASD, developmental delay, and intellectual disability
Birth/neonatal history: postnatal hyperbilirubinemia. Developmental milestones: developmental delay with delayed ability to crawl (13 months), delayed ability to walk (22 months), and speech delay (single words, short sentences); developmental regression at 11 years of age following a febrile illness. Motor and musculoskeletal evaluation: slender fingers, clinodactyly of the 4th and 5th toes, hallux valgus, narrow hands, mild shortening of the lateral toes; unsteady gait. Behavioral/psychiatric evaluation: staring spells of uncertain significance, intrusive thoughts, mood swings at 11 years of age, fatigue, a diagnosis of autism at 7 years of age (after having previously been diagnosed with PDD-NOS), persistent auditory hallucinations, vocal and motor tics in childhood, obsessive-compulsive behavior (compulsive scribbling with pen on paper). Brain imaging: abnormal myelination for her age (unclear if a result of hypomyelination or demyelination due to unavailability of serial imaging). Additional medical history: slight astigmatism, recurrent infections, oral allergy syndrome, hypertriglyceridemia, microcytic anemia. Dysmorphic features: epicanthus, slight overbite, a single cafe-au-lait spot on her back. Growth parameters: macrocephaly (head circumference +2.24 SD). Family history: patient was of European and Chinese ancestry, her younger sister is reportedly in good health, and family history was negative for close relatives with psychiatric disease or developmental disorders.
Mild-to-moderate intellectual disability
103624397
103638384
13988
GRCh38
Deletion
Yes
hijazi_22_ASD/DD/ID_discovery_cases-case6
9 yrs.
F
Developmental delay, intellectual disability, autistic features, and stereotypy
Birth/neonatal history: large for gestational age (birth weight 92nd %ile). Developmental milestones: developmental delay with delayed ability to sit (12 months), delayed ability to walk (19 months), and speech delay (first words at 4 years). Motor and musculoskeletal evaluation: hypotonia (neonatal axial hypotonia); bilateral genu valgum, congenital brachymetatarsia involving the fourth metatarsal bone in the right foot. Behavioral/psychiatric evaluation: poor eye contact, primary motor stereotypies, episodes of screaming, laughing, aggressiveness, and irritability, anxiety, mood swings, sleep disturbance, self-injurious behavior, autistic features (disturbances in social interactions; no diagnosis due to severe ID). Additional medical history: strabismus, astigmatism, regurgitation. Dysmorphic features: frontal bossing, epicanthus, hypertelorism, abnormal eyebrow morphology (horizontal eyebrows), fleshy earlobes, deep-set eyes, diastema, broad forehead. Growth parameters: tall stature (height +2.5 SD), obesity (weight >+5.0 SD; BMI 40), macrocephaly (head circumference +2.5 SD). Family history: fourth child of healthy non-consanguineous parents of Algerian descent.
Severe intellectual disability
103519821
103674294
154474
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004033
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
103630251
103712297
82047
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11004.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11129.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11190.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11218.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11325.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11333.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11689.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11869.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11948.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12058.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12295.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12377.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12381.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12788.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12910.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12923.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12975.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13012.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13035.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13038.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13120.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13234.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13297.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13498.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13508.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13510.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13516.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13552.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13710.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13797.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
103965507
104040898
75392
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case5
4 yrs.
