15q24.1-q24.2CNV Type: Deletion
Largest CNV size: 2528039 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Deletion
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion-Duplication
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
ahram_17_ASD/DD/EP_discovery_cases
Six-year-old girl of Arabic ethnic origin born to consanguineous parents presenting with a de novo 15q24.1-q24.2 deletion
1
Case diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS) by ADI-R and ADOS and with developmental delay by CAPTURE (CAT/CLAMS) scale at 42 months of age. Case also presented with epilepsy/seizures (three episodes of generalized tonic-clonic seizures, one of which was febrile) and absent speech.
6 years
Female
2520000
1
0
1
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
3107986
1
1
2
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
2570000
20
10
30
firouzabadi_16_ASD_discovery_cases
Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
15
ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
N/A
N/A
2500000
1
0
1
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
2581551
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
2990649
2
1
3
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
2636695
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
2636696
0
1
1
liu_20_ASD_discovery_cases
Chinese male with a 2.58-Mb de novo deletion at chromosome 15q24
1
Case was diagnosed with autism spectrum disorder according to DSM-IV
6 years
Male
2580679
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
2400000
1
0
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
2528039
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
1553986
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
2570000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
1268640
1
0
1
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
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahram_17_ASD/DD/EP_discovery_cases
Arabic
Solid phase hybridization
Illumina OmniExpress 700K
GenomeStudio V.2011
qRT-PCR
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
firouzabadi_16_ASD_discovery_cases
Iranian
aCGH
BlueGnome CytoChip ISCA 8x60K v2.0
BlueFuse Multi v3
FISH
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
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
liu_20_ASD_discovery_cases
Chinese
Array SNP
Affymetrix 6.0
Affymetrix Command Console v.3.1
RT-qPCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ahram_17_ASD/DD/EP_discovery_cases-case1
6 yrs.
F
ASD (PDD-NOS), developmental delay, and epilepsy
Case diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS) by ADI-R and ADOS and with developmental delay by CAPTURE (CAT/CLAMS) scale at 42 months of age. Birth/neonatal history: delivered at full term by C-section; birth weight of 2700 g. Developmental milestones: sat without support at 8 months, crawled at 10 months, walked at 18 months; two-word vocabulary by the age of 3 years which she has since lost (regression). Language and communication evaluation: non-verbal (absent speech), uses pointing and gestures to communicate with her family. Behavioral/psychiatric evaluation: considerable hyperactivity, communication deficits, abstract thinking, poor interaction with other children, stereotypical patterns of behavior. Epilepsy/seizures: presented with three episodes of generalized tonic-clonic seizures, one of which was febrile, at age of 8 months; treated with valproic acid with good seizure control that prompted its withdrawal after a seizure-free period of 4 years. Dysmorphic features: no demonstrable dysmorphic features or associated congenital anomalies. Growth parameters: head circumference 50.5 cm (50th %ile). Family history: born to consanguineous parents (third cousins); family history positive for a mother with migraine and history of febrile convulsions as a child (both parents otherwise clinically unaffected).
Developmental delay
72672818
75191411
2518594
GRCh38
Deletion
Yes
chaves_24_ASD/DD/ID_discovery_cases-case913
M
ASD
ASD, facial dysmorphism and congenital anomalies.
72607305
75274857
2667553
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case985
F
Developmental delay
Prognathism, clinodactyly, developmental delay, partial syndactyly
72673124
75781109
3107986
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case53
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case54
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case55
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case56
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case57
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case58
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case59
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case60
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case61
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case62
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
72670606
75240606
2570001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case63
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case64
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case65
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case66
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case67
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case68
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case69
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case70
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case71
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case72
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case73
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case74
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case75
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case76
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case77
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case78
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case79
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case80
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case81
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
coe_14_ASD/DD/ID_discovery_cases-case82
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
73720606
75240606
1520001
GRCh38
Duplication
No
firouzabadi_16_ASD_discovery_cases-patient1
18 yrs.
