14q12CNV Type: Deletion-Duplication
Largest CNV size: 2594000 bp
Statistics Box:
Number of Reports: 22
Number of Reports: 22
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Deletion
Contribution of SHANK3 mutations to autism spectrum disorder.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
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.
99
ASD
87.88% Male
233
0
1
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
317157
1
0
1
ellaway_12_DD/ID_discovery_cases
Three patients referred for aCGH analysis at Cytogenetics Dept. at the Children's Hospital at Westhead (Sydney, Australia) for atypical Rett syndrome.
3
Atypical Rett syndrome. Severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia in all 3 cases; seizure disorder, agenesis of corpus callosum and subtle dysmorphism in 2 female cases.
Range, 4-16 yrs.
33.3% Male
1170000
3
0
3
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1559598
12
6
18
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
156946
1
0
1
jacob_09_Rett_discovery_cases
3 yr old female diagnosed with a variant form of Rett syndrome
1
Rett syndrome
3
Female
2594000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
937054
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
303058
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
66000
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
130000
1
0
1
moessner_07_ASD_discovery_cases
Unrelated subjects recruited from Hospital for Sick Children, Toronto (225), and child diagnostic centers in Hamilton (100) and Newfoundland (75). 62% multiplex, 38% simplex. Possible sample overlap with Marshall et al., 2008 CNV report.
400
ASD
34200
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
26449
0
1
1
nakamine_08_ASD_discovery_cases
Autistic male proband ascertained during the course of a genetic study of autism in the Central Valley of Costa Rica
1
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2.
10 yrs. 3 mos.
Male
12300
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
56159
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
98414
1
1
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
31439
0
5
5
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
94113
2
1
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
119502
13
6
19
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
25001
2
0
2
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
753000
0
1
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
201000
1
1
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
3400000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
4919
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
248754
8
6
14
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
256225
1
1
2
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
61452
1
0
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
94113
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
372989
8
5
13
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
ellaway_12_DD/ID_discovery_cases
Australia
aCGH
Agilent SurePrint G3 Human 400K
ADM-2
Genomic Workbench 5.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
jacob_09_Rett_discovery_cases
aCGH
105K CMA OLIGO V7.2
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
moessner_07_ASD_discovery_cases
Array SNP
Affymetrix 500K
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
nakamine_08_ASD_discovery_cases
Costa Rican
Array SNP
Affymetrix 500K (NspI and StyI)
HMM
dChip 2006
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11168
NA
M
ASD
NA
NA
31178021
31178254
234
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case791
F
ASD, developmental delay, and seizures
ASD, developmental delay, facial dysmorphism, congenital anomalies and seizures.
Specific learning disability.
28728035
29045191
317157
GRCh38
Deletion
No
ellaway_12_DD/ID_discovery_cases-patient1
16 yrs.
F
Atypical Rett sydnrome
Patient died at age of 16 years from acute respiratory illness complicating a slow deterioration in general health. Birth/neonatal history: normal pregnancy; 42 weeks gestation; postnatal microcephaly (birth head circumference 8th %ile). Developmental milestones: delayed early development (rolled at 4 months, but unable to sit without support until ~1 year of age). Language and communication evaluation: no speech. Motor and musculoskeletal evaluation: profound psychomotor retardation; truncal hypotonia; mild limb hypertonia and brisk deep tendon reflexes; no ability to walk; scoliosis; poor use of hands. Behavioral and psychiatric evaluation: stereotypic movements (hand grasping, wringing, mouthing). Epilepsy/seizures: yes (infantile spasms; onset at 1 year of age). Brain imaging: agenesis of corpus callosum and relatively small brain size observed on brain MRI. Sleep disturbances: yes. Other features: feeding difficulties; bruxism; cold extremities; protruding tongue; constipation; hyperventilation. Dysmorphic features: oval-shaped face, depressed nasal bridge, anteverted nares, full everted lower lip, limited facial expression, relatively long fingers & toes, left 2nd toe clinodactyly, shortening of 4th and 5th metatarsals. Growth parameters (at 7 years 8 months of age): weight <3rd %ile; head circumference <<1st %ile. Family history: second child of non-consanguineous parents.
