18p11.32-p11.21CNV Type: Duplication
Largest CNV size: 13924915 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Mosaic duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
14987946
1
0
1
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
14000000
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
15045442
1
2
3
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
13648944
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
15370682
11
3
14
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
14989889
2
0
2
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
15000000
0
2
2
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
12460014
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
15362847
0
2
2
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
15204228
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
13924915
0
1
1
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
13932927
2
0
2
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)
14700000
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
CMA, karyotyping, and/or MLPA
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case33A
5 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, broad nasal bridge, epicanthus, facial asymmetry, long philtrum.
Developmental delay/intellectual disability
136226
15124171
14987946
GRCh38
Deletion
No
battaglia_13_DD/ID/ASD_discovery_cases-case15
6 yrs.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
180299
13885316
13705018
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case169
N/A
F
Intellectual disability
Intellectual disability, facial dysmorphism and short stature
Intellectual disability
136226
15181667
15045442
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case422
N/A
M
Developmental delay
Congenital anomalies, developmental delay, facial dysmorphism, macrocephaly and renal cysts. Karyotype: 47, XY+mar.
136227
15099117
14962891
GRCh38
Triplication
No
han_22_ASD/DD/ID_discovery_cases-case15D3094
4 yrs. 2 mos.
M
Developmental delay and intellectual disability
Speech delay
Intellectual disability
136226
13785169
13648944
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000991
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
13715860
13566898
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001104
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
14081888
13932926
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001160
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
13530126
13381164
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001232
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
14081888
13932926
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002097
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
112259
14122522
14010264
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002215
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131700
15121055
14989356
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002467
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131700
14226905
14095206
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002588
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1919684
15325188
13405505
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002733
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10001
15380684
15370684
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003965
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
14081888
13932926
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004195
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
13068104
12919142
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004260
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131700
15121055
14989356
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004766
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
14081888
13932926
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005415
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
14081888
13932926
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case208
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
112534
15102422
14989889
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case212
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
139766
14988114
14848349
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown72
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 pathogenic
