1p36.33-p36.23CNV Type: Deletion
Largest CNV size: 7966123 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Deletions within this region were identified in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
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
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
6909688
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
7318201
2
0
2
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
7783704
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
7966123
3
0
3
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
6787594
1
0
1
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
6131951
1
0
1
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_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
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_24_ASD/DD/ID_discovery_cases-case581
F
Newborn, hydrocephalus with mild to moderate colpocephay of the lateral ventricles, w/o intracranial hypertension, microtia grade I, overlapping toes, broad forehead, bulbous nose, in ICU under mechanical ventilation.
914087
7823774
6909688
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_266887
N/A
M
Developmental delay/intellectual disability
1955566
7520998
5565433
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300651
N/A
M
Developmental delay/intellectual disability
824379
8017899
7193521
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D1896
4 mos. 4 days
F
Developmental delay
Cerebral dysplasia
914086
8697789
7783704
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001636
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
859215
8747647
7888433
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005298
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
629025
8537745
7908721
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005302
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
844347
7151129
6306783
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case14
5 yrs.
F
Multiple congenital anomalies
Multiple congenital anomalies
914086
7577000
6662915
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case197
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
2112597
8244547
6131951
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_24_ASD/DD/ID_discovery_cases-case581
Unknown
CDK11B,DVL1,MEGF6,DFFB,ARHGEF16,SDF4,WRAP73,SSU72,AURKAIP1,MXRA8,HES2,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,DNAJC11,PLEKHG5,LRRC47,HES4,AJAP1,TP73-AS1,PRDM16,NOL9,MMEL1,VWA1,MORN1,NADK,TAS1R3,CPTP,CCNL2,PLEKHN1,TAS1R1,ATAD3B,ESPN,THAP3,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,TPRG1L,ACAP3,B3GALT6,TNFRSF14-AS1,ACTRT2,SAMD11,MIB2,CCDC27,PHF13,MRPL20-AS1,ATAD3C,FAAP20,CALML6,GNB1,GABRD,ZBTB48,TTLL10,NPHP4,LINC01342,LINC01777,C1orf174,TMEM52,TMEM240,KLHL17,HES5,AGRN,C1QTNF12,GPR153,SMIM1,RNF207,HES3,MIR200A,MIR200B,PRDM16-DT,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,EEF1DP6,MIR551A,LINC01346,CDK11A,SLC35E2B,LINC02593,LINC01134,TTC34,MIR4252,MIR4251,LINC01672,TTLL10-AS1,PRKCZ-AS1,MIR4689,CAMTA1-IT1,RPL22,PEX10,PRKCZ,LINC01786,CAMTA1-AS1,RNF207-AS1,MIR6726,MIR6808,LINC01770,MIR6727,CAMTA1-AS2,LINC02782,LINC02780,LINC01345,LINC02781,LINC01646,TP73-AS3,MMEL1-AS1,SKI,SCNN1D,TP73,TNFRSF4,RN7SL574P,RNU6-731P,NDUFB4P8,RNU1-8P,RN7SL657P,CAMTA1-DT,PER3,KCNAB2,TNFRSF14,MMP23A,TNFRSF25,TNFRSF18,MMP23B,TP73-AS2,MRPL20-DT,CEP104,VAMP3,KLHL21,SLC35E2A,PLCH2,ISG15,ACOT7,RER1,CHD5,NOC2L,CAMTA1,ICMT
digregorio_17_DD/ID_discovery_cases-DECIPHER_266887
qPCR
Unknown