Early-onset developmental delay, severe intellectual impairment
29226052
30403168
1177117
GRCh38
Deletion
No
ellaway_12_DD/ID_discovery_cases-patient2
12 yrs.
F
Atypical Rett sydnrome
Birth/neonatal history: normal pregnancy; 36 weeks gestation; postnatal microcephaly (birth head circumference 1st %ile). Developmental milestones: significantly delayed early development (smiled at 2 months, rolled at 14 months, sat unsupported in 2nd year). Language and communication evaluation: no speech. Motor and musculoskeletal evaluation: profound psychomotor retardation; truncal hypotonia; limb hypertonia; brisk deep tendon reflexes; no ability to walk; poor use of hands. Behavioral and psychiatric evaluation: stereotypic movements (hand wringing, mouthing); happy disposition; easily startled by noise, movement, or light stimulation. Epilepsy/seizures: yes (onset at 11 years of age). EEG: occasional centro-parietal epileptiform activity on slow background. Brain imaging: agenesis of corpus callosum and prominent ventricles observed on brain MRI. Sleep disturbances: yes. Other features: feeding difficulties; bruxism; cold extremities; protruding tongue; constipation; episodes of deep breathing. Dysmorphic features: long and slightly upturned palpebral fissures, short upturned nose, cupped ears with simple thickened helices, open mouth. Growth parameters (at 11 years 9 months of age): weight 40th %ile, height 20th %ile, head circumference <1st %ile.
Early-onset developmental delay, severe intellectual impairment
28868223
30018792
1150570
GRCh38
Deletion
No
ellaway_12_DD/ID_discovery_cases-patient3
4 yrs.
M
Atypical Rett sydnrome
Birth/neonatal history: 40 weeks gestation, born by C-section; postnatal microcephaly (birth head circumference 14th %ile); required post-natal surgey for pelvi-ureteric junction obstruction. Developmental milestones: delayed early development (delay in fine and gross motor milestones, good social development). Language and communication evaluation: single words, no longer used. Motor and musculoskeletal evaluation: severe psychomotor retardation; hypotonia; poor use of hands; increased muscle tone in all limbs; brisk deep tendon reflexes in lower limbs; no ability to walk. Behavioral and psychiatric evaluation: stereotypic movements (hand grasping, tapping, mouthing). Epilepsy/seizures: none. Brain imaging: normal brain MRI. Sleep disturbances: yes. Other features: feeding difficulties; bruxism; cold extremities; protruding tongue; constipation. Dysmorphic features: epicanthal folds. Family history: second child to non-consanguineous parents.
Early-onset developmental delay; severe developmental delay by 4 years of age.
28960335
29847513
887179
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13052_623
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27478586
27554600
76015
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13072_853
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27545976
27583966
37991
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14002_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27588859
27685820
96962
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14103_1780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27993073
28049942
56870
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14255_3780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26893735
26985012
91278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14314_4310
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27588859
27679213
90355
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18168_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26728073
26765748
37676
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2072_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27993073
28049942
56870
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3432_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27146372
28706059
1559688
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4218_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27176492
27296985
120494
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4421_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28701768
28743894
42127
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4534_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31256505
31302726
46222
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28452386
28550799
98414
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5218_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26636864
26673057
36194
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6278_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26185124
26220777
35654
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8662_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
24446177
24523413
77237
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8668_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32182590
32421332
238743
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8709_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
26981499
27275806
294308
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case32
9 yrs. 10 mos.
F
Autism and intellectual disability
Autism, multiple hematomas, teeth anomalies. Karyotype: 1phqh, 9phqh.
