20q13.13CNV Type: Deletion-Duplication
Largest CNV size: 89403 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
3644
1
0
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
2375951
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
89402
1
0
1
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
154000
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
79907
1
0
1
huynh_18_DD/ID_discovery_cases
Male proband born to healthy, non-consanguineous parents with unremarkable family history presenting with a de novo 20q13.13 microdeletion encompassing the ADNP gene
1
Case was diagnosed with Helsmoortel-van der Aa syndrome and presented with intellectual disability, motor delay, severe speech and language delay, autistic features and other behavioral abnormalities, and dysmorphic features
3 years 10 months
Male
63000
1
0
1
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
113588
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
25397
2
1
3
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
68760
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
89403
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
66603
2
1
3
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
8434
1
0
1
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
7609
3
1
4
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
1078529
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
495622
3
3
6
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
42270
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
42270
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.
11612
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
66603
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.
29428
4
3
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
huynh_18_DD/ID_discovery_cases
Caucasian
aCGH
Agilent 60K
FISH
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSSC00137
N/A
M
ASD
Case from SSC_phase1 cohort
49035634
49039278
3645
GRCh38
Deletion
Yes
chaves_24_ASD/DD/ID_discovery_cases-case826
F
Developmental delay and learning disability
Congenital cardiopathy, nephropathy, cognitive delay and motor delay.
Specific learning disability.
48533564
50909514
2375951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4448_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49529734
49619136
89403
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD094
4 yrs. 2 mos.
M
ASD
CARS score 41.5 (severe severity)
50914691
51069099
154409
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU056705
Autism
47589174
47669080
79907
Unknown
Deletion
No
huynh_18_DD/ID_discovery_cases-case1
3 yrs. 10 mos.
M
Intellectual disability
Case was diagnosed with Helsmoortel-van der Aa syndrome. Birth/neonatal history: born at 39 + 6 weeks following a pregnancy marked with maternal hyperglycemia; birth weight of 3320 g (25th-50th %ile), length of 47 cm (10th-25th %ile), and head circumference of 36 cm (> 90th %ile); hypotonia noted at birth. Developmental milestones: motor delay (able to walk unsupported with kinesitherapy at 24 months); severe speech and language delay (first word at 16 months, combination of words into short sentences at 4 years). Motor and musculoskeletal evaluation: hypotonia, joint hyperlaxity, ataxic gait. Behavioral/psychiatric evaluation: pervasive developmental disorder; difficulties in social interaction and communication, poor eye contact, and sleep disturbances; episodic mood disorders such as an angry, irritable mood; hetero-aggression. EEG: normal. Brain imaging: normal brain MRI. Additional medical history: recurrent respiratory infections, severe constipation. Dysmorphic features: prominent forehead, high anterior hairline, wide palpebral fissures, broad nasal bridge, short nose, long/smooth philtrum, thin upper lip vermillion, protruding lower lip, hypertelorism, strabismus, small ears, premature tooth eruption. Growth parameters: weight of 18 kg (75th %ile), height of 105 cm (50th %ile), and head circumference of 49.8 cm (25th %ile) at the age of 55 months. Family history: healthy, non-consanguineous Caucasian parents with unremarkable family history; healthy 11-year-old sibling.
Intellectual disability
50892139
50955271
63133
GRCh38
Deletion
Yes
iourov_12_ASD/ID/EP_discovery_cases-case41
3 yrs.
F
Developmental delay
Severe speech delay, microcephaly, facial dysmorphisms, single transverse palmar crease. Karyotype: 9qh-.
Severe cognitive delay
49475314
49588902
113589
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case11349.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
49094731
49120128
25398
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14016.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
49539569
49561893
22325
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14328.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
49539569
49561893
22325
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400125
N/A
M
ASD
Diagnosis of childhood autism (ADOS=19). Motor and musculoskeletal evaluation: hypotonia. Epilepsy/seizures: epilepsy in the first years of life. Additional medical history: strabismus, dental caries, otitis. Dysmorphic features: narrow occiput, small and low-set ears. Father's DNA not available for testing.
Severe intellectual disability
50891451
50960211
68761
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1206_5
NA
M
ASD
NA
NA
49529734
49619136
89403
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case60682L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
47311770
47378372
66603
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62224-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
47259064
47276732
17669
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case76018L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
47585863
47612359
26497
Unknown
Deletion
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG013454
NA
M
Seizures
Patient was of European ancestry and presented with seizures.
49478977
49487410
8434
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
49810490
49818099
7610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
48629589
48635149
5561
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
48882584
48883538
955
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
50772694
50778974
6281
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case344
NA
F
Intellectual disability
Facial dysmorphism.
Mild/moderate intellectual disability
48157845
49236373
1078529
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
N/A
N/A
Control
No previous psychiatric history
50594774
50869409
274636
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
N/A
N/A
Control
No previous psychiatric history
49767147
49824970
57824
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
N/A
N/A
Control
No previous psychiatric history
48455982
48491735
35754
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB672797_1007840999
N/A
N/A
Control
No previous psychiatric history
48309150
48816978
507829
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
N/A
N/A
Control
No previous psychiatric history
49529734
49619136
89403
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902529_902529
N/A
N/A
Control
No previous psychiatric history
49529734
49619136
89403
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13815.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13815. SRS score of 44.