GABRD,PRKCZ-AS1,HES5,ACTRT2,MIR4251,MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,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,CFAP74,MORN1,PLCH2,MMEL1,TTC34,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,PRKCZ,PRDM16,ACOT7,CAMTA1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300651
qPCR
Unknown
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,RNU1-8P,CAMTA1-IT1,VAMP3,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,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,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
han_22_ASD/DD/ID_discovery_cases-case15D1896
De novo
RERE,CDK11B,DVL1,MEGF6,DFFB,ARHGEF16,SDF4,WRAP73,SLC45A1,SSU72,AURKAIP1,MXRA8,HES2,ATAD3A,PANK4,C1orf159,INTS11,MRPL20,ERRFI1,DNAJC11,PLEKHG5,LRRC47,HES4,AJAP1,TP73-AS1,PRDM16,NOL9,MMEL1,VWA1,MORN1,NADK,TAS1R3,CPTP,CCNL2,PLEKHN1,TAS1R1,ATAD3B,ESPN,THAP3,CFAP74,PERM1,PUSL1,UBE2J2,PRXL2B,TPRG1L,ACAP3,B3GALT6,TNFRSF14-AS1,ACTRT2,SAMD11,MIB2,CCDC27,PHF13,MRPL20-AS1,ATAD3C,FAAP20,CALML6,TNFRSF9,GNB1,GABRD,ZBTB48,TTLL10,NPHP4,LINC01342,LINC01777,C1orf174,TMEM52,TMEM240,KLHL17,HES5,AGRN,C1QTNF12,GPR153,SMIM1,RNF207,HES3,MIR200A,MIR200B,PRDM16-DT,RNF223,ANKRD65,MIR429,FNDC10,TMEM88B,EEF1DP6,MIR551A,LINC01346,CDK11A,SLC35E2B,LINC02593,LINC01134,TTC34,MIR4252,MIR4251,LINC01672,TTLL10-AS1,PRKCZ-AS1,MIR4689,CAMTA1-IT1,RPL22,PEX10,PRKCZ,LINC01786,CAMTA1-AS1,RNF207-AS1,MIR6726,MIR6808,LINC01770,MIR6727,CAMTA1-AS2,LINC01714,RERE-AS1,LINC02782,LINC02780,LINC01345,LINC02781,LINC01646,TP73-AS3,MMEL1-AS1,SKI,SCNN1D,TP73,TNFRSF4,RNU6-991P,RN7SL574P,RNU6-731P,NDUFB4P8,RNU1-7P,RNU1-8P,RN7SL657P,CAMTA1-DT,PER3,KCNAB2,TNFRSF14,MMP23A,TNFRSF25,TNFRSF18,MMP23B,TP73-AS2,MRPL20-DT,CEP104,VAMP3,KLHL21,SLC35E2A,PLCH2,ISG15,UTS2,PARK7,ACOT7,RER1,CHD5,NOC2L,CAMTA1,ICMT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001636
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,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,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,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,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,RERE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005298
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,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,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,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,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,RERE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005302
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,RNU6-731P,LINC01672,CAMTA1-DT,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
lee_17_ASD/DD/ID/MCA_discovery_cases-case14
Unknown
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,RNU1-8P,CAMTA1-IT1,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
mahjani_21_ASD_discovery_cases-case197
Unknown
MEGF6,DFFB,ARHGEF16,WRAP73,DNAJC11,ERRFI1,PANK4,HES2,PLEKHG5,LRRC47,AJAP1,TP73-AS1,PRDM16,NOL9,MMEL1,MORN1,TAS1R1,ESPN,THAP3,TNFRSF14-AS1,PRXL2B,TPRG1L,ACTRT2,PHF13,CCDC27,FAAP20,ZBTB48,TNFRSF9,LINC01777,NPHP4,C1orf174,GPR153,HES5,SMIM1,RNF207,HES3,PRDM16-DT,EEF1DP6,LINC01346,MIR551A,LINC01134,TTC34,MIR4251,LINC01672,MIR4252,PRKCZ-AS1,MIR4689,CAMTA1-IT1,PRKCZ,PEX10,RPL22,CAMTA1-AS1,RNF207-AS1,CAMTA1-AS2,LINC01714,LINC02780,LINC02782,LINC01345,LINC02781,LINC01646,MMEL1-AS1,TP73-AS3,TP73,SKI,RNU6-731P,RN7SL574P,RNU1-8P,RNU1-7P,CAMTA1-DT,TNFRSF14,PER3,KCNAB2,TNFRSF25,TP73-AS2,CEP104,PLCH2,KLHL21,VAMP3,PARK7,ACOT7,RER1,UTS2,CHD5,CAMTA1,ICMT
Controls
No Control Data Available
No Animal Model Data Available