2q11.2
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
316411Range
97739057-98115695Associated Human Genes
IL1R2, MAP4K4, NPAS2Associated Mouse Models
-Autism Reports
21Populations
29 (23 case / 6 control)Individuals
149 (92 case / 57 control)Summary
Summary statement in development
External Links
Reports related to 2q11.2 (21 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 2 | Minor | Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ , et al. (2011) |
| 3 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 4 | Minor | Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. | Chung BH , et al. (2011) |
| 5 | Major | An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... | Kaminsky EB , et al. (2011) |
| 6 | Minor | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 7 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 8 | Major | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 9 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 10 | Major | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 11 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 12 | Major | Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA , et al. (2013) |
| 13 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 14 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 15 | Minor | The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. | Al-Qattan SM , et al. (2014) |
| 16 | Minor | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 17 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 18 | Minor | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J , et al. (2016) |
| 19 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 20 | Minor | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 21 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
Show all Case Details
Show all Cohort Details
2q11.2
Description:
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
Diagnosis:
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
Al-Qattan SM , et al. (2014)Cohort Size: 584
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 294516
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia
2q11.2
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 7390
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
2q11.2
Description:
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
Diagnosis:
ASD (ADI-R and ADOS, Module 3)
Chung BH , et al. (2011)Cohort Size: 1
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 20878
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.2.1, Birdseed v.2
Algorithm: HMM
Geographical Ancestry: Scottish-Canadian
2q11.2
Description:
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2758
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
2q11.2
Description:
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
Diagnosis:
Intellectual disability, developmental delay, and/or ASD
Coe BP , et al. (2014)Cohort Size: 29085
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 950000
Deletion: 6
Duplication: 4
Total CNV: 10
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
2q11.2
Description:
Samples from the Autism Genome Project (AGP)
Diagnosis:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Engchuan W , et al. (2015)Cohort Size: 1892
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 2015254
Deletion: 4
Duplication: 13
Total CNV: 17
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
2q11.2
Description:
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
Diagnosis:
Developmental delay with or without congenital malformations
Girirajan S , et al. (2012)Cohort Size: 32587
Age Min: 40
Age Max: 40
Average: 40
Male: 100
Female: -
Unknown: -
CNV Size: 927965
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
2q11.2
Description:
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
Diagnosis:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Girirajan S , et al. (2013)Cohort Size: 2588
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 935911
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen 135K array)
Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA
2q11.2
Description:
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
Diagnosis:
Developmental delay
Girirajan S , et al. (2013)Cohort Size: 31518
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 935911
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
N/A
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA
2q11.2
Description:
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
Diagnosis:
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
Kaminsky EB , et al. (2011)Cohort Size: 15749
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1997995
Deletion: 3
Duplication: 8
Total CNV: 11
Discovery Method:
aCGH
Validation Method:
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA
2q11.2
Description:
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)
Diagnosis:
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
Krumm N , et al. (2013)Cohort Size: 411
Age Min: -
Age Max: -
Average: -
Male: 63
Female: 38
Unknown: -
CNV Size: 83099
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
Platform: 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)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
2q11.2
Description:
Probands from the Simons Simplex Collection
Diagnosis:
Diagnosis of ASD
Krumm N , et al. (2015)Cohort Size: 2377
Age Min: -
Age Max: -
Average: -
Male: 64
Female: 36
Unknown: -
CNV Size: 143385
Deletion: 1
Duplication: 5
Total CNV: 6
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A
2q11.2
Description:
Individuals predominantly recruited from the middle of Honshu Island (Japan)
Diagnosis:
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Kushima I , et al. (2018)Cohort Size: 2458
Age Min: 576
Age Max: 576
Average: 576
Male: 100
Female: -
Unknown: -
CNV Size: 1015583
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
2q11.2
Description:
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
Diagnosis:
ASD
Levy D , et al. (2011)Cohort Size: 858
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 90411
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
2q11.2
Description:
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
Diagnosis:
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
Pinto D , et al. (2010)Cohort Size: 996
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 293432
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European
2q11.2
Description:
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
Diagnosis:
Cases classified according to ADOS and ADI-R
Pinto D , et al. (2014)Cohort Size: 1359
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 84765