Intellectual disability
23105978
23262924
156947
GRCh38
Deletion
No
jacob_09_Rett_discovery_cases-case1
3
F
Rett syndrome
Diagnosed with variant Rett syndrome. Psychomotor retardation, seizures, no postnatal growth retardation; normal brain MRI, microcephaly; hypotonia, no scoliosis; no postnatal regression; stereotypic facial and limb movements; weight 25th centile, height 50th tile; low ears, mild synophrys, depressed nasal bridge & bulbous nasal tip, thin lips, pointed chin, protruding tongue; gastroesphageal felux, bruxism, scialorrhea.
Mental retardation
26323511
28917989
2594000
Unknown
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004304
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27798530
28735673
937144
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3021
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
29006754
29309811
303058
Unknown
Duplication
No
lesca_12_EP_discovery_cases-caseEB99
NA
F
Epilepsy + autistic features
Phenotype: i-CSWSS. Seizure Characteristics: FS, absences. Autistic features: Yes. ADHD features: No. Other features: None.
Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 76, performance IQ 80 (at 6 years of age).
25989508
26055508
66001
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown30
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
26969402
27100278
130877
GRCh38
Deletion
No
moessner_07_ASD_discovery_cases-case3
NA
M
ASD
Nonverbal speech,profound social impairment, restricted/repetitive behaviors, mild self-injurious behavior
NA
27997352
28031550
34199
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case124706
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
29906018
29932466
26449
GRCh38
Duplication
No
nakamine_08_ASD_discovery_cases-case1
10 yrs. 3 mos.
M
Autism
Diagnosis of autism based on meeting full criteria on ADI-R and ADOS module 2. ADI-R evaluation: qualitative impairment of reciprocal social interaction score, 29; impairment of communication score, 21; repetitive behaviors & stereotyped patterns score, 6; abnormal development evident before 36 months score, 5. ADOS module 2 evaluation: communication total score, 7; social total score, 11; communication + social score, 18; imagination/creativity score, 2; restricted interests/repetitive behavior score, 3 (classification of autism). Birth/neonatal history: pregnancy complicated by urinary tract infection in 1st trimester, premature ruptures of membranes at 5 months, hyperemesis throughout pregnancy; delivered at full term by spontaneous vaginal delivery without reported complications; Apgar scores 8-8; exhibition of hypotonia, weak suction, and deglution problems at birth; height, weight, and head circumference within normal limits. Developmental milestones: delayed acquisition of motor skills before 6 months of age; held head up at 2 months, displayed social smile at 3 months, independently sat at 9 months, crawled at 12 months, stood up at 14 months, walked at 24 months, ran at 30 months; spoke first words shortly before 26 months, emergence of phrase speech at 84 months; attained vesicourethral sphincter control at 60 months of age, no fecal sphincter control. Motor skills/musculoskeletal characteristics: delayed acquisition of motor skills; problems with equilibrium and balance; motor clumsiness; slight muscular hypotonia; no gait ataxia; Behavioral characteristics: autistic behaviors (hand flapping, immediate and delayed echolalia, use of other persons' bodies to communicate intentions), constant smiling, passive, exhibits little social interest, not aggressive, no self-injurious behaviors, no attention deficits or hyperactivity. Vineland Adaptive Behavioral Scales: communication skills score, 32; daily living skills score, <20; social skills score, 49; adaptive behavior composite score, 31. Sleep disturbances: none. Epilepsy/seizures: none. EEG: normal. Other health concerns: inguinal hernia repaired at 6 yrs. 9 mos., continuing sinus problems. Dysmorphic features: narrow palpebral fissures, protruding ears, somewhat long fingers, bilateral palmar transverse creases; malocclusion with mild protrusion of superior maxilla, multiple dental caries. Growth parameters: height, 133 cm (6th %ile); weight, 27 kg (4th %ile). Family history: mother had difficulties with language acquisition and problems with stuttering; three healthy siblings; two maternal first cousins with unspecified learning problems.