14316
14928855
14914540
GRCh38
Tetrasomy
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530620
F
Intellectual disability
Intellectual disability (HP:0001249).
1
12460014
12460014
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case157
NA
NA
Developmental delay and intellectual disability
Global developmental delay, epilepsy
Intellectual disability
13033
15375879
15362847
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case62
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
112534
14791237
14678704
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case88
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: tetrasomy 18p duplication
121464
15325693
15204230
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case22154
NA
NA
ASD
NA
NA
140284
14065199
13924915
Unknown
Mosaic duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case131
NA
F
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
148962
14081888
13932927
GRCh38
Deletion
No
streata_22_ASD/DD/ID_discovery_cases-case96
NA
F
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
148962
14081888
13932927
GRCh38
Deletion
Yes
tzetis_12_DD/ID_discovery_cases-case49
M
DD/ID
Craniofacial dysmorphism characteristic of 18p aneuplody, dental anomalies,
4326000
15380684
11054685
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
131700
14850106
14718407
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case33A
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,CYP4F35P,ANKRD62,LRRC30,LINC00667,POTEC,LINC01904,ANKRD30B,FGF7P1,OR4K8P,FEM1AP2,LINC01443,PMM2P1,LINC00668,CXADRP3,ANKRD20A5P,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,TERF1P2,SLC25A51P2,GAPDHP66,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,NF1P5,MC2R,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,VN1R74P,SNRPCP4,ZNF415P1,THEMIS3P,LONRF2P1,KATNBL1P3,SCML2P1,MIR3156-2,GAPLINC,ASNSP6,RHOT1P1,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,GRAMD4P7,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,GTF2IP8,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,LINC01444,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01906,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,FRG2LP,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU6-316P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RNU6-1021P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,RNU6-1210P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
battaglia_13_DD/ID/ASD_discovery_cases-case15
FISH or qPCR
De novo
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
chaves_19_ASD/DD/ID_discovery_cases-case169
De novo
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,COP1P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,LINC02856,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,LPIN2,LINC01895,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
chaves_19_ASD/DD/ID_discovery_cases-case422
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,COP1P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,LINC02856,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,LPIN2,LINC01895,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
han_22_ASD/DD/ID_discovery_cases-case15D3094
De novo
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,ANKRD62,LRRC30,LINC00667,LINC01904,PMM2P1,LINC00668,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,SLC25A51P2,GAPDHP66,DLGAP1-AS1,SLC35G4,RPL6P27,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,NDUFV2,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,SNRPCP4,ZNF415P1,THEMIS3P,KATNBL1P3,SCML2P1,GAPLINC,ASNSP6,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000991
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001104
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001160
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001232
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002097
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002215
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002467
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002588
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002733
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02564,MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003965
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004195
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004260
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004766