M
ASD
Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: aggressive behavior. Epilepsy/seizures: seizures. Dysmorphic features: dysmorphic facial features. Growth parameters: macrocephaly. Note: CNV locus given as 15q23-q24.1 on UCSC Genome Browser using start and end points reported in report.
Intellectual disability
70458714
73030013
2571300
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case0813
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0814
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0815
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0816
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0817
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0818
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0819
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0820
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0821
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0822
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0823
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0824
NA
NA
Developmental delay
NA
NA
74070606
75680604
1609999
GRCh38
Duplication
NA
han_22_ASD/DD/ID_discovery_cases-caseY80
2 yrs. 6 mos.
M
ASD
72670943
75252493
2581551
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001082
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72671629
75662276
2990648
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005287
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72629028
75242989
2613962
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005301
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74106871
75727625
1620755
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1825
41 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
72640623
75277317
2636695
GRCh38
Duplication
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1825
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
72640622
75277317
2636696
GRCh38
Duplication
Yes
liu_20_ASD_discovery_cases-case1
6 yrs.
M
ASD
Case was diagnosed with ASD according to DSM-IV. Birth/neonatal history: born by Caesarean section at term; birth weight 3.45 kg. Developmental milestones: sat without support at 8 months, started to walk at 18 months; speech delay (no speech at 2.5 years). Language and communication evaluation: able to speak two words ("mama" and "papa") at 6 years. Motor and musculoskeletal evaluation: pes planus, pigeon-toed in left foot, uncoordinated movements. Behavioral/psychiatric evaluation: poor eye contact, lack of facial expression and initiative response, hyperactivity, stereotypy (repetitive pacing, rocking in circles). EEG: normal. Brain imaging: normal. Auditory evaluation: hearing loss in left ear. Dysmorphic features: none reported. Family history: first child of healthy unrelated parents of Chinese ethnicity; no reported family history of neuropsychiatric disease.
72671803
75252481
2580679
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown43
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
72709730
75141828
2432099
GRCh38
Deletion
No
rosenfeld_10_ASD_discovery_cases-case28827
NA
NA
ASD
NA
NA
70794484
73322523
2528039
Unknown
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case348
NA
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, facial dysmorphism.
Severe intellectual disability
73411543
74965528
1553986
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
N/A
N/A
Control
No previous psychiatric history
74882685
76151323
1268639
GRCh38
Deletion
No
wang_10_ASD_discovery_controls-Aut10
48
M
Control
NA
NA
72703695
75236841
2533147
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahram_17_ASD/DD/EP_discovery_cases-case1
qRT-PCR
De novo
Simplex
Likely segregated
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
chaves_24_ASD/DD/ID_discovery_cases-case913
Unknown
