1p36.33-p36.31CNV Type: Deletion
Largest CNV size: 5700000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
4856103
1
0
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
4920000
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
6437038
9
1
10
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
5993509
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)
5700000
2
0
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
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
chaves_19_ASD/DD/ID_discovery_cases-case343
N/A
F
Developmental delay and intellectual disability
Developmental delay, speech and/or language delay or impairment, intellectual disability, congenital anomalies and hypothyroidism
Intellectual disability
914086
5770188
4856103
GRCh38
Deletion
No
jiao_19_EP/DD/ID_discovery_cases-case45599
1 yr. 2 mos.
Male
ASD, ID, and epilepsy/seizures
Behavioral/psychiatric evaluation: autism. Epilpesy/seizures: seizures (infantile spasms).
Intellectual disability
800989
5600209
4799221
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
5682587
4838241
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
6477436
5633090
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002572
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1181847
5507243
4325397
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002689
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
629044
7008678
6379635
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003787
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844147
5970026
5125880
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844147
5827203
4983057
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004151
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
5363885
4519539
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004418
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
5431639
4587293
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004605
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
5363885
4519539
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005104
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
6231924
5387578
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530434
M
Developmental delay
Global developmental delay (HP:0001263), atypical behavior (HP:0000708), abnormal cardiovascular system morphology (HP:0030680), abnormal facial shape (HP:0001999).
260001
6253509
5993509
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case1
F
DD/ID
Craniofacial dysmorphism typical of 1p36 microdeletion syndrome, hypotonia, short stature
629025
6303700
5674676
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case2
F
DD/ID
Craniofacial dysmorphism typical of 1p36 microdeletion syndrome, dystonia
629025
6158474
5529450
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case343
Unknown
KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,MMEL1-AS1,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC02782,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,PRDM16-DT,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC02780,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,LINC02781,AGRN,PRKCZ,PRDM16
jiao_19_EP/DD/ID_discovery_cases-case45599
Unknown
Unknown
Unknown
LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20-AS1,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001095
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,AGRN,PRKCZ,PRDM16,ACOT7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002572
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002689
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,AGRN,PRKCZ,PRDM16,ACOT7,CAMTA1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003787
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004151
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004418
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004605
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,AGRN,PRKCZ,PRDM16
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005104
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,AGRN,PRKCZ,PRDM16
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530434
Unknown
CDK11B,DVL1,MEGF6,DFFB,ARHGEF16,SDF4,WRAP73,SSU72,AURKAIP1,MXRA8,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,LRRC47,HES4,AJAP1,TP73-AS1,PRDM16,LINC00115,MMEL1,VWA1,MORN1,NADK,TAS1R3,OR4F16,CPTP,CCNL2,PLEKHN1,ATAD3B,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,TPRG1L,ACAP3,B3GALT6,TNFRSF14-AS1,ACTRT2,SAMD11,MIB2,CCDC27,MRPL20-AS1,ATAD3C,FAAP20,CALML6,GNB1,GABRD,FAM41C,TTLL10,NPHP4,LINC01342,LINC01777,C1orf174,TMEM52,TMEM240,KLHL17,HES5,TUBB8P11,AGRN,C1QTNF12,GPR153,SMIM1,RNF207,FAM87B,HES3,MIR200A,MIR200B,PRDM16-DT,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,LINC01128,EEF1DP6,MIR551A,LINC01346,CDK11A,SLC35E2B,RPL23AP24,OR4F29,LINC02593,LINC01134,CICP3,CICP7,TTC34,MIR4251,TTLL10-AS1,PRKCZ-AS1,MIR4689,MTND2P28,MTND1P23,RPL22,PEX10,PRKCZ,LINC01786,RNF207-AS1,MIR6726,MIR6808,LINC01770,MIR6727,LINC02782,LINC02780,LINC01345,LINC02781,LINC01646,TP73-AS3,LINC01409,MMEL1-AS1,WBP1LP7,SKI,SCNN1D,TP73,TNFRSF4,RNU6-1199P,RN7SL574P,MTATP8P1,MTATP6P1,MTCO3P12,NDUFB4P8,WBP1LP6,RN7SL657P,MTCO1P12,MTCO2P12,KCNAB2,TNFRSF14,MMP23A,TNFRSF18,MMP23B,TP73-AS2,MRPL20-DT,CEP104,SLC35E2A,PLCH2,ISG15,RER1,CHD5,NOC2L,ICMT
tzetis_12_DD/ID_discovery_cases-case1
De novo
Unknown
MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,GPR153,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,AGRN,PRKCZ,PRDM16,ACOT7
tzetis_12_DD/ID_discovery_cases-case2
De novo
Unknown
MTND1P23,MTND2P28,MTCO1P12,MTCO2P12,MTATP8P1,MTATP6P1,MTCO3P12,WBP1LP6,OR4F16,CICP3,RNU6-1199P,LINC00115,TUBB8P11,KLHL17,PERM1,ISG15,RNF223,LINC01342,MIR200B,MIR200A,MIR429,TTLL10-AS1,TNFRSF18,B3GALT6,SCNN1D,MIR6726,INTS11,MIR6727,TAS1R3,MIR6808,AURKAIP1,NDUFB4P8,MRPL20,RN7SL657P,ANKRD65,TMEM88B,LINC01770,FNDC10,MMP23B,MMP23A,TMEM52,GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,FAM87B,LINC01128,FAM41C,SAMD11,NOC2L,PLEKHN1,HES4,C1orf159,TNFRSF4,SDF4,C1QTNF12,UBE2J2,LINC01786,ACAP3,CPTP,DVL1,MXRA8,CCNL2,ATAD3C,ATAD3B,ATAD3A,TMEM240,MIB2,CDK11B,SLC35E2B,SLC35E2A,NADK,CALML6,FAAP20,SKI,RER1,PEX10,PANK4,TNFRSF14-AS1,TNFRSF14,PRXL2B,LINC00982,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,LINC02593,TTLL10,PUSL1,VWA1,SSU72,CDK11A,GNB1,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,AGRN,PRKCZ,PRDM16
Controls
No Control Data Available
No Animal Model Data Available