Letier full-scale IQ score of 36
27011154
27023454
12301
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-255-1
ASD
27532167
27588325
56159
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5211_3
NA
F
ASD
NA
NA
28452386
28550799
98414
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5218_3
NA
M
ASD
NA
NA
26636864
26673057
36194
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0671A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU033403; NDAR ID NDAR_INVFP134WLL)
512656
516777
4122
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
510853
542291
31439
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
441865
447220
5356
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0868A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
441865
447561
5697
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0868A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
510853
516935
6083
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case88062L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
27987107
28081219
94113
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case90193
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
30592936
30603241
10306
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case95578
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
26174335
26207356
33022
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
26636864
26673057
36194
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
27495393
27500488
5096
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11630.p1
10.6
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 106
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
28731314
28742309
10996
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11841.p1
10.4
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
602909
616683
13775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11910.p1
5.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 113
26129007
26131091
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11954.p1
5.3
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
27765828
27838876
73049
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
602909
616683
13775
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
31893653
31906153
12501
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
29938148
30013923
75776
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
26636864
26659489
22626
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12441.p1
13.7
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 18
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12454.p1
5.5
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 62
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
26620276
26673057
52782
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12837.p1
4.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
27626617
27746119
119503
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12865.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
28446605
28550799
104195
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13033.p1
4.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
28126219
28212010
85792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13085.p1
14.8
M
ASD
NA
Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
28202237
28203269
1033
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-1210
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion did not segregate with ASD in this family.
28006560
28031560
25001
GRCh38
Deletion
Yes
shin_15_ASD/DD/ID_discovery_cases-case26
3 yrs.
M
ASD, DD and ID
ASD, developmental delay, and intellectual disability
Intellectual disability
25060780
25813602
752823
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseCLIN22
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
31173336
31309165
135830
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseLAS17
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
27067939
27268585
200647
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case5
N/A
N/A
Intellectual disability
Primary diagnosis of intellectual disability based on IQ scores.
Intellectual disability
25949031
29344390
3395360
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC09891
N/A
M
Control
Control from SSC_phase1 cohort
32728584
32733503
4920
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036010742_
N/A
N/A
Control
No previous psychiatric history
27066228
27127724
61497
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017135_
N/A
N/A
Control
No previous psychiatric history
27000253
27092204
91952
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
N/A
N/A
Control
No previous psychiatric history
24446177
24536379
90203
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB225642_1007841224
N/A
N/A
Control
No previous psychiatric history
28461106
28530301
69196
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB448294_1007870354