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, long-range PCR
Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European
2q11.2
Description:
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
Diagnosis:
Cases diagnosed with ASD
Poultney CS , et al. (2013)Cohort Size: 299
Age Min: -
Age Max: -
Average: -
Male: 80
Female: 20
Unknown: -
CNV Size: 122706
Deletion: 1
Duplication: 3
Total CNV: 4
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
2q11.2
Description:
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).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 50
Female: 50
Unknown: -
CNV Size: 780104
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
qPCR
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
2q11.2
Description:
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
Diagnosis:
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
Sajan SA , et al. (2013)Cohort Size: 487
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 201138
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
2q11.2
Description:
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
Diagnosis:
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)
Sanders SJ , et al. (2011)Cohort Size: 1124
Age Min: -
Age Max: -
Average: -
Male: 80
Female: 20
Unknown: -
CNV Size: 379342
Deletion: 13
Duplication: 5
Total CNV: 18
Discovery Method:
Solid phase hybridization
Validation Method:
-
Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
2q11.2
Description:
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
Diagnosis:
All cases fulfilled DSM-V criteria for autism
Soueid J , et al. (2016)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 129000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
2q11.2
Description:
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Diagnosis:
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Soueid J , et al. (2016)Cohort Size: 35
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
2q11.2
Description:
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
Diagnosis:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Yin CL , et al. (2016)Cohort Size: 335
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 50604
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Case Details
Show all Cohort Details
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG0055
Clinical Profile:
Coloboma, bilateral microphthalmia and microcornea, right facial nerve palsy, dysphagia, conductive hearing loss, hemivertebra, scoliosis, and bifid spine (CHARGE-like). Non-consanguineous parents.
Cognitive Profile:
-
Al-Qattan SM , et al. (2014)Primary Diagnosis: MCA
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 97065382
CNV End: 97285797
CNV Size: 220416
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
celestino-soper_11_ASD_discovery_cases-11098
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97513266
CNV End: 97516024
CNV Size: 2759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11399
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 101698006
CNV End: 101698472
CNV Size: 467
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
chung_11_ASD_discovery_cases-proband
Clinical Profile:
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
Cognitive Profile:
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
Chung BH , et al. (2011)Primary Diagnosis: ASD
Age: 12
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97524837
CNV End: 97545714
CNV Size: 20878
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case541
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case542
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case543
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case544
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case545
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case546
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case547
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case548
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case549
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
coe_14_ASD/DD/ID_discovery_cases-case550
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96060525
CNV End: 97010536
CNV Size: 950012
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
engchuan_15_ASD_discovery_cases-case14056_970
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case17009_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 101266584
CNV End: 101344441
CNV Size: 77858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SNORD89, MIR5696, CNOT11, RNF149
engchuan_15_ASD_discovery_cases-case20000_1010002
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case2288_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97861227
CNV End: 98070485
CNV Size: 209259
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-96P, TMEM131
engchuan_15_ASD_discovery_cases-case3309_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97200092
CNV End: 97659389
CNV Size: 459298
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, UBTFL6, COX5B, ACTR1B, ANKRD36, ANKRD36B
engchuan_15_ASD_discovery_cases-case3385_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97087398
CNV End: 97267355
CNV Size: 179958
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_cases-case3418_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99299884
CNV Size: 78145
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case3484_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97117673
CNV End: 97267355
CNV Size: 149683
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case3571_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case3616_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97489619
CNV End: 97658891
CNV Size: 169273
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
engchuan_15_ASD_discovery_cases-case4236_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 98377951
CNV End: 100393206
CNV Size: 2015256
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: COA5, YWHAQP5, RNU4-84P, RNU7-46P, C2orf15, CNGA3, UNC50, LIPT1, MITD1, MRPL30, LYG2, LYG1, TXNDC9, LINC01104, LONRF2, MGAT4A, KIAA1211L, TSGA10, EIF5B, REV1, CHST10, INPP4A, AFF3
engchuan_15_ASD_discovery_cases-case4548_1
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97085273
CNV End: 97499218
CNV Size: 413946
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B
engchuan_15_ASD_discovery_cases-case5000_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97068081
CNV End: 97267355
CNV Size: 199275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_cases-case5244_3
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_cases-case6312_4
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99300136
