15q11.2-q13.3CNV Type: Duplication
Largest CNV size: 11922600 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with develop...
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
9668861
0
2
2
al_ageeli_13_ASD/DD/ID/EP_discovery_cases
Unrelated patients with duplications within the 15q11-q13 region, seen in the genetic department of Robert DEBRE hospital (France) between 2000 and 2012
30
Most common features of this cohort: developmental delay (77%), speech delay (93%), learning disabilities (93%), behavioral disturbances (77%), autism/ASD (74%), epilepsy/seizures (40%), and minor facial dysmorphic features (40%).
Range, 4 mos.-30 yrs. (mean 8.8; median 7)
66.67% Male
N/A
0
1
1
bernardo_19_ASD/DD/EP_discovery_cases
31-year-old woman born to healthy unrelated parents with unremarkable family history with a de novo inversion duplication of 15q11.2-q13.3
1
Case diagnosed with high-functioning autism (assessment using ADOS-Module 4), with additional assessment for adaptive skills using the Vineland Adaptive Behavior Scales and cognitive function using the Standard Progressive Matrices of Raven; case also presented with developmental delay and epilepsy.
31 years
Female
11590000
0
1
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
10025108
0
2
2
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
10595223
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
10923425
0
4
4
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
9197402
0
1
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
8832348
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
11733188
0
4
4
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
9709447
0
1
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
9705075
0
1
1
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
8744032
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
11922600
0
2
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
10134000
0
1
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
9958555
0
2
2
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
12400000
0
1
1
yang_13_DD/ID_discovery_cases
Two patients enrolled in a large study of genomic aberrations in patients with developmental delays and intellectual disabilities at the Children's Hospital of Chongqing Medical University, Chongqing, China.
2
Developmental delay/intellectual disability (DD/ID) and behavioral problems
Range, 5-9 yrs.
Male
10610000
0
2
2
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
10189162
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
10251499
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
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
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
al_ageeli_13_ASD/DD/ID/EP_discovery_cases
N/A
FISH, MLPA, aCGH, solid phase hybridization
Agilent 180K, Illumina Human Cyto SNP-12 V2-3
ADM-2
Agilent CGH Analytcs, Illumina GenomeStudio v2011.1, CNVPartition 3.1.6
None
bernardo_19_ASD/DD/EP_discovery_cases
Italy
aCGH
Agilent 4x44K
FISH
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
yang_13_DD/ID_discovery_cases
Han Chinese
Karyotyping, array SNP
Affymetrix Cytoscan HD
HMM
Affymetrix GeneChip Command Console, Affymetrix ChAS
FISH
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
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
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG1086
N/A
M
Developmental delay
Developmental delay with dysmorphic features, microcephaly, short stature, talipes equinovarus of the left foot (Triplication of 15q11 15q13). Parents from same region.
Developmental delay
23319714
32147080
8827367
GRCh38
Triplication
No
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient25
8.5 yrs.
M
Intellectual disability
Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: speech delay; age of sitting, N/A; age of walking, 13 months. Language and communication evaluation: no verbal communication. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: behavioral disturbances (no eye-to-eye contact, anxiety & autoaggressivity). Epilepsy/seizures: none reported. EEG: normal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 55 cm (1.5 SD), weight of 53 kg (7.5 SD), and height of 134 cm (1 SD) at age of 8.5 years. Family history: maternal age at birth, 37.5 yrs.; paternal age at birth, 44 yrs.
Intellectual disability, learning disability
BP1 (precise start not provided)
BP5 (precise end not provided)
N/A
Unknown
Duplication
No
bernardo_19_ASD/DD/EP_discovery_cases-case1
31 yrs.
F
ASD, DD, and epilepsy
Case diagnosed with high-functioning autism [assessment using ADOS-Module 4 demonstrated scores above the cut-off for autism on language and communication (score of 5, cut-off 3), reciprocal social interaction (score of 8, cut-off 6) and total (score of 13, cut-off 6)]. Evaluation using the Vineland Adaptive Behavior Scales demonstrated deficits in communication skills (equivalent age scores for receptive, expressive, and written were 12 years 2 months, 13 years 3 months, and 15 years, respectively), daily living skills (equivalent age scores for personal, domestic, and community were 4 years 5 months, 3 years 9 months, and 2 years 9 months, respectively), and socialization skills (equivalent age scores for interpersonal relationships, play and leisure time, and coping skills were 3 years 6 months, 1 year 9 months, and 7 years 1 month, respectively). Birth/neonatal history: born at term after uneventful pregnancy. Developmental milestones: mild delay in psychomotor milestones (started walking at 17 months); mild delay in gross and fine motor development; delayed speech and language development (delay in cooing vocalization and canonical babbling, first words at 3 years of age). Language and communication evaluation: preserved language abilities with well-structured verbal expression and usage of full sentences with appropriate grammatical structure; repetitions with accentuation of the letter "R", language sometimes associated with lively and empathic gestures; monotonous speech with occasional high-pitched whine, abnormalities of intonation, speech velocity and rhythm; simplistic oral comprehension.Motor and musculoskeletal evaluation: wide-based gait. Behavioral/psychiatric evaluation: sleep disturbance (parasomnias and difficulties in falling and remaining asleep) and hyperactivity early in life; excessively repetitive and limited interests and stereotypies (hand flapping and washing, body rocking, head nodding, unusual posturing, repetitive object manipulation), difficulties making interactive conservations and keeping friendships, indifferent to peers and indiscriminately affectionate towards people, eye gaze avoidance and limited facial expressiveness, poor interest in social interactions. Epilepsy/seizures: generalized tonic-clonic seizures with onset at 24 years. EEG: normal at 25 years. Brain imaging: normal brain MRI at 25 years. Dysmorphic features: full lips, almond-shaped eyes, mild epicanthus, large nasal bridge. Growth parameters: hieght 25th %ile. Family history: born to healthy unrelated parents; family history was medically unremarkable.