M
Developmental delay
Developmental delay
103767577
103777709
10133
GRCh38
Deletion
No
lintas_17_ASD_discovery_cases-case6.2
N/A
M
Asperger syndrome
No additional clinical information available
104007004
104033500
26497
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown237
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)
103965839
104033500
67662
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown238
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)
103965839
104033500
67662
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam943Proband10737
N/A
F
ASD
Additional clinical profile info N/A
No ID
104007013
104049400
42388
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
N/A
F
Intellectual disability and ADHD
Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
Mild intellectual disability (Leiter-R IQ score of 60)
104007004
104033500
26497
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5368_3
NA
M
ASD
NA
NA
103065826
103222056
156231
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case115745L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
103223894
103274037
50144
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
104006383
104064774
58392
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
104006383
104064774
58392
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
104006383
104064774
58392
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
104023079
104064774
41696
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
103915134
104090716
175583
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11207.p1
14.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
104004450
104064774
60325
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11266.p1
4.3
F
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
103426259
103561185
134927
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
103924589
104051600
127012
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
104004609
104051600
46992
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
104004609
104049400
44792
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
103552254
103562530
10277
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12748.p1
6.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
103995744
104064774
69031
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12923.p1
4.4
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
104004609
104064774
60166
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
103978792
104061963
83172
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12975.p1
10.4
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
103988453
104064774
76322
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
104004609
104051600
46992
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13150.p1
8.1
F
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
104004609
104056370
51762
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13168.p1
7.9
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
104004609
104050707
46099
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case66
M
DD/ID
Severe features of Pelizaeus-Merzbacher syndrome
103499807
103820412
320606
GRCh38
Duplication
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
krumm_15_ASD_discovery_controls-control11004.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11037.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
103964523
104040898
76376
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11301.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11309.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11325.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11348.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11397.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11437.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11445.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11768.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104250227
104658995
408769
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11909.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040404
27236
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11959.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12029.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12840.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12923.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13036.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
103964522
104105257
140736
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13104.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13234.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13456.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13552.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
104013169
104040898
27730
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13710.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
103964523
104040898
76376
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11004.s1
10.3
M
Control (matched sibling)
NA
NA
103995744
104064774
69031
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
103924589
104050707
126119
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
104004450
104050707
46258
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11093.s1
9.8
M
Control (matched sibling)
NA
NA
103995744
104054732
58989
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11120.s1
11.3
F
Control (matched sibling)
NA
NA
103554243
103562530
8288
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11266.s1
5.8
F
Control (matched sibling)
NA
NA
103424699
103554243
129545
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
104004450
104050707
46258
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11309.s1
13.6
F
Control (matched sibling)
NA
NA
104004450
104050707
46258
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
104004609
104051600
46992
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11325.s1
12.3
M
Control (matched sibling)
NA
NA
103978792
104064774
85983
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11436.s1
6.5
F
Control (matched sibling)
NA
NA
104004450
104054732
50283
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
103924589
104054732
130144
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
103924589
103968956
44368
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12923.s1
5.8
M
Control (matched sibling)
NA
NA
103988453
104064774
76322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
103552254
103562530
10277
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13006.s1
7.5
F
Control (matched sibling)
NA
NA
104004609
104051600
46992
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
104004609
104056370
51762
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13036.s1
10.2
F
Control (matched sibling)
NA
NA
103924589
104086692
162104
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
104004609
104049400
44792
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
Unknown
Unknown
DPPA3P1,H2BFWT,H2BFM
engchuan_15_ASD_discovery_cases-case14211_3380
Unknown
TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,TMSB15B
engchuan_15_ASD_discovery_cases-case3619_3
Unknown
FAM199X,ESX1
hijazi_22_ASD/DD/ID_discovery_cases-case5
High-density aCGH (Agilent), junction PCR, Sanger
De novo
Simplex
Segregated
TCEAL3,TCEAL3-AS1,TCEAL1
hijazi_22_ASD/DD/ID_discovery_cases-case6
Junction PCR
De novo
Simplex
Segregated
TCEAL4,TCEAL3,CNEP1R1P1,TCEAL3-AS1,TCEAL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004033
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MORF4L2-AS1,TMEM31,TCEAL1,GLRA4,MORF4L2