N/A
N/A
Control
No previous psychiatric history
24472779
24523413
50635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB549593_1007875496
N/A
N/A
Control
No previous psychiatric history
28452386
28550799
98414
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
N/A
N/A
Control
No previous psychiatric history
26636864
26765748
128885
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB876806_1007852537
N/A
N/A
Control
No previous psychiatric history
27139520
27221133
81614
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
N/A
N/A
Control
No previous psychiatric history
27993073
28049942
56870
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
N/A
N/A
Control
No previous psychiatric history
27626617
27765828
139212
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
N/A
N/A
Control
No previous psychiatric history
26944978
26981857
36880
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
N/A
N/A
Control
No previous psychiatric history
27099684
27166076
66393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
N/A
N/A
Control
No previous psychiatric history
27279848
27528602
248755
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
N/A
N/A
Control
No previous psychiatric history
26959879
27018942
59064
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-12375.s1
NA
F
Control
NA
NA
31674416
31804144
129729
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12375.s1
NA
F
Control
NA
NA
31398054
31654278
256225
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C26524
Control
26662250
26723701
61452
Unknown
Deletion
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
27815104
28188182
373079
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
27765828
27838876
73049
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
28445464
28479567
34104
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
28202237
28203269
1033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12345.s1
12.9
F
Control (matched sibling)
NA
NA
29944581
30020623
76043
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
31686167
31803807
117641
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
31403832
31658331
254500
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12441.s1
10.6
F
Control (matched sibling)
NA
NA
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12837.s1
6.5
F
Control (matched sibling)
NA
NA
27626617
27746119
119503
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
27012963
27018942
5980
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
28202237
28203269
1033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
27595806
27611592
15787
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11168
Unknown
Simplex
NA
HECTD1
chaves_24_ASD/DD/ID_discovery_cases-case791
Unknown
FOXG1,LINC01551,LINC02327,FOXG1-AS1,LINC02326,LINC02282,LINC02281,RNU6-864P
ellaway_12_DD/ID_discovery_cases-patient1
De novo
Simplex
Likely segregated
RNU11-5P,RNU6-1234P,PRKD1
No change in FOXG1 or PKRD1 expression between patient and controls (using LCL)
ellaway_12_DD/ID_discovery_cases-patient2
De novo
Unknown
Possibly segregated
RNU6-864P,RNU11-5P,RNU6-1234P,LINC02327,LINC02326,PRKD1
Decreased FOXG1 and PRKD1 expression in whole-blood samples (compared to controls)
ellaway_12_DD/ID_discovery_cases-patient3
De novo
Simplex
Likely segregated
RNU6-864P,RNU11-5P,RNU6-1234P,LINC02327,LINC02326,PRKD1
Decreased FOXG1 and PRKD1 expression in whole-blood samples (compared to controls)
engchuan_15_ASD_discovery_cases-case13052_623
Unknown
engchuan_15_ASD_discovery_cases-case13072_853
Unknown
engchuan_15_ASD_discovery_cases-case14002_100
Unknown
MIR3171,LINC00645
engchuan_15_ASD_discovery_cases-case14103_1780
Unknown
engchuan_15_ASD_discovery_cases-case14255_3780
Unknown
MIR4307,MIR4307HG
engchuan_15_ASD_discovery_cases-case14314_4310
Unknown
MIR3171,LINC00645
engchuan_15_ASD_discovery_cases-case18168_302
Unknown
LINC02588
engchuan_15_ASD_discovery_cases-case2072_1
Unknown
engchuan_15_ASD_discovery_cases-case3432_3
Unknown
MIR3171,BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,LINC00645,LINC02300
engchuan_15_ASD_discovery_cases-case4218_1
Unknown
engchuan_15_ASD_discovery_cases-case4421_1
Unknown
FOXG1-AS1
engchuan_15_ASD_discovery_cases-case4534_1
Unknown
HEATR5A
engchuan_15_ASD_discovery_cases-case5211_3
Unknown
RPL26P3
engchuan_15_ASD_discovery_cases-case5218_3
Unknown
LINC02588
engchuan_15_ASD_discovery_cases-case6278_3
Unknown
CYB5AP5
engchuan_15_ASD_discovery_cases-case8662_201
Unknown
CMA1
engchuan_15_ASD_discovery_cases-case8668_201
Unknown
RNU6-7,RNU6-8,AKAP6
engchuan_15_ASD_discovery_cases-case8709_201
Unknown
iourov_12_ASD/ID/EP_discovery_cases-case32
Unknown
Unknown
Unknown
RNU6-1138P,RNU6-1046P,CEBPE,SLC7A8,RNF212B
jacob_09_Rett_discovery_cases-case1
FISH
Unknown (possible de novo)
NA
NA
FOXG1, C14orf23
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004304
