Yp11.32-q12CNV Type: Duplication
Largest CNV size: 57458676 bp
Statistics Box:
Number of Reports: 8
Number of Reports: 8
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.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
57758356
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
26626859
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
59300000
0
1
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
57763586
0
5
5
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
57227415
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
57458676
0
2
2
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
59373566
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
59373566
0
4
4
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
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
57227415
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
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
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
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case11
5 yrs. 4 mos.
M
PDD-NOS and developmental delay/intellectual disability
Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes. Karyotype: 47, XYY.
Mild-moderate DD/ID
1196121
57217415
56021295
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case454
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
11090
26637948
26626859
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_301281
N/A
M
Developmental delay/intellectual disability
11091
57189762
57178672
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001601
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10702
57197007
57186306
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001602
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10702
57197007
57186306
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001836
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
238822
57165209
56926388
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003856
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
57208726
57198048
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004461
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10679
57208726
57198048
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0516
26 yrs.
M
ASD
Developmental milestones: language delay. Behavioral/psychiatric evaluation: sensory hypersensitivity (auditory and tactile hypersensitivity). Family history: negative.
IQ > 70
1
57227415
57227415
GRCh38
Duplication
N/A
rosenfeld_10_ASD_discovery_cases-case15336
NA
NA
ASD
NA
NA
262578
57715878
57453300
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case20241
NA
NA
ASD
NA
NA
262578
57721254
57458676
Unknown
Duplication
Yes
wolfe_16_ID_discovery_cases-case1
59 yrs.
M
Intellectual disability
Psychiatric history: depression, on forensic in-patient section. Mini PAS-ADD evaluation: none met. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: hypertension, hypercholesterolemia, type I diabetes, absent kidney, constipation, cataracts, anemia, asthma, osteoarthritis. Dysmorphic features: N/A. Growth parameters: height 176 cm, head circumference 58.5 cm. Ethnicity: white (British).