49507919
49550189
42271
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11768.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49094139
49120128
25990
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13815.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
49507919
49550189
42271
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27935
Control
45842598
45854209
11612
Unknown
Duplication
sanders_11_ASD_discovery_controls-11233.s1
4.7
M
Control (matched sibling)
NA
NA
49810490
49818099
7610
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
48460986
48484220
23235
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11349.s1
8.6
M
Control (matched sibling)
NA
NA
49092113
49113801
21689
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
48629589
48632917
3329
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
48629589
48632917
3329
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
49092113
49121541
29429
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11828.s1
5.5
F
Control (matched sibling)
NA
NA
50156017
50169386
13370
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC00137
PCR or SNP data validation
Maternal
SNAP23P1,ARFGEF2
chaves_24_ASD/DD/ID_discovery_cases-case826
Unknown
CEBPB,CSE1L,SNORD12C,DDX27,BCAS4,ZNFX1,PREX1,RNF114,PARD6B,ARPC3P1,RIPOR3,RPL36P2,COX6CP2,SNRPFP1,LINC01270,PEDS1-UBE2V1,PEDS1,KRT18P4,ZFAS1,MIR645,SNORD12,SNORD12B,KCNB1,MIR1302-5,PELATON,RIPOR3-AS1,TRERNA1,LINC01271,LINC01275,LINC01273,CEBPB-AS1,SNAP23P1,PTGIS,PTPN1,STAU1,TMSB4XP6,UBE2V1,SNAI1,RNU6-919P,RNU6-147P,RN7SL197P,RN7SL636P,RN7SL672P,B4GALT5,SPATA2,ARFGEF2,SLC9A8,ADNP
engchuan_15_ASD_discovery_cases-case4448_100
Unknown
PTGIS
fan_19_ASD_discovery_cases-caseASD094
Unknown
Unknown
Unknown
MOCS3,ADNP,ADNP-AS1,DPM1,KCNG1
gai_11_ASD_replication_cases-AU056705
Inherited
PTGIS
huynh_18_DD/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
PSMD10P1,ADNP,ADNP-AS1,DPM1
qRT-PCR analysis showed approximately 40% reduction in ADNP expression in the proband vs. controls
iourov_12_ASD/ID/EP_discovery_cases-case41
Unknown
Unknown
Unknown
KCNB1,PTGIS
krumm_15_ASD_discovery_cases-case11349.p1
Illumina 1M
Paternal
Simplex
Segregated
CSE1L,STAU1
krumm_15_ASD_discovery_cases-case14016.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PTGIS
krumm_15_ASD_discovery_cases-case14328.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PTGIS
leblond_19_ASD_discovery_cases-casePN400125
Unknown (not maternal)
Simplex
Unknown
PSMD10P1,MOCS3,ADNP,ADNP-AS1,DPM1
pinto_10_ASD_discovery_cases-case1206_5
Affy5.0
maternal
NA
NA
PTGIS
prasad_12_ASD_discovery_cases-case60682L
Unknown
Unknown
Unknown
SNORD12C,SNORD12B,ZNFX1,NCRNA00275,SNORD12
prasad_12_ASD_discovery_cases-case62224-L
Unknown
Unknown
Unknown
DDX27
prasad_12_ASD_discovery_cases-case76018L
Unknown
Unknown
Unknown
PTGIS
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG013454
Unknown
Simplex
KCNB1
sanders_11_ASD_discovery_cases-11233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC9A8
sanders_11_ASD_discovery_cases-11479.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PREX1
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12656.p1
Paternal
Simplex (quad-proband matched)
Not segregated
streata_22_ASD/DD/ID_discovery_cases-case344
Unknown
CSE1L,DDX27,PREX1,ARPC3P1,LINC00494,SNAP23P1,RNU7-144P,STAU1,ARFGEF2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
Unknown
MIR1302-5,RPL36P2,TMSB4XP6,PARD6B,RIPOR3,BCAS4
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
Unknown
RNU6-919P,SLC9A8
engchuan_15_ASD_discovery_controls-controlB549487_1007840956
Unknown
engchuan_15_ASD_discovery_controls-controlB672797_1007840999
Unknown
RNU7-144P,LINC00494,PREX1
engchuan_15_ASD_discovery_controls-controlHABC_900800_900800
Unknown
PTGIS
engchuan_15_ASD_discovery_controls-controlHABC_902529_902529
Unknown
PTGIS
krumm_13_ASD_discovery_controls-control13815.s1
Paternal
Simplex
PTGIS
krumm_15_ASD_discovery_controls-control11768.s1
Illumina 1MDuo
Paternal
CSE1L,STAU1
krumm_15_ASD_discovery_controls-control13815.s1
Omni2.5-4v1
Paternal
PTGIS
nord_11_ASD_discovery_controls-04C27935
SULF2
sanders_11_ASD_discovery_controls-11233.s1
Maternal
Simplex (quad)
NA
SLC9A8
sanders_11_ASD_discovery_controls-11256.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11349.s1
Paternal
Simplex (quad)
NA
CSE1L,STAU1
sanders_11_ASD_discovery_controls-11353.s1
Unknown
Simplex (quad)
NA
PREX1
sanders_11_ASD_discovery_controls-11556.s1
Unknown
Simplex (quad)
NA
PREX1
sanders_11_ASD_discovery_controls-11768.s1
Paternal
Simplex (quad)
NA
CSE1L,STAU1
sanders_11_ASD_discovery_controls-11828.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available