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005415
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
mahjani_21_ASD_discovery_cases-case208
Unknown
LDLRAD4,CETN1,CIDEA,ADCYAP1,CLUL1,CEP192,ENOSF1,SPIRE1,CHMP1B,TWSG1,PSMG2,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,COLEC12,SEH1L,CEP76,TXNDC2,EMILIN2,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,FAM210A,KRT18P8,LINC00526,APCDD1,C18orf15,IGLJCOR18,DLGAP1-AS3,RAB12,ZNF519,IMPA2,GNAL,DLGAP1-AS5,LAMA1,CYP4F35P,LINC00667,LRRC30,ANKRD62,POTEC,LINC01904,FGF7P1,ANKRD30B,LINC00668,LINC01443,FEM1AP2,PMM2P1,OR4K8P,ANKRD20A5P,CXADRP3,AKAIN1,TYMSOS,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,GAPDHP66,MIR3976HG,CBX3P2,PMM2P2,TERF1P2,RPS4XP19,SLC25A51P2,EIF4A2P1,TMEM200C,MIX23P1,CHORDC1P4,ROCK1P1,COP1P1,NPIPB1P,MIX23P3,KIAA0895LP1,AIDAP3,AKR1B1P6,COX6CP3,LINC01387,BOD1P1,BOD1P2,MC2R,MC5R,NDUFV2,NF1P5,RNU7-25P,RPL21P127,SDHDP1,LDLRAD4-AS1,RPL31P59,GACAT2,SNRPCP4,VN1R74P,ZNF415P1,THEMIS3P,SCML2P1,LONRF2P1,KATNBL1P3,ASNSP6,RHOT1P1,GAPLINC,SLC25A3P3,MIR4317,MIR3156-2,MIR3976,MIR4526,STK25P1,BOLA2P1,GRAMD4P7,MIR5190,RNA5SP450,RNA5SP449,LINC01882,RNU5F-3P,ARHGAP28-AS1,NDUFV2-AS1,GTF2IP8,LINC01254,PPP4R1-AS1,DLGAP1-AS4,LINC01255,LINC01444,L3MBTL4-AS1,PPIAP56,PPIAP14,PTPRM,PTPN2,MIR6718,MIR6788,MIR7153,TWSG1-DT,LINC01887,MYL12-AS1,LINC01906,LINC01895,LINC01892,LINC01928,LINC01925,RN7SL50P,RN7SL39P,RN7SKP146,TYMS,TGIF1,RNU6-340P,RNU6-170P,TOMM20P3,RN7SL862P,RNU6-349P,RN7SL282P,RNU6-324P,FRG2LP,RNU7-129P,RN7SL362P,RNU6-316P,PIGPP4,RNU6-831P,RNU6-916P,RNU1-109P,RNU6-1210P,RNU6-903P,RN7SKP72,RNU2-27P,RNU6-1021P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,ZBTB14,NAPG,YES1,MYOM1,THOC1-DT,CEP192-DT,LPIN2,USP14,DLGAP1,PPP4R1,VAPA,THOC1,NDC80,MYL12A,AFG3L2,RALBP1,RAB31,PRELID3A,MTCL1,SMCHD1,EPB41L3,ANKRD12
mahjani_21_ASD_discovery_cases-case212
Unknown
LDLRAD4,CETN1,CIDEA,ADCYAP1,CLUL1,CEP192,ENOSF1,SPIRE1,CHMP1B,TWSG1,PSMG2,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,COLEC12,SEH1L,CEP76,TXNDC2,EMILIN2,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,FAM210A,KRT18P8,LINC00526,APCDD1,C18orf15,IGLJCOR18,DLGAP1-AS3,RAB12,ZNF519,IMPA2,GNAL,DLGAP1-AS5,LAMA1,CYP4F35P,LINC00667,LRRC30,ANKRD62,POTEC,LINC01904,FGF7P1,ANKRD30B,LINC00668,LINC01443,FEM1AP2,PMM2P1,OR4K8P,ANKRD20A5P,CXADRP3,AKAIN1,TYMSOS,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,GAPDHP66,MIR3976HG,CBX3P2,PMM2P2,TERF1P2,RPS4XP19,SLC25A51P2,EIF4A2P1,TMEM200C,MIX23P1,CHORDC1P4,COP1P1,NPIPB1P,MIX23P3,KIAA0895LP1,AIDAP3,AKR1B1P6,COX6CP3,LINC01387,BOD1P1,BOD1P2,MC2R,MC5R,NDUFV2,NF1P5,RNU7-25P,RPL21P127,SDHDP1,LDLRAD4-AS1,RPL31P59,GACAT2,SNRPCP4,VN1R74P,ZNF415P1,THEMIS3P,SCML2P1,LONRF2P1,KATNBL1P3,ASNSP6,RHOT1P1,GAPLINC,SLC25A3P3,MIR4317,MIR3156-2,MIR3976,MIR4526,STK25P1,BOLA2P1,GRAMD4P7,MIR5190,RNA5SP450,RNA5SP449,LINC01882,RNU5F-3P,ARHGAP28-AS1,NDUFV2-AS1,GTF2IP8,LINC01254,PPP4R1-AS1,DLGAP1-AS4,LINC01255,LINC01444,L3MBTL4-AS1,PPIAP56,PPIAP14,PTPRM,PTPN2,MIR6718,MIR6788,MIR7153,TWSG1-DT,LINC01887,MYL12-AS1,LINC01906,LINC01895,LINC01892,LINC01928,LINC01925,RN7SL50P,RN7SL39P,RN7SKP146,TYMS,TGIF1,RNU6-340P,RNU6-170P,TOMM20P3,RN7SL862P,RNU6-349P,RN7SL282P,RNU6-324P,FRG2LP,RNU7-129P,RN7SL362P,RNU6-316P,PIGPP4,RNU6-831P,RNU6-916P,RNU1-109P,RNU6-1210P,RNU6-903P,RN7SKP72,RNU2-27P,RNU6-1021P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,ZBTB14,NAPG,YES1,MYOM1,THOC1-DT,CEP192-DT,LPIN2,USP14,DLGAP1,PPP4R1,VAPA,THOC1,NDC80,MYL12A,AFG3L2,RALBP1,RAB31,PRELID3A,MTCL1,SMCHD1,EPB41L3,ANKRD12
maini_18_ASD/DD/ID_discovery_cases-case_unknown72
Unknown
Unknown
Unknown
LINC02564,MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530620
Unknown
CIDEA,ADCYAP1,CETN1,CLUL1,ENOSF1,SPIRE1,CHMP1B,TWSG1,LINC00470,ARHGAP28,PIEZO2,METTL4,MPPE1,EMILIN2,COLEC12,TXNDC2,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,APCDD1,LINC00526,IGLJCOR18,DLGAP1-AS3,RAB12,IMPA2,GNAL,LAMA1,TUBB8B,DLGAP1-AS5,ANKRD62,LRRC30,LINC00667,LINC01904,PMM2P1,LINC00668,AKAIN1,TYMSOS,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,SLC25A51P2,GAPDHP66,DLGAP1-AS1,SLC35G4,RPL6P27,ROCK1P1,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,NDUFV2,IL9RP4,RNU7-25P,GACAT2,RPL21P127,RPL31P59,SDHDP1,SNRPCP4,ZNF415P1,THEMIS3P,KATNBL1P3,SCML2P1,GAPLINC,ASNSP6,MIR4317,SLC25A3P3,MIR3976,BOLA2P1,RNU5F-3P,RNA5SP450,RNA5SP449,DLGAP1-AS4,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,L3MBTL4-AS1,PTPRM,PPIAP14,MIR7153,MIR6718,MIR8078,TWSG1-DT,LINC02564,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,ELOCP27,CHMP1B-AS1,LINC02856,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