Mild intellectual disability
10001
57217415
57207415
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14AG908
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): ASD traits
10001
57217415
57207415
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1189-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
10001
57217415
57207415
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1512-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
10001
57217415
57207415
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case264923
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): NOT OUR SAMPLE
10001
57217415
57207415
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kushima_18_ASD/SCZ_discovery_controls-controlCON0262
32 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
1
57227415
57227415
GRCh38
Duplication
N/A
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case11
FISH or qPCR
De novo
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
cucinotta_23_ASD_discovery_cases-case454
Unknown
CD24P4,ASS1P6,ACTG1P2,AMELY,DAZ1,TRAPPC2P3,SNORA70,TRAPPC2P4,TRAPPC2P5,TTTY1,DAZ2,DAZ3,DAZ4,TTTY2,PSMA6P1,RBMY3AP,TSPY2,TTTY14,TTTY13,PCDH11Y,TTTY12,TTTY11,TTTY5,GOLGA2P2Y,TBL1Y,TTTY6,TTTY8,TGIF2LY,HSFY1,CSPG4P2Y,TTTY4,TTTY3,CSPG4P1Y,RBMY2CP,TUBB1P2,RPS4Y2,RBMY2KP,GAPDHP19,CDY10P,RBMY2FP,CDY2B,RBMY2EP,RBMY1F,HSFY2,TTTY10,TTTY23,TTTY18,TTTY17A,TTTY20,TTTY22,TTTY7,CDY1B,TTTY21,FAM197Y2,ZNF736P3Y,TTTY19,TXLNGY,CYCSP46,MXRA5Y,PUDPP1,TBL1YP1,CDY3P,FAM41AY1,BCORP1,RBMY1A3P,TPTE2P4,CDY17P,RBMY2BP,OFD1P3Y,OFD1P7Y,OFD1P15Y,RBMY2GP,TAF9P2,CDY9P,OFD1P4Y,OFD1P11Y,MED14P1,CDY19P,VDAC1P6,VCY1B,TMEM167AP1,TSPY5P,PPP1R12BP1,RBMY2OP,CDY14P,CYCSP48,TUSC2P1,OFD1P8Y,TAF9P1,USP9YP1,XKRYP4,CDY15P,XKRYP3,USP9YP34,OFD1P2Y,RBMY2UP,GYG2P1,RFTN1P1,ATP5PFP1,AGKP1,TSPY13P,PRRC2CP1,UBE2V1P3,OFD1P1Y,GOLGA6L11P,CDY5P,CDY8P,CDY22P,TSPY11P,USP12PY,OFD1P5Y,RBMY2WP,RBMY2DP,RBMY2YP,XKRYP1,RBMY2XP,OFD1P13Y,TSPY14P,XKRY2,RBMY2TP,USP9YP2,CDY12P,TUBB1P1,OFD1P6Y,FAM8A4P,RBMY1E,CDY20P,CDY13P,OFD1P12Y,XKRYP6,XKRYP5,RBMY1B,RNASEH2CP1,GPR143P,RBMY2NP,OFD1P9Y,EIF4A1P2,CDY7P,CICP2,CDY6P,USP9YP4,RBMY1D,KDM5DP1,PPP1R12BP2,CDY4P,XKRYP2,RBMY2QP,OFD1P10Y,KRT18P10,GAPDHP17,RBMY1J,DLGAP5P1,RBMY2JP,CDY23P,PARP4P1,CYCSP49,CDY18P,SERBP1P2,TSPY12P,NEFLP1,RBMY2HP,USP9YP3,CDY11P,CICP1,ZNF736P2Y,TRAPPC2P7,TRAPPC2P10,TRAPPC2P9,TRAPPC2P8,FAM224B,ACTG1P11,TTTY9B,GOLGA2P3Y,FAM224A,RPL26P37,TTTY6B,TTTY4C,BPY2C,ZNF736P1Y,TTTY17B,DUX4L19,PRY2,TTTY3B,PRYP1,PRYP4,HSFY3P,TTTY17C,OFD1P16Y,TSPY18P,TTTY4B,ACTR3BP1,TAB3P1,PRYP3,TSPY15P,PRYP2,BPY2B,DUX4L17,SURF6P1,HSFY4P,AGPAT5P1,TSPY3,RCC2P1,TSPY6P,TSPY8,DUX4L16,TSPY7P,TSPY16P,TSPY4,ANKRD20A6P,TTTY23B,TTTY21B,TTTY8B,SLC9B1P1,TTTY1B,TTTY2B,TTTY7B,NAP1L1P2,CDC27P2,TSPY20P,ANOS2P,TSPY17P,XGY2,PABPC1P5,CHEK2P1,FAM197Y9,ANKRD36P1,DUX4L18,TSPY19P,DNM1P24,TSPY10,FAM197Y5,RAB9AP1,ELOCP5,RAB9AP2,FAM197Y1,GOLGA6L16P,TSPY23P,TSPY22P,RAB9AP5,FAM197Y4,RAB9AP3,LINC00265-2P,TTTY25P,LINC00265-3P,CSPG4P3Y,TSPY21P,CSPG4P4Y,LINC00266-2P,RAB9AP4,ZNF736P9Y,ZNF736P11Y,ZNF736P8Y,ZNF736