BBS4,CLK3,FKBP1AP2,CYP1A2,CYP11A1,CSK,CYP1A1,NPTN,RPP25,PPCDC,GOLGA6B,C15orf39,FAM219B,ISLR2,STRA6,LMAN1L,ADPGK,EDC3,CD276,CCDC33,UBL7,HIGD2B,TBC1D21,SCAMP5,ISLR,REC114,GOLGA6A,MRPS15P1,INSYN1,RPL36AP45,UBL7-DT,CPLX3,DNM1P33,GOLGA6C,PPIAP46,COMMD4P2,NPM1P42,NIFKP4,NEO1,MPI,LOXL1,LOXL1-AS1,ADPGK-AS1,NPM1P43,MIR4513,NPTN-IT1,PML,INSYN1-AS1,MIR6882,MIR6881,LINC02259,LINC02255,RN7SL429P,RN7SL853P,RN7SL489P,SEMA7A,STOML1,HCN4,SCAMP2,COX5A,ARID3B,ULK3
chaves_24_ASD/DD/ID_discovery_cases-case985
Unknown
BBS4,CLK3,FKBP1AP2,CYP1A2,CYP11A1,CSK,CYP1A1,CSPG4,NPTN,IMP3,COMMD4,RPP25,PPCDC,C15orf39,FAM219B,ISLR2,NEIL1,STRA6,LMAN1L,ADPGK,EDC3,CD276,CCDC33,UBL7,HIGD2B,TBC1D21,ODF3L1,SCAMP5,ISLR,REC114,SNX33,GOLGA6A,MRPS15P1,INSYN1,PPIAP47,RPL36AP45,UBL7-DT,CPLX3,DNM1P33,ANP32BP1,GOLGA6D,MIR631,GOLGA6C,RPL13P4,DNM1P34,PPIAP46,COMMD4P2,NPM1P42,NIFKP4,DNM1P35,NEO1,MPI,MAN2C1,LOXL1,LOXL1-AS1,ADPGK-AS1,NPM1P43,MIR4313,MIR4513,NPTN-IT1,PTPN9,PML,INSYN1-AS1,MIR6882,MIR6881,LINC02255,RN7SL429P,RN7SL489P,RN7SL327P,SEMA7A,STOML1,SNUPN,HCN4,SCAMP2,COX5A,ARID3B,ULK3,SIN3A
coe_14_ASD/DD/ID_discovery_cases-case53
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case54
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case55
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case56
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case57
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case58
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case59
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case60
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case61
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case62
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case63
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case64
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case65
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case66
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case67
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case68
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case69
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case70
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case71
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case72
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case73
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case74
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case75
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case76
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case77
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case78
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case79
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case80
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case81
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
coe_14_ASD/DD/ID_discovery_cases-case82
Unknown
Unknown
DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
firouzabadi_16_ASD_discovery_cases-patient1
FISH
De novo
Simplex
Likely segregated
LINC02205,SALRNA3,SALRNA2,RPL29P30,KRT8P9,THAP10,RPL5P3,CT62,HMGB1P6,RNA5SP399,EIF5A2P1,RNU2-65P,HEXA-AS1,RPL12P35,PHBP20,MIR630,RN7SL853P,NPM1P42,LINC02204,UACA,LARP6,NR2E3,SENP8,GRAMD2A,PARP6,CELF6,TMEM202,TMEM202-AS1,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,LRRC49,THSD4-AS1,MYO9A,PKM,ARIH1,LINC02259,THSD4,HEXA
girirajan_12_ASD/DD/ID_discovery_cases-case0813
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0814
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0815
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0816
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0817
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0818
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0819
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0820
