18q21.32-q23CNV Type: Deletion
Largest CNV size: 20358999 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
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
584
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
N/A
N/A
19487072
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
19001333
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
19001333
1
0
1
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
19970000
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
20358999
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
19949624
1
0
1
sherman_21_ASD_discovery_cases
ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
12077
Cohort diagnosis of ASD
Range, 3-40+ yrs.
NA
17894103
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
19800000
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
20411248
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
sherman_21_ASD_discovery_cases
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0096
N/A
N/A
Developmental delay
Intrauterine growth restriction, failure to thrive, microcephaly, developmental delay, recurrent infections, small anterior fontanelle, strabismus, elevated palate, resolved laryngomalacia, atrial septal defect,bilateral cryptorchidism, curved penis, and rocker bottom feet (18q Syndrome). Consanguineous parents.
Developmental delay
60859819
80256240
19396422
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case416
N/A
M
ASD, developmental delay, and intellectual disability
Obesity, congenital anomalies, developmental delay, intellectual disability, deafness, autism, facial dysmorphism and thrombocytopenia
Intellectual disability
61254513
80255845
19001333
GRCh38
Deletion
No
chaves_24_ASD/DD/ID_discovery_cases-case416
M
ASD, developmental delay, and intellectual disability
Obesity, congenital anomaliess, developmental delay, deafness, ASD, facial dysmorphism, and thrombocytopenia.
Intellectual disability
61254513
80255845
19001333
GRCh38
Deletion
No
guo_19_DD/ID_discovery_cases-case10
32 mos.
M
Intellectual disability and autistic behavior
Motor deterioration, delayed social development, autistic behavior, delayed myelination, Arnold-Chiari type I malformation, intellectual disability, absent patellar reflexes, hypertelorism,
Intellectual disability
60356904
80238938
19882035
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0218-003
NA
F
ASD
RL/EL noverbal, severe repetitive behavior and dysmorphism, seizures, hypotonia
LOF severely impaired
59938389
80256745
20318357
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530617
M
Developmental delay
Global developmental delay (HP:0001263), abnormal cardiovascular system morphology (HP:0030680), abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202)
60423662
80373285
19949624
GRCh38
Deletion
No
sherman_21_ASD_discovery_cases-SSC_12246.p1
NA
M
ASD
ASD proband from the Simons Simplex Collection. SCQ summary score: NA. Mosaic cell fraction: 0.1659. CNV occurs on the maternal haplotype.
FSIQ 97, NVIQ 98
59435093
77329195
17894103
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case81
F
DD/ID
Scaphocephaly, short forehead, right thumb dysgenesis, body hypotonia, hypertonicity of extremities, heart defects, ompholocele, secondary interauricular communication
60531613
80252149
19720537
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0218-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Diet allergies - fish,nuts, chick peas; microcephaly, clubbed feet, cleft palate, tapered fingers, midfacial hypoplane
59938768
80259271
20320504
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0096
Unknown
Unknown
Unknown
RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,LINC00908,CTDP1
chaves_19_ASD/DD/ID_discovery_cases-case416
Unknown
RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02864,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,LINC01893,LINC01927,LINC01879,GALR1,SALL3,KCNG2,SLC66A2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,DIPK1C,LINC00683,CTDP1