krumm_15_ASD_discovery_cases-case11004.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11129.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11190.p1
Illumina 1M
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11218.p1
Illumina 1M
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11325.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11333.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11689.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11869.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case11948.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12058.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12295.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12377.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12381.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12407.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12788.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12910.p1
1M-Duov3
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12923.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case12975.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13012.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13035.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13038.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13120.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13234.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13297.p1
1M-Duov3
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13498.p1
1M-Duov3
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13508.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13510.p1
1M-Duov3
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13516.p1
1M-Duov3
Maternal
Simplex
Segregated
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13552.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13710.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
H2BFWT,H2BFM
krumm_15_ASD_discovery_cases-case13797.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
H2BFWT,H2BFM
lee_17_ASD/DD/ID/MCA_discovery_cases-case5
Unknown
PLP1
lintas_17_ASD_discovery_cases-case6.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
H2BFWT
maini_18_ASD/DD/ID_discovery_cases-case_unknown237
Maternal
Unknown
Unknown
H2BFWT
maini_18_ASD/DD/ID_discovery_cases-case_unknown238
Maternal
Unknown
Unknown
H2BFWT
nava_13_ASD_discovery_cases-Fam943Proband10737
Unknown
Simplex
Unknown
H2BFWT,H2BFM
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
Paternal
Multi-generational
Unknown
H2BFWT
pinto_10_ASD_discovery_cases-case5368_3
Agilent1M
maternal
NA
NA
H2BFWT,H2BFXP,TMSB15B,MCART6
prasad_12_ASD_discovery_cases-case115745L
Unknown
Unknown
Unknown
MCART6,ZCCHC18
sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
Not tested by qPCR
Unknown
Unknown
Unknown
H2BFWT,H2BFM,TMSB15B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
Not tested by qPCR
Unknown
Unknown
Unknown
H2BFWT,H2BFM,TMSB15B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
Not tested by qPCR
Unknown
Unknown
Unknown
H2BFWT,H2BFM,TMSB15B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
Not tested by qPCR
Unknown
Unknown
Unknown
H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-11190.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-11207.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-11266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RAB40A
sanders_11_ASD_discovery_cases-11948.p1
Unknown
Simplex (quad-proband matched)
Not segregated
DPPA3P1,H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-12072.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-12375.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12748.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-12923.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-12962.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-12975.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_cases-13035.p1
Maternal
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-13150.p1
Paternal
Simplex (trio)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_cases-13168.p1
Unknown
Simplex (quad-proband matched)
Not segregated
H2BFWT,H2BFM
tzetis_12_DD/ID_discovery_cases-case66
Maternal
Unknown
TCEAL3-AS1,MORF4L2-AS1,TMEM31,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,MORF4L2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control11004.s1
Illumina 1M
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11037.s1
Illumina 1M
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11301.s1
Illumina 1M
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11309.s1
Illumina 1M
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11325.s1
Illumina 1M
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11348.s1
Illumina 1M
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11397.s1
Illumina 1M
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11437.s1
Illumina 1M
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11445.s1
Illumina 1M
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11768.s1
Illumina 1MDuo
Maternal
PHBP10,ESX1,IL1RAPL2
krumm_15_ASD_discovery_controls-control11909.s1
Illumina 1MDuo
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control11959.s1
Illumina 1MDuo
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control12029.s1
Illumina 1MDuo
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control12840.s1
1M-Duov3
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control12923.s1
Illumina 1MDuo
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control13036.s1
Illumina 1MDuo
Paternal
H2BFWT,H2BFM,SLC25A53,TMSB15B
krumm_15_ASD_discovery_controls-control13104.s1
Illumina 1MDuo
Paternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control13234.s1
1M-Duov3
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control13456.s1
1M-Duov3
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control13552.s1
1M-Duov3
Maternal
H2BFWT,H2BFM
krumm_15_ASD_discovery_controls-control13710.s1
Omni2.5-4v1
Maternal
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11004.s1
Unknown
Simplex (quad)
NA
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_controls-11037.s1
Paternal
Simplex (quad)
NA
DPPA3P1,H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11051.s1
Paternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11093.s1
Unknown
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11120.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11266.s1
Paternal
Simplex (quad)
NA
RAB40A
sanders_11_ASD_discovery_controls-11301.s1
Paternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11309.s1
Maternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11321.s1
Paternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11325.s1
Unknown
Simplex (quad)
NA
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_controls-11436.s1
Maternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
DPPA3P1,H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-11828.s1
Maternal
Simplex (quad)
NA
DPPA3P1
sanders_11_ASD_discovery_controls-12923.s1
Unknown
Simplex (quad)
NA
H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_controls-13001.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13006.s1
Paternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-13012.s1
Maternal
Simplex (quad)
NA
H2BFWT,H2BFM
sanders_11_ASD_discovery_controls-13036.s1
Paternal
Simplex (quad)
NA
DPPA3P1,H2BFWT,H2BFM,TMSB15B
sanders_11_ASD_discovery_controls-13168.s1
Paternal
Simplex (quad)
NA
H2BFWT,H2BFM
No Animal Model Data Available