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0821
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0822
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0823
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
girirajan_12_ASD/DD/ID_discovery_cases-case0824
NA
Unknown
Unknown
Unknown
RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
han_22_ASD/DD/ID_discovery_cases-caseY80
De novo
BBS4,CLK3,FKBP1AP2,CYP1A2,CYP11A1,CSK,CYP1A1,NPTN,RPP25,PPCDC,C15orf39,FAM219B,ISLR2,STRA6,LMAN1L,ADPGK,EDC3,CD276,CCDC33,UBL7,HIGD2B,TBC1D21,SCAMP5,ISLR,REC114,GOLGA6A,MRPS15P1,INSYN1,RPL36AP45,UBL7-DT,CPLX3,DNM1P33,PPIAP46,COMMD4P2,NPM1P42,NIFKP4,NEO1,MPI,LOXL1,LOXL1-AS1,ADPGK-AS1,NPM1P43,MIR4513,NPTN-IT1,PML,INSYN1-AS1,MIR6882,MIR6881,LINC02255,RN7SL429P,SEMA7A,STOML1,HCN4,SCAMP2,COX5A,ARID3B,ULK3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001082
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005287
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,LINC02259,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005301
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,MAN2C1,UBL7,PTPN9
kushima_18_SCZ_discovery_cases-caseSCZ1825
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
Unknown
Unknown
RN7SL853P,NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,RN7SL489P,GOLGA6B,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,GOLGA6C,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
kushima_22_SCZ_discovery_cases-caseSCZ1825
qRT-PCR
Unknown
BBS4,CLK3,FKBP1AP2,CYP1A2,CYP11A1,CSK,CYP1A1,NPTN,RPP25,PPCDC,GOLGA6B,C15orf39,FAM219B,ISLR2,STRA6,LMAN1L,ADPGK,EDC3,CD276,CCDC33,UBL7,HIGD2B,TBC1D21,SCAMP5,ISLR,REC114,GOLGA6A,MRPS15P1,INSYN1,RPL36AP45,UBL7-DT,CPLX3,DNM1P33,GOLGA6C,PPIAP46,COMMD4P2,NPM1P42,NIFKP4,NEO1,MPI,LOXL1,LOXL1-AS1,ADPGK-AS1,NPM1P43,MIR4513,NPTN-IT1,PML,INSYN1-AS1,MIR6882,MIR6881,LINC02255,RN7SL429P,RN7SL853P,RN7SL489P,SEMA7A,STOML1,HCN4,SCAMP2,COX5A,ARID3B,ULK3
liu_20_ASD_discovery_cases-case1
RT-qPCR
De novo
Simplex
Segregated
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,COMMD4P2,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,NIFKP4,HIGD2B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,SCAMP5,PPCDC,UBL7
maini_18_ASD/DD/ID_discovery_cases-case_unknown43
De novo
Unknown
Unknown
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
rosenfeld_10_ASD_discovery_cases-case28827
FISH
Unknown
Unknown
Unknown
BBS4,ADPGK,NEO1,HCN4,C15orf60,NPTN,CD276,C15orf59,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,ISLR,STRA6,CCDC33,CYP11A1,SEMA7A,UBL7,ARID3B,CLK3,EDC3,CYP1A1,CYP1A2,CSK,LMAN1L,CPLX3,ULK3,SCAMP2,MPI,C15orf17,COX5A,RPP25,SCAMP5,PPCDC,C15orf39
streata_22_ASD/DD/ID_discovery_cases-case348
CMA, karyotyping, and/or MLPA
De novo
CLK3,CYP1A2,CYP11A1,CSK,CYP1A1,NPTN,RPP25,FAM219B,ISLR2,STRA6,LMAN1L,EDC3,CD276,CCDC33,UBL7,TBC1D21,SCAMP5,ISLR,REC114,GOLGA6A,MRPS15P1,INSYN1,UBL7-DT,CPLX3,DNM1P33,PPIAP46,COMMD4P2,MPI,LOXL1,LOXL1-AS1,MIR4513,NPTN-IT1,PML,INSYN1-AS1,MIR6882,MIR6881,LINC02255,RN7SL429P,SEMA7A,STOML1,SCAMP2,COX5A,ARID3B,ULK3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
Unknown
FAM219B,RPL36AP45,NIFKP4,RN7SL489P,RN7SL327P,ANP32BP1,COMMD4,MIR631,RPL13P4,DNM1P35,PPIAP47,MIR4313,RN7SL319P,RN7SL510P,MPI,COX5A,RPP25,C15orf39,GOLGA6C,GOLGA6D,DNM1P34,NEIL1,SIN3A,SNUPN,IMP3,SNX33,CSPG4,ODF3L1,DNM1P49,FBXO22,SCAMP5,PPCDC,MAN2C1,UBE2Q2,NRG4,TMEM266,PTPN9
wang_10_ASD_discovery_controls-Aut10
Unknown
NA
NA
NPM1P42,FKBP1AP2,NPM1P43,MRPS15P1,NPTN-IT1,DNM1P33,RN7SL429P,ISLR,PPIAP46,MIR6881,CYP1A1,CYP1A2,MIR4513,CPLX3,MIR6882,FAM219B,RPL36AP45,BBS4,ADPGK,ADPGK-AS1,HCN4,NPTN,CD276,INSYN1,INSYN1-AS1,TBC1D21,LOXL1,STOML1,PML,GOLGA6A,ISLR2,CYP11A1,LINC02255,SEMA7A,UBL7-AS1,CLK3,EDC3,CSK,LMAN1L,SCAMP2,MPI,COX5A,RPP25,C15orf39,NEO1,REC114,LOXL1-AS1,STRA6,CCDC33,ARID3B,ULK3,SCAMP5,PPCDC,UBL7
No Animal Model Data Available