CNV Size: 78397
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case8451_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_cases-case8651_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97073320
CNV End: 97267355
CNV Size: 194036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
girirajan_12_ASD/DD/ID_discovery_cases-case51723
Clinical Profile:
Speech delay. Normal tone. Frontal lobe atrophy, hearing loss. Dysmorphic features: micrognathia, low-set ears, blepharophimosis. Congenital anomalies: cryptorchidism. Other features: strabismus, retinopathy, astigmatism. Growth parameters: weight 97th %ile, OFC 97th %ile. Family history: healthy parents.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 3 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96077682
CNV End: 97005658
CNV Size: 927977
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
girirajan_13a_ASD_discovery_cases-12550.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
girirajan_13a_ASD_discovery_cases-14043.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
girirajan_13a_DD_discovery_cases-DDcase100
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
girirajan_13a_DD_discovery_cases-DDcase99
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 96084424
CNV End: 97020346
CNV Size: 935923
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000835
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95879602
CNV End: 97029672
CNV Size: 1150071
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001088
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96100812
CNV End: 97267355
CNV Size: 1166544
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002200
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 101080018
CNV End: 101646523
CNV Size: 566506
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SNORD89, MIR5696, TBC1D8-AS1, CNOT11, RNF149, CREG2, LINC01870, TBC1D8, RFX8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002259
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95880668
CNV End: 97131646
CNV Size: 1250979
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002743
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 97634165
CNV End: 97841153
CNV Size: 206989
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, RNU4-8P, HMGN1P36, C2orf92, ZAP70, TMEM131
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002785
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95806265
CNV End: 97267355
CNV Size: 1461091
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, LINC00342, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004015
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95810453
CNV End: 97024341
CNV Size: 1213889
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, LINC00342, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004706
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95879602
CNV End: 97267355
CNV Size: 1387754
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005076
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 98787057
CNV End: 100785053
CNV Size: 1997997
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-46P, C2orf15, HMGN2P22, LINC01849, NANOGNBP1, LINC01868, LIPT1, MITD1, MRPL30, LYG2, LYG1, TXNDC9, LINC01104, LONRF2, NMS, PDCL3, KIAA1211L, TSGA10, EIF5B, REV1, CHST10, AFF3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005087
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 95916534
CNV End: 97024341
CNV Size: 1107808
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, GPAT2, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, ANKRD36C, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005242
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 96100612
CNV End: 97267355
CNV Size: 1166744
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, FAHD2B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C, ANKRD36
krumm_13_ASD_discovery_cases-case11045.p1
Clinical Profile:
ASD proband from SSC quad family 11045. SRS score of 60.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 79.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 101790719
CNV End: 101799643
CNV Size: 8925
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_cases-case11484.p1
Clinical Profile:
ASD proband from SSC quad family 11484. SRS score of 76.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 106.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97646086
CNV End: 97659477
CNV Size: 13392
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COX5B, ACTR1B
krumm_13_ASD_discovery_cases-case13507.p1
Clinical Profile:
ASD proband from SSC quad family 13507. SRS score of 46.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 101.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97576378
CNV End: 97659477
CNV Size: 83100
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
krumm_13_ASD_discovery_cases-case13795.p1
Clinical Profile:
ASD proband from SSC quad family 13795. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 34.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99284392
CNV End: 99292640
CNV Size: 8249
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11045.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 101790719
CNV End: 101799643
CNV Size: 8925
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11099.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97584943
CNV End: 97659003
CNV Size: 74061
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
krumm_15_ASD_discovery_cases-case11765.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_cases-case12853.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_cases-case13507.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97555059
CNV End: 97660646
CNV Size: 105588
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
krumm_15_ASD_discovery_cases-case13968.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 98093092
CNV End: 98236477
CNV Size: 143386
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ATP5F1BP1, VWA3B
levy_11_ASD_discovery_cases-11045.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 101759366
CNV End: 101812346
CNV Size: 52981
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
levy_11_ASD_discovery_cases-11765.p1
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99217230
CNV End: 99307640
CNV Size: 90411
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
pinto_10_ASD_discovery_cases-case5000_3
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 97068081
CNV End: 97267355
CNV Size: 199275
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
pinto_14_ASD_discovery_cases2-case20000_1010002
Clinical Profile:
Clinical profile: N/A.