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,LINC02300,FOXG1-AS1
kanduri_15_ASD_discovery_cases-case3021
Paternal
Unknown
Unknown
FOXG1
lesca_12_EP_discovery_cases-caseEB99
Unknown
Unknown
Unknown
LINC02306
maini_18_ASD/DD/ID_discovery_cases-case_unknown30
Paternal
Unknown
Unknown
moessner_07_ASD_discovery_cases-case3
Maternal
Multiplex
NA
mosca_16_DCD_discovery_cases-case124706
Unknown
Unknown
Unknown
PRKD1
nakamine_08_ASD_discovery_cases-case1
Unknown
Simplex
Unknown
nord_11_ASD_discovery_cases-255-1
Paternal
0 genes
pinto_10_ASD_discovery_cases-case5211_3
Agilent1M
maternal
NA
NA
RPL26P3
pinto_10_ASD_discovery_cases-case5218_3
Agilent1M
maternal
NA
NA
LINC02588
poultney_13_ASD_discovery_cases-case99HI0671A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI0868A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
poultney_13_ASD_discovery_cases-case99HI0868A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
prasad_12_ASD_discovery_cases-case88062L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case90193
Unknown
Unknown
Unknown
AP4S1
prasad_12_ASD_discovery_cases-case95578
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
LINC02588
sanders_11_ASD_discovery_cases-11549.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11630.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Maternal
Simplex (quad-proband matched)
Segregated
FOXG1-AS1
sanders_11_ASD_discovery_cases-11841.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11910.p1
Maternal
Simplex (trio)
NA
LINC02306
sanders_11_ASD_discovery_cases-11954.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12052.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12260.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12345.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PRKD1
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12418.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC02588
sanders_11_ASD_discovery_cases-12441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12454.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12827.p1
Paternal
Simplex (trio)
NA
LINC02588
sanders_11_ASD_discovery_cases-12837.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3171,LINC00645
sanders_11_ASD_discovery_cases-12865.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPL26P3
sanders_11_ASD_discovery_cases-13033.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13085.p1
Paternal
Simplex (trio)
NA
schmitz-abe_20_ASD_discovery_cases-caseAU-1210
qPCR
Both parents
Unknown
Not segregated
shin_15_ASD/DD/ID_discovery_cases-case26
Unknown
Unknown
LINC02286,HMGN2P6,OR7K1P,LINC02306
soueid_16_ASD_discovery_cases-caseCLIN22
Maternal
Simplex
HECTD1,HEATR5A
soueid_16_ASD_discovery_cases-caseLAS17
Paternal
Simplex
xu_16_ASD/DD/ID_discovery_cases-case5
Unknown
CYB5AP5,MIR4307,MIR3171,BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,FOXG1,LINC02282,RNU6-864P,LINC02294,LINC02293,MIR4307HG,LINC00645,LINC02300,FOXG1-AS1,LINC01551,LINC02281,LINC02306,NOVA1,LINC02588,LINC02327,LINC02326
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC09891
PCR or SNP data validation
Maternal
AKAP6
engchuan_15_ASD_discovery_controls-control110036010742_
Unknown
engchuan_15_ASD_discovery_controls-control110036017135_
Unknown
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
Unknown
CMA1
engchuan_15_ASD_discovery_controls-controlB225642_1007841224
Unknown
RPL26P3
engchuan_15_ASD_discovery_controls-controlB448294_1007870354
Unknown
CMA1
engchuan_15_ASD_discovery_controls-controlB549593_1007875496
Unknown
RPL26P3
engchuan_15_ASD_discovery_controls-controlB566863_1007875835
Unknown
LINC02588
engchuan_15_ASD_discovery_controls-controlB876806_1007852537
Unknown
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
Unknown
engchuan_15_ASD_discovery_controls-controlB970964_1007842336
Unknown
MIR3171,LINC00645
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901074_901074
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
Unknown
levy_11_ASD_discovery_controls-12375.s1
Paternal
Simplex
NA
RNU6-455P,NUBPL
levy_11_ASD_discovery_controls-12375.s1
Paternal
Simplex
NA
GPR33,HEATR5A,NUBPL,DTD2
nord_11_ASD_discovery_controls-04C26524
0 genes
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11630.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11954.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11986.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12345.s1
Maternal
Simplex (quad)
NA
PRKD1
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
RNU6-455P,NUBPL
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
GPR33,HEATR5A,NUBPL,DTD2
sanders_11_ASD_discovery_controls-12441.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12837.s1
Maternal
Simplex (quad)
NA
MIR3171,LINC00645
sanders_11_ASD_discovery_controls-12838.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13168.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available