chaves_24_ASD/DD/ID_discovery_cases-case416
Unknown
CDH7,ACTBP9,BCL2,CYB5A,SALL3,CDH20,CDH19,TIMM21,ZCCHC2,TMX3,CNDP2,ZNF407,RELCH,RBFA,CCDC102B,SLC66A2,NETO1,CNDP1,DSEL,SERPINB12,PARD6G,SERPINB11,DIPK1C,CBLN2,FAUP1,DOK6,RNF152,GTSCR1,FBXO15,LINC00305,GALR1,KDSR,LINC01924,ZADH2,HMSD,SMIM21,RPS2P6,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,LINC01538,ZNF516-DT,HSBP1L1,RPIAP1,RPL31P9,DSEL-AS1,AKR1B10P2,C18orf63,LINC01896,BDP1P,RPL26P35,HNRNPA1P11,RPL30P14,PARD6G-AS1,RPL17P44,MBP,MTL3P,NFATC1,SERPINB2,ZNF236-DT,FAM32DP,RPL12P39,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,SDHCP1,ATP5MC1P6,LINC02582,PRPF19P1,MIR5011,MIR548AV,RNU6-39P,LINC01544,RNA5SP461,RNA5SP460,LINC01029,LINC01910,ZNF516-AS1,LINC01927,LINC01922,LINC01909,LINC01903,SERPINB8,SERPINB13,SERPINB10,SERPINB5,LINC01899,LIVAR,LINC01893,LINC01912,SERPINB4,SERPINB3,RN7SL795P,RNU6-142P,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-116P,RNU6-1037P,LARP7P3,RN7SL705P,RNU6-346P,LINC01916,SERPINB7,TNFRSF11A,ZNF236,KDSR-DT,TSHZ1,VPS4B,ZNF516,CTDP1,SOCS6,CD226,TXNL4A,ADNP2,RTTN,PHLPP1,PIGN,KCNG2
guo_19_DD/ID_discovery_cases-case10
Unknown
MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,LINC01893,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,DIPK1C,LINC00683,CTDP1
marshall_08_ASD_discovery_cases-SK0218-003
qPCR, qmPCR
De novo
Multiplex-CHR
NA
NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,LINC00908,CTDP1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530617
Unknown
CDH7,ACTBP9,BCL2,CYB5A,SALL3,CDH20,CDH19,TIMM21,ZCCHC2,TMX3,CNDP2,ZNF407,RELCH,RBFA,CCDC102B,SLC66A2,NETO1,CNDP1,DSEL,SERPINB12,PARD6G,SERPINB11,DIPK1C,CBLN2,FAUP1,DOK6,RNF152,GTSCR1,FBXO15,LINC00305,CTBP2P3,GALR1,KDSR,LINC01924,ZADH2,HMSD,SMIM21,RPS2P6,ATP9B,MRPS5P4,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,LINC01538,ZNF516-DT,HSBP1L1,RPIAP1,RPL31P9,DSEL-AS1,AKR1B10P2,C18orf63,LINC01896,HMGN1P31,BDP1P,RPL26P35,HNRNPA1P11,RPL30P14,PARD6G-AS1,RPL17P44,MBP,MTL3P,NFATC1,SERPINB2,ZNF236-DT,FAM32DP,RPL12P39,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,SDHCP1,ATP5MC1P6,LINC02582,PRPF19P1,MIR5011,MIR548AV,RNU6-39P,LINC01544,RNA5SP461,RNA5SP460,LINC01029,LINC01910,ZNF516-AS1,LINC01927,LINC01922,LINC01909,LINC01903,SERPINB8,SERPINB13,SERPINB10,SERPINB5,LINC01899,LIVAR,LINC01893,LINC01912,SERPINB4,SERPINB3,RN7SL795P,RNU6-142P,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-116P,RNU6-1037P,LARP7P3,RN7SL705P,RNU6-346P,LINC01916,SERPINB7,TNFRSF11A,ZNF236,KDSR-DT,TSHZ1,VPS4B,ZNF516,CTDP1,SOCS6,CD226,TXNL4A,ADNP2,RTTN,PHLPP1,PIGN,KCNG2
sherman_21_ASD_discovery_cases-SSC_12246.p1
Simplex
BCL2,CDH7,ACTBP9,CYB5A,CDH19,CDH20,TIMM21,ZCCHC2,CNDP2,ZNF407,TMX3,RELCH,CCDC102B,NETO1,SERPINB11,CNDP1,SERPINB12,DSEL,DIPK1C,FAUP1,CCBE1,CBLN2,CTBP2P3,DOK6,LINC00305,GTSCR1,RNF152,FBXO15,GLUD1P4,KDSR,GALR1,HMSD,LINC01924,SMIM21,ZADH2,RPS2P6,ENTR1P1,MRPS5P4,LINC02864,LINC01538,ARL2BPP1,LINC00683,LINC01879,ZNF516-DT,RPS3AP49,RPIAP1,RPL31P9,NFE2L3P1,C18orf63,AKR1B10P2,HMGN1P31,SINHCAFP2,HNRNPA1P11,RPL26P35,RPL30P14,RPL17P44,MBP,SERPINB2,MC4R,MTL3P,ZNF236-DT,RPS26P54,FAM32DP,RPL12P39,LINC01898,LINC01541,LINC02582,ATP5MC1P6,PRPF19P1,SDHCP1,MIR548AV,MIR5011,RNA5SP460,RNU6-39P,LINC01544,LINC01927,LINC01909,LINC01922,LINC01910,LINC01903,SERPINB13,SERPINB5,SERPINB8,SERPINB10,PMAIP1,LINC01899,LIVAR,LINC01912,LINC01893,RN7SL342P,SERPINB3,SERPINB4,RN7SL795P,CCND3P2,RNU6-142P,RN7SL551P,RNU6-567P,RNU6-116P,RN7SL401P,RNU4-17P,RN7SL705P,LARP7P3,RNU6-346P,RNU6-1037P,LINC01916,TNFRSF11A,ZNF236,SERPINB7,TSHZ1,ZNF516,VPS4B,SOCS6,CD226,PIGN,PHLPP1,RTTN
tzetis_12_DD/ID_discovery_cases-case81
Unknown
Unknown
CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,LINC00908,CTDP1
yuen_17_ASD_discovery_cases-case1-0218-003
Agilent 1M
De novo
Multiplex
Not segregated
NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,LINC00908,CTDP1
Controls
No Control Data Available
No Animal Model Data Available