Cognitive Profile:
Cognitive profile: N/A.
Pinto D , et al. (2014)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
poultney_13_ASD_discovery_cases-case00HI1465A
Clinical Profile:
ASD case from AGRE (AGRE ID AU032706; NDAR ID NDAR_INVTU259PHM)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 97084167
CNV End: 97118525
CNV Size: 34359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
poultney_13_ASD_discovery_cases-case04HI3272A
Clinical Profile:
ASD case from AGRE (AGRE ID AU1158302; NDAR ID NDAR_INVHN818LB9)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 97536300
CNV End: 97659005
CNV Size: 122706
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
poultney_13_ASD_discovery_cases-case98HI0098B
Clinical Profile:
ASD case from AGRE (AGRE ID AU015703; NDAR ID N/A)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 100566501
CNV End: 100576498
CNV Size: 9998
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_cases-case99HI1043A
Clinical Profile:
ASD case from AGRE (AGRE ID AU006305; NDAR ID NDAR_INVRH216ZC3)
Cognitive Profile:
-
Poultney CS , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 100566501
CNV End: 100576498
CNV Size: 9998
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: -
prasad_12_ASD_discovery_cases-case47173L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 99091635
CNV End: 99871738
CNV Size: 780104
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: MRPL30, LYG2, LIPT1, AFF3, MITD1, TXNDC9, TSGA10, C2orf15, REV1, EIF5B, LYG1
prasad_12_ASD_discovery_cases-case86605L
Clinical Profile:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
Cognitive Profile:
-
Prasad A , et al. (2013)Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 99109302
CNV End: 99165206
CNV Size: 55905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: TSGA10, C2orf15, MRPL30, MITD1, LIPT1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseDR08-020a1
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 97160375
CNV End: 97267355
CNV Size: 106981
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-125
Clinical Profile:
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: N/A.
Cognitive Profile:
Developmental delay: N/A. Intellectual disability: N/A.
Sajan SA , et al. (2013)Primary Diagnosis: ACC
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 98099401
CNV End: 98222904
CNV Size: 123504
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ATP5F1BP1, VWA3B
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR08-375
Clinical Profile:
Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
Cognitive Profile:
-
Sajan SA , et al. (2013)Primary Diagnosis: CBLH-PMG
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: Not tested by qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LYG2, LYG1
sanders_11_ASD_discovery_cases-11004.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
Sanders SJ , et al. (2011)Primary Diagnosis: ASD
Age: 15.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11111.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 97194096
CNV End: 97215530
CNV Size: 21435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11134.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 13.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 98957008
CNV End: 99216756
CNV Size: 259749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: C2orf15, LIPT1, MITD1, MRPL30, TSGA10
sanders_11_ASD_discovery_cases-11252.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97085273
CNV End: 97267355
CNV Size: 182083
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
sanders_11_ASD_discovery_cases-11258.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 96
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 14.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97215530
CNV Size: 21435
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11378.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 91; verbal IQ, 48
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11484.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 10.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97489619
CNV End: 97657198
CNV Size: 167580
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
sanders_11_ASD_discovery_cases-11526.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97194096
CNV End: 97227072
CNV Size: 32977