miclea_22_DD/ID_discovery_cases-case157
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,TUBB8B,DLGAP1-AS5,CYP4F35P,ANKRD62,LRRC30,LINC00667,POTEC,LINC01904,ANKRD30B,FGF7P1,OR4K8P,FEM1AP2,LINC01443,PMM2P1,LINC00668,CXADRP3,ANKRD20A5P,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,TERF1P2,SLC25A51P2,GAPDHP66,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,ROCK1P1,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,NF1P5,MC2R,IL9RP4,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,VN1R74P,SNRPCP4,ZNF415P1,THEMIS3P,LONRF2P1,BNIP3P3,KATNBL1P3,SCML2P1,MIR3156-2,GAPLINC,ASNSP6,RHOT1P1,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,GRAMD4P7,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,GTF2IP8,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,LINC01444,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,MIR8078,TWSG1-DT,LINC02564,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01906,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,FRG2LP,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU6-316P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RNU6-1021P,RN7SKP72,RNU6-721P,RNU6-903P,RNU6-831P,RNU2-27P,RNU6-1210P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
miclea_22_DD/ID_discovery_cases-case62
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,CYP4F35P,ANKRD62,LRRC30,LINC00667,POTEC,LINC01904,ANKRD30B,OR4K8P,FEM1AP2,PMM2P1,LINC00668,CXADRP3,ANKRD20A5P,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,TERF1P2,SLC25A51P2,GAPDHP66,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,ROCK1P1,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,NF1P5,MC2R,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,VN1R74P,SNRPCP4,ZNF415P1,THEMIS3P,LONRF2P1,KATNBL1P3,SCML2P1,GAPLINC,ASNSP6,RHOT1P1,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,GRAMD4P7,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,GTF2IP8,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,FRG2LP,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU6-316P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RNU6-1021P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,RNU6-1210P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
pfundt_16_NDD_discovery_cases-case88
Array SNP (Affymetrix CytoScan HD)
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
rosenfeld_10_ASD_discovery_cases-case22154
FISH
Unknown
Unknown
Unknown
USP14,THOC1,COLEC12,CETN1,CLUL1,C18orf56,TYMS,ENOSF1,YES1,ADCYAP1,METTL4,NDC80,SMCHD1,EMILIN2,LPIN2,MYOM1,MYL12A,MYL12B,TGIF1,DLGAP1,C18orf42,ZFP161,EPB41L3,TMEM200C,L3MBTL4,LOC100130480,ARHGAP28,LAMA1,LRRC30,PTPRM,RAB12,CCDC165,NDUFV2,ANKRD12,TWSG1,RALBP1,PPP4R1,RAB31,TXNDC2,VAPA,APCDD1,NAPG,PIEZO2,GNAL,CHMP1B,MPPE1,IMPA2,CIDEA,TUBB6,AFG3L2,SLMO1,SPIRE1,PSMG2,CEP76,PTPN2,SEH1L,CEP192,C18orf1,FAM210A,RNMT,MC5R,MC2R
streata_22_ASD/DD/ID_discovery_cases-case131
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,ANKRD62,LRRC30,LINC00667,LINC01904,PMM2P1,LINC00668,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,SLC25A51P2,GAPDHP66,DLGAP1-AS1,SLC35G4,RPL6P27,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,MC2R,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,SNRPCP4,ZNF415P1,THEMIS3P,KATNBL1P3,SCML2P1,GAPLINC,ASNSP6,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
streata_22_ASD/DD/ID_discovery_cases-case96
CMA, karyotyping, and/or MLPA
De novo
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,ANKRD62,LRRC30,LINC00667,LINC01904,PMM2P1,LINC00668,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,SLC25A51P2,GAPDHP66,DLGAP1-AS1,SLC35G4,RPL6P27,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,MC2R,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,SNRPCP4,ZNF415P1,THEMIS3P,KATNBL1P3,SCML2P1,GAPLINC,ASNSP6,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RN7SKP72,RNU6-903P,RNU6-831P,RNU2-27P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
tzetis_12_DD/ID_discovery_cases-case49
Maternal (mosiac deletion)
Unknown
PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
tzetis_12_DD/ID_discovery_cases-case81
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
Controls
No Control Data Available
No Animal Model Data Available