P12Y,CLUHP1,RNF19BPY,SNX18P1Y,ZNF885P,FAM41AY2,ZNF736P6Y,ZNF736P4Y,DNM1P48,ZNF839P1,ZNF736P10Y,ZNF92P1Y,ZNF886P,ZNF736P7Y,CLUHP2,DPPA2P1,TRIM60P5Y,TRIM60P8Y,CCNQP2,USP9YP5,USP9YP11,RCC2P2,USP9YP8,TRIM60P11Y,USP9YP9,CDRT15P10,TRIM60P10Y,TRIM60P3Y,UBE2Q2P5Y,USP9YP10,TRIM60P9Y,UBE2Q2P4Y,ELOCP14,ELOCP7,USP9YP7,MTND2P3,MTND6P1,MTND1P1,PNPLA4P1,ELOCP16,ELOCP17,MTCYBP1,ELOCP8,ELOCP12,ELOCP11,ELOCP9,ELOCP6,ELOCP15,TOMM22P1,TOMM22P2,USP9YP6,ELOCP13,ELOCP4,SLC25A15P1,USP9YP19,GOT2P5,USP9YP23,MED13P1,ELOCP10,PRORY,USP9YP13,LINC00266-4P,MTCYBP2,RNA5SP519,RNA5-8SP6,SRIP3,RNA5SP518,RBMY1KP,TSPY25P,TSPY24P,BPY2DP,DUX4L31,USP9YP30,LINC00280,LINC00279,LINC00278,NLGN4Y-AS1,PCMTD1P1,USP9YP22,EEF1A1P41,USP9YP12,SNX3P1Y,ELOCP36,PRKY,RBMY1HP,RBMY1A1,RBMY2AP,RPS4Y1,REREP2Y,REREP1Y,RNA5SP522,RNA5SP521,USP9YP24,USP9YP31,FAM197Y6,USP9YP33,FAM197Y8,FAM197Y7,USP9YP36,USP9YP16,HSFY5P,HSFY7P,USP9YP26,PRYP5,SRY,UTY,TSPY1,STSP1,RNU1-107P,RNU2-57P,USP9YP21,RNU1-128P,RN7SL818P,ELOCP35,RNU6-303P,RNU1-40P,RNU6-184P,RNU6-1334P,RNU1-97P,GPM6BP2,RNU6-255P,USP9YP25,PRYP6,RN7SL725P,HSFY6P,RNA5SP523,RNU1-86P,ZNF736P5Y,GPM6BP1,USP9YP27,RN7SKP282,USP9YP15,USP9YP29,HSFY8P,RNA5SP520,USP9YP20,RNU6-109P,USP9YP35,RN7SL702P,MTND1P12,USP9YP17,USP9YP32,USP9YP18,RNU6-1314P,RNU6-941P,RNU1-95P,RNU6-521P,ELOCP34,USP9YP28,USP9YP14,RNU1-41P,RNU1-48P,FAM197Y3,ZFY-AS1,ZFY,XGY1,DDX3Y,KDM5D,USP9Y,ELOCP26,BPY2,CASKP1,ARSDP1,EIF1AY,CDY2A,TMSB4Y,XKRY,CDY1,SHROOM2P1,PRY,VCY,ARSLP1,NLGN4Y,OFD1P18Y,RPS24P1,SFPQP1,ARSFP1
digregorio_17_DD/ID_discovery_cases-DECIPHER_301281
qPCR
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001601
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001602
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001836
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003856
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004461
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
kushima_18_ASD_discovery_cases-caseASD0516
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
rosenfeld_10_ASD_discovery_cases-case15336
FISH
Unknown
Unknown
Unknown
PPP2R3B,SHOX,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL,P2RY8,AKAP17A,ASMT,DHRSX,ZBED1,RPS4Y1,TGIF2LY,CD99,SRY,ZFY,PCDH11Y,TSPY2,AMELY,TBL1Y,TSPY4,TSPY8,TSPY3,TSPY1,USP9Y,DDX3Y,UTY,TMSB4Y,VCY,VCY1B,NLGN4Y,XKRY,XKRY2,CDY2B,CDY2A,HSFY2,HSFY1,CD24,KDM5D,EIF1AY,RPS4Y2,RBMY1B,RBMY1A1,RBMY1D,RBMY1E,PRY,PRY2,RBMY1F,RBMY1J,BPY2,BPY2C,BPY2B,DAZ4,DAZ1,DAZ3,DAZ2,CDY1,CDY1B,SPRY3,VAMP7
rosenfeld_10_ASD_discovery_cases-case20241
FISH
Unknown
Unknown
Unknown
PPP2R3B,SHOX,CRLF2,CSF2RA,IL3RA,SLC25A6,ASMTL,P2RY8,AKAP17A,ASMT,DHRSX,ZBED1,RPS4Y1,TGIF2LY,CD99,SRY,ZFY,PCDH11Y,TSPY2,AMELY,TBL1Y,TSPY4,TSPY8,TSPY3,TSPY1,USP9Y,DDX3Y,UTY,TMSB4Y,VCY,VCY1B,NLGN4Y,XKRY,XKRY2,CDY2B,CDY2A,HSFY2,HSFY1,CD24,KDM5D,EIF1AY,RPS4Y2,RBMY1B,RBMY1A1,RBMY1D,RBMY1E,PRY,PRY2,RBMY1F,RBMY1J,BPY2,BPY2C,BPY2B,DAZ4,DAZ1,DAZ3,DAZ2,CDY1,CDY1B,SPRY3,VAMP7
wolfe_16_ID_discovery_cases-case1
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14AG908
RT-qPCR or WGS