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11657.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 4.9
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 100179786
CNV End: 100213886
CNV Size: 34101
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11679.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 6.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 102045710
CNV End: 102054606
CNV Size: 8897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-11765.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 34; non-verbal IQ, 39; verbal IQ, 24
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 11.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: LYG2, LYG1
sanders_11_ASD_discovery_cases-11917.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97179363
CNV End: 97513270
CNV Size: 333908
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, ANKRD36, ANKRD36B
sanders_11_ASD_discovery_cases-11981.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Aspergers
Age: 6.6
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97861227
CNV End: 98070485
CNV Size: 209259
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU7-96P, TMEM131
sanders_11_ASD_discovery_cases-12158.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 5.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 97194096
CNV End: 97205577
CNV Size: 11482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-12785.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 97073320
CNV End: 97499231
CNV Size: 425912
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B
sanders_11_ASD_discovery_cases-12828.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (trio)
CNV Start: 97044562
CNV End: 97267355
CNV Size: 222794
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
sanders_11_ASD_discovery_cases-12853.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 94
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 9.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband matched)
CNV Start: 99221740
CNV End: 99271994
CNV Size: 50255
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_cases-13152.p1
Clinical Profile:
NA
Cognitive Profile:
Full-scale IQ, 77; non-verbal IQ, 79; verbal IQ, 78
Sanders SJ , et al. (2011)Primary Diagnosis: Autism
Age: 7.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad-proband unmatched)
CNV Start: 97348020
CNV End: 97359885
CNV Size: 11866
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband unmatched)
Genome Build: GRCh38
Gene Content: IGKV3OR2-5, IGKV1OR2-6
soueid_16_ASD_discovery_cases-caseSAI36
Clinical Profile:
Case fulfilled DSM-V criteria for autism; no other information available
Cognitive Profile:
-
Soueid J , et al. (2016)Primary Diagnosis: Autism
Age: N/A
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97307772
CNV End: 97422164
CNV Size: 114393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11
yin_16_ASD_discovery_cases-case74
Clinical Profile:
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
Cognitive Profile:
-
Yin CL , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 98639438
CNV End: 98690041
CNV Size: 50604
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
brandler_18_ASD_replication_cases-case2-1561-003
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99421919
CNV End: 99429308
CNV Size: 7390
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -
kushima_18_SCZ_discovery_cases-caseSCZ1051
Clinical Profile:
Behavioral/psychiatric evaluation: onset of schizophrenia at 16 years of age (core symptoms include delusions, hallucinations, agitated and violent behavior, negative symptoms). Brain imaging: hippocampal atrophy on brain CT. Family history: positive for intellectual disability (ID).
Cognitive Profile:
Intellectual disability (IQ < 70)
Kushima I , et al. (2018)Primary Diagnosis: Schizophrenia, ID
Age: 48 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Not simplex
CNV Start: 96063558
CNV End: 97079140
CNV Size: 1015583
Validation Description: While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Not simplex
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, RNA5SP101, IGKV2OR2-1, IGKV2OR2-2, IGKV1OR2-3, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, TRIM43CP, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
Show all Control Details
Show all Cohort Details
No control populations reported.
Show all Control Details
Show all Cohort Details
engchuan_15_ASD_discovery_controls-control110036015501_
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97087398
CNV End: 97585795
CNV Size: 498398
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B
engchuan_15_ASD_discovery_controls-controlB140638_1007853950
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97073320
CNV End: 97492322
CNV Size: 419003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlB253888_1007853986
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97489619
CNV End: 97659389
CNV Size: 169771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
engchuan_15_ASD_discovery_controls-controlB285779_1007874679
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlB347545_0067942603
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97051608
CNV End: 97267355
CNV Size: 215748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlB524961_1007872292
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97051608
CNV End: 97585795
CNV Size: 534188
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-3, GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B
engchuan_15_ASD_discovery_controls-controlB536568_1007854032
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97073320
CNV End: 97492322
CNV Size: 419003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlB613109_1007875803
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 100070024
CNV End: 100144847
CNV Size: 74824
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlB675310_1007874657
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_controls-controlB747096_1007854180
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99302092
CNV Size: 80353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_controls-controlB757128_1007874832
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97984887
CNV End: 98551240
CNV Size: 566354
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ATP5F1BP1, CNGA3, TMEM131, VWA3B, INPP4A
engchuan_15_ASD_discovery_controls-controlB809518_0057061032
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97085273
CNV End: 97492048
CNV Size: 406776
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97489619
CNV End: 97659389
CNV Size: 169771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
engchuan_15_ASD_discovery_controls-controlHABC_900250_900250
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97117673
CNV End: 97267355
CNV Size: 149683
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_controls-controlHABC_900943_900943
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97086560
CNV End: 97492322
CNV Size: 405763
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901132_901132
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97081697
CNV End: 97492322
CNV Size: 410626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901140_901140
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97081697
CNV End: 97492322
CNV Size: 410626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36
engchuan_15_ASD_discovery_controls-controlHABC_901223_901223
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99221740
CNV End: 99306504
CNV Size: 84765
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
engchuan_15_ASD_discovery_controls-controlHABC_901266_901266
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97085273
CNV End: 97267355
CNV Size: 182083
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
girirajan_13b_ASD_discovery_controls-10208109404
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 95693087
CNV End: 96071808
CNV Size: 378722
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL210P, FAHD2CP, GPAT2P1, GPAT2, LINC00342, ANKRD36C
girirajan_13b_ASD_discovery_controls-2105102564
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 96711139
CNV End: 96764130
CNV Size: 52992
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: CNNM4, LMAN2L
krumm_13_ASD_discovery_controls-control11484.s1
Clinical Profile:
Unaffected sibling from SSC quad family 11484. SRS score of 43.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97647066
CNV End: 97659477
CNV Size: 12412
Validation Description: aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: COX5B, ACTR1B
krumm_13_ASD_discovery_controls-control13166.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13166. SRS score of 39.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 98250317
CNV End: 98256174
CNV Size: 5858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_controls-control13507.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13507. SRS score of 37.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 97576378
CNV End: 97658316
CNV Size: 81939
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
krumm_13_ASD_discovery_controls-control13508.s1
Clinical Profile:
Unaffected sibling from SSC quad family 13508. SRS score of 41.
Cognitive Profile:
-
Krumm N , et al. (2013)Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_controls-control11765.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_controls-control12091.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97576378
CNV End: 97659003
CNV Size: 82626
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
krumm_15_ASD_discovery_controls-control12853.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_controls-control13508.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99242363
CNV End: 99295670
CNV Size: 53308
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: LYG2, LYG1
krumm_15_ASD_discovery_controls-control13531.s1
Clinical Profile:
Unaffected sibling from the Simons Simplex Collection (SSC)
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: Control
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97584943
CNV End: 97659477
CNV Size: 74535
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
levy_11_ASD_discovery_controls-11765.s1
Primary Diagnosis: Control
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 99217230
CNV End: 99307640
CNV Size: 90411
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LYG2, LYG1
poultney_13_ASD_discovery_controls-control04C28851A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97513180
CNV End: 97560860
CNV Size: 47681