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,TUSC2P1,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,LINC00266-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,AMELY,ZNF736P8Y,ZNF736P9Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,MED14P1,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,TTTY17C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,TTTY2B,TBL1Y,RFTN1P1,TTTY22,RBMY2QP,GYG2P1,XGY1,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,BCORP1,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,LINC00278,PCDH11Y,PRKY,USP9Y,NLGN4Y,TTTY14
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1189-003
RT-qPCR or WGS
De novo
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,TUSC2P1,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,LINC00266-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,AMELY,ZNF736P8Y,ZNF736P9Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,MED14P1,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,TTTY17C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,TTTY2B,TBL1Y,RFTN1P1,TTTY22,RBMY2QP,GYG2P1,XGY1,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,BCORP1,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,LINC00278,PCDH11Y,PRKY,USP9Y,NLGN4Y,TTTY14
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1512-003
RT-qPCR or WGS
De novo
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,TUSC2P1,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,LINC00266-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,AMELY,ZNF736P8Y,ZNF736P9Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,MED14P1,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,TTTY17C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,TTTY2B,TBL1Y,RFTN1P1,TTTY22,RBMY2QP,GYG2P1,XGY1,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,BCORP1,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,LINC00278,PCDH11Y,PRKY,USP9Y,NLGN4Y,TTTY14
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case264923
RT-qPCR or WGS
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,TUSC2P1,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,LINC00266-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,AMELY,ZNF736P8Y,ZNF736P9Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,MED14P1,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,TTTY17C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,TTTY2B,TBL1Y,RFTN1P1,TTTY22,RBMY2QP,GYG2P1,XGY1,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,BCORP1,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,LINC00278,PCDH11Y,PRKY,USP9Y,NLGN4Y,TTTY14
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kushima_18_ASD/SCZ_discovery_controls-controlCON0262