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_controls-control04C31069A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97888052
CNV End: 98312351
CNV Size: 424300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-96P, ATP5F1BP1, TMEM131, VWA3B
poultney_13_ASD_discovery_controls-control04C32509B
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97083946
CNV End: 97118525
CNV Size: 34580
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
poultney_13_ASD_discovery_controls-control04C37424A
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97084167
CNV End: 97118525
CNV Size: 34359
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
poultney_13_ASD_discovery_controls-control05C38812A
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 98093091
CNV End: 98194494
CNV Size: 101404
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
poultney_13_ASD_discovery_controls-control05C44633
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97551452
CNV End: 97659005
CNV Size: 107554
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
sanders_11_ASD_discovery_controls-11032.s1
Primary Diagnosis: Control (matched sibling)
Age: 3.7
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97194096
CNV End: 97211854
CNV Size: 17759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11073.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97194096
CNV End: 97211854
CNV Size: 17759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11124.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.3
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 96006253
CNV End: 96035209
CNV Size: 28957
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: FAHD2CP, GPAT2
sanders_11_ASD_discovery_controls-11252.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97086560
CNV End: 97499231
CNV Size: 412672
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RN7SL313P, IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, FAHD2B, ANKRD36, ANKRD36B
sanders_11_ASD_discovery_controls-11330.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97073320
CNV End: 97267355
CNV Size: 194036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: GPAT2P2, RN7SL313P, FAHD2B, ANKRD36
sanders_11_ASD_discovery_controls-11512.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97227072
CNV Size: 109400
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11679.s1
Primary Diagnosis: Control (matched sibling)
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 102045710
CNV End: 102054606
CNV Size: 8897
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11765.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.8
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 99216756
CNV End: 99306504
CNV Size: 89749
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: LYG2, LYG1
sanders_11_ASD_discovery_controls-11917.s1
Primary Diagnosis: Control (matched sibling)
Age: 4.3
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97208827
CNV End: 97391818
CNV Size: 182991
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: NCBI36
Gene Content: -
sanders_11_ASD_discovery_controls-11948.s1
Primary Diagnosis: Control (matched sibling)
Age: 11.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97205577
CNV Size: 87905
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-11990.s1
Primary Diagnosis: Control (matched sibling)
Age: 13.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97117673
CNV End: 97194486
CNV Size: 76814
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
sanders_11_ASD_discovery_controls-12091.s1
Primary Diagnosis: Control (matched sibling)
Age: 7.2
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97489619
CNV End: 97658920
CNV Size: 169302
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: UBTFL6, COX5B, ACTR1B, ANKRD36B
sanders_11_ASD_discovery_controls-12701.s1
Primary Diagnosis: Control (matched sibling)
Age: 10.4
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97086560
CNV End: 97267355
CNV Size: 180796
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: RN7SL313P, FAHD2B, ANKRD36
sanders_11_ASD_discovery_controls-12851.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 97179363
CNV End: 97585795
CNV Size: 406433
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11, ANKRD36, ANKRD36B
sanders_11_ASD_discovery_controls-12851.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 96065361
CNV End: 96911924
CNV Size: 846564
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: ADRA2B, DUSP2, ITPRIPL1, MIR3127, ASTL, STARD7-AS1, TMEM127, CIAO1, SNRNP200, NEURL3, ARID5A, FER1L5, CNNM4, CNNM3-DT, CNNM3, ANKRD23, ANKRD39, FAM178B, STARD7, NCAPH, KANSL3, LMAN2L, SEMA4C
sanders_11_ASD_discovery_controls-12853.s1
Primary Diagnosis: Control (matched sibling)
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 99216756
CNV End: 99302081
CNV Size: 85326
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: LYG2, LYG1
sanders_11_ASD_discovery_controls-13166.s1
Primary Diagnosis: Control (matched sibling)
Age: 5.6
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex (quad)
CNV Start: 98245634
CNV End: 98270203
CNV Size: 24570
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad)
Genome Build: GRCh38
Gene Content: -
soueid_16_ASD_discovery_controls-control7
Primary Diagnosis: Control
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 97307772
CNV End: 97422164
CNV Size: 114393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: -
Family Profile: -
Genome Build: GRCh38
Gene Content: IGKV1OR2-9, IGKV2OR2-10, IGKV2OR2-7D, IGKV3OR2-5, IGKV1OR2-6, IGKV2OR2-7, IGKV2OR2-8, IGKV1OR2-11
brandler_18_ASD_discovery_controls-controlREACH000340
Primary Diagnosis: Control
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 96455564
CNV End: 96574776
CNV Size: 119213
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NEURL3, ARID5A
brandler_18_ASD_discovery_controls-controlSSC05183
Primary Diagnosis: Control
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 99342009
CNV End: 99348436
CNV Size: 6428
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -
Genes associated with 2q11.2(0 Models)
Sort By:
| IL1R2 | 4 / 8 | Rare Single Gene Mutation |
Score2 |
| MAP4K4 | 2 / 2 | Rare Single Gene Mutation, Syndromic |
Score2 |
| NPAS2 | 1 / 4 | Genetic Association |
Score2 |