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RNU6-1334P,SRY,RNASEH2CP1,TOMM22P2,NAP1L1P2,EEF1A1P41,AGPAT5P1,PRRC2CP1,TGIF2LY,USP12PY,RNF19BPY,RNU6-303P,SERBP1P2,RNU2-57P,VDAC1P6,EIF4A1P2,KRT18P10,SNX3P1Y,RPL26P37,DLGAP5P1,TTTY23B,TSPY2,TSPY11P,TSPY19P,LINC00280,TTTY21B,SRIP3,GOT2P5,AMELY,ATP5PFP1,GPR143P,RN7SKP282,RNU6-941P,RNU6-521P,RBMY2HP,TSPY12P,TTTY12,ZNF92P1Y,BPY2DP,ZNF736P7Y,ZNF736P9Y,TSPY24P,ZNF736P6Y,MTND6P1,MTCYBP1,MTND1P1,MTND2P3,TRIM60P3Y,ZNF736P10Y,LINC00279,TTTY19,OFD1P3Y,CDY3P,USP9YP22,ELOCP4,TTTY20,TSPY8,TSPY7P,FAM197Y6,TSPY3,FAM197Y5,TSPY1,FAM197Y4,TSPY9P,TSPY6P,TSPY10,FAM197Y1,TSPY15P,TSPY25P,TSPY16P,TTTY8,TTTY7B,TTTY21,TTTY22,RBMY2NP,TSPY18P,TSPY13P,TTTY23,RBMY2OP,TSPY20P,TSPY5P,RNA5SP518,RNA5SP519,DUX4L31,PCMTD1P1,RNA5-8SP6,C2orf27AP1,ANKRD20A6P,SNX18P1Y,DUX4L16,DUX4L17,DUX4L18,DUX4L19,PABPC1P5,ACTR3BP1,MTND1P12,RCC2P1,ASS1P6,RPS24P1,RN7SL702P,FAM8A4P,ARSEP1,SHROOM2P1,CDY4P,DPPA2P1,PSMA6P1,TMSB4Y,VCY,VCY1B,PNPLA4P1,AGKP1,MED13P1,CYCSP46,RNU6-109P,RNU6-184P,SURF6P1,ELOCP35,TUBB1P2,RNA5SP520,RNA5SP521,CLUHP1,CDY5P,ACTG1P2,USP9YP23,USP9YP27,RNU1-128P,TRAPPC2P3,OFD1P1Y,ELOCP6,CDY2B,CDY6P,USP9YP7,USP9YP6,CDY7P,USP9YP32,CDY2A,ELOCP12,TRAPPC2P8,USP9YP15,RNU1-95P,USP9YP16,XKRY2,ACTG1P11,ELOCP26,CDY9P,TAF9P2,RNA5SP522,RNA5SP523,TUBB1P1,ELOCP13,RNU1-48P,USP9YP5,XKRYP1,PRYP5,ELOCP7,USP9YP1,GPM6BP1,TTTY9B,RAB9AP4,TRAPPC2P7,GPM6BP2,USP9YP2,ELOCP14,PRYP6,XKRYP2,USP9YP10,USP9YP28,RNU1-41P,MTCYBP2,ZNF839P1,CD24P4,RNU6-255P,GAPDHP19,RCC2P2,ZNF885P,KDM5DP1,HSFY4P,GAPDHP17,TMEM167AP1,TOMM22P1,NEFLP1,PRORY,RBMY2TP,FAM197Y10,TSPY14P,ELOCP5,CDY10P,USP9YP3,USP9YP8,CDY11P,OFD1P16Y,RBMY2AP,HSFY5P,CDY12P,ELOCP15,TTTY6B,RBMY1F,RBMY1KP,TSPY22P,TSPY21P,TTTY6,ELOCP8,CDY13P,USP9YP24,HSFY7P,RBMY2BP,RBMY2WP,TTTY17A,ZNF736P11Y,TRIM60P8Y,ZNF736P3Y,TRIM60P9Y,REREP1Y,USP9YP18,ELOCP16,USP9YP25,RNU1-97P,RAB9AP1,TRAPPC2P9,ELOCP9,CDY15P,XKRYP4,USP9YP12,RNU1-86P,RAB9AP5,ELOCP10,CDY1B,CDY17P,USP9YP35,CDY18P,GOLGA6L11P,CSPG4P2Y,CSPG4P3Y,RN7SL818P,UBE2Q2P4Y,LINC00265-2P,RBMY2XP,TTTY17B,TRIM60P5Y,ZNF736P12Y,TRIM60P10Y,ZNF736P2Y,TRIM60P11Y,ZNF736P5Y,ZNF736P4Y,TTTY17C,RBMY2YP,CICP1,LINC00265-3P,UBE2Q2P5Y,GOLGA2P3Y,RN7SL725P,CSPG4P4Y,CSPG4P1Y,DNM1P48,GOLGA6L16P,CDY19P,USP9YP36,CDY20P,ELOCP34,TRAPPC2P5,RAB9AP2,USP9YP30,RNU1-107P,TTTY3,USP9YP9,USP9YP19,XKRYP5,CDY22P,ELOCP17,TRAPPC2P4,RAB9AP3,USP9YP20,RNU1-40P,ELOCP11,CDY23P,USP9YP26,HSFY8P,REREP2Y,RNU6-1314P,CYCSP48,CYCSP49,CCNQP2,CTBP2P1,ZFY,ZFY-AS1,UBE2V1P3,FAM197Y9,RBMY2GP,TTTY1B,TTTY7,TTTY8B,TSPY17P,TTTY16,ZNF736P8Y,RBMY2JP,RBMY2KP,TTTY18,TTTY11,USP9YP4,RBMY1A3P,TSPY4,FAM197Y8,FAM197Y7,FAM197Y3,FAM197Y2,RBMY3AP,TTTY2,TTTY1,RBMY2QP,CDC27P2,SLC9B1P1,MXRA5Y,ARSFP1,ARSDP1,GYG2P1,MED14P1,TTTY15,DDX3Y,CASKP1,SFPQP1,TAB3P1,NLGN4Y-AS1,PUDPP1,STSP1,FAM41AY1,TAF9P1,PRYP1,XKRY,USP9YP34,CDY8P,PRYP2,CLUHP2,FAM41AY2,OFD1P4Y,HSFY1,OFD1P6Y,OFD1P7Y,BCORP1,TXLNGY,KDM5D,ZNF886P,TTTY10,TBL1YP1,RPS4Y2,RBMY2EP,RBMY1B,RBMY1A1,TTTY13,RBMY1E,OFD1P8Y,USP9YP17,PRY2,TSPY23P,RBMY2UP,TTTY5,RBMY2FP,TTTY25P,PRY,OFD1P9Y,BPY2,DAZ1,DAZ2,PPP1R12BP2,RBMY2CP,HSFY6P,CDY14P,PRYP3,USP9YP29,OFD1P11Y,USP9YP13,USP9YP11,TTTY3B,TRAPPC2P10,USP9YP31,DNM1P24,GOLGA2P2Y,CICP2,LINC00266-2P,TTTY4B,BPY2B,ZNF736P1Y,TTTY4C,LINC00266-4P,USP9YP33,CDY1,OFD1P18Y,USP9YP21,PRYP4,RBMY2DP,ANKRD36P1,TPTE2P4,SLC25A15P1,RPS4Y1,HSFY3P,LINC00278,TTTY2B,TBL1Y,RFTN1P1,XGY1,USP9Y,UTY,ANOS2P,FAM224B,OFD1P2Y,FAM224A,USP9YP14,OFD1P5Y,HSFY2,EIF1AY,RBMY1HP,RBMY1D,RBMY1J,TTTY4,OFD1P10Y,XKRYP3,OFD1P12Y,DAZ3,DAZ4,BPY2C,OFD1P13Y,XKRYP6,OFD1P15Y,PPP1R12BP1,PARP4P1,PCDH11Y,PRKY,NLGN4Y,TTTY14
No Animal Model Data Available