Learning difficulties (able to graduate from high school with support); evaluation of cognitive function using Standard Progressive Matrices of Raven resulted in borderline range of her age (IQ 75)
20643808
32146742
11502935
GRCh38
Duplication
Yes
chaves_24_ASD/DD/ID_discovery_cases-case620
F
Intellectual disability
Short stature. Karyotype: 46,XX +mar.
Severe intellectual disability
22598415
32623522
10025108
GRCh38
Triplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299971
N/A
M
Developmental delay/intellectual disability
22030967
32621939
10590973
GRCh38
Duplication
Yes
guo_17_ASD_discovery_cases-caseM15042
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
21977698
32610944
10633247
GRCh38
Triplication
Yes
guo_17_ASD_discovery_cases-caseM16079
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
22260455
32421205
10160751
GRCh38
Triplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-180-03
N/A
F
ASD
22954323
32151725
9197403
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case15D3321
2 yrs. 1 mo.
F
Developmental delay
23319713
32152060
8832348
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001066
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23319714
32607357
9287644
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003926
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23319714
32607498
9287785
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004607
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23319714
32607498
9287785
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005093
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20002460
32121422
12118963
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0997
31 yrs.
M
ASD, ID, epilepsy/seizures
Developmental milestones: langauge delay, motor delay. Behavioral/psychiatric evaluation: sensory hypersensitivity, self-mutilation, agitated behaviors. Epilepsy/seizures: positive for epileptic seizures/epilepsy. Congenital and developmental phenotypes: preterm birth. Family history: negative.
Intellectual disability (IQ < 70)
22420897
32130343
9709447
GRCh38
Duplication
N/A
kushima_22_ASD_discovery_cases-caseASD0997
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
22425269
32130343
9705075
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case146
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
23319713
32063744
8744032
GRCh38
Duplication
No
mahjani_21_ASD_discovery_cases-case152
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
25201319
32327926
7126608
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0073-003
NA
F
ASD
RL/EL moderate delay, severe repetitive behavior
IQ/LOF 49
19910933
32219307
12308375
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0245-005
NA
M
ASD
RL/EL severe delay, severe repetitive behavior
IQ/LOF 47
19961833
32219354
12257522
GRCh38
Duplication
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case85
11 yrs.
F
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD
23319714
32607357
9287644
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case28
NA
M
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
22598414
32126678
9528265
GRCh38
Duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case40
NA
F
ASD and intellectual disability
Autism spectrum disorder.
Mild/moderate intellectual disability
22181371
32139925
9958555
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case37
M
ASD
Downslanted palpebral fissures, small anteverted nares, absence of speech, ASD
19897288
32662734
12765447
GRCh38
Duplication
No
yang_13_DD/ID_discovery_cases-patient1
5 yrs.
M
Developmental delay/intellectual disability and behavioral problems
Patient karyotype: 47, XY+rea(15)(q11); patient has supernumerary chromosome 15 (SMC15) consisting of two copies of 15q11.2-q13.2 and one copy of 15q11.2-q13.3. Birth/neonatal history: uneventful pregnancy; birth weight 3rd %ile, length 25th %ile, OFC 25th %ile; resuscitation performed at birth due to suffocation of unknown cause; no signs of asphyxia, jaundice, feeding problems, infections, or other problems reported in post-natal follow-up. Developmental milestones: head control at 3 months, standing with aid at 1 year, walking at 2 years, started saying simple words at 2 years, monosyllabic speech at 5 years. Language and communication evaluation:. Motor and musculoskeletal evaluation: moderate hypotonia in lower extremities, inability to stand on one foot or to run; evaluation with Gross Motor Function Measures yielded scores for lying and rolling of 97, for crawling and kneeling of 77, for sitting of 100, for standing of 79, and for walking of 67. Behavioral/psychiatric evaluation: behavioral problems started at 2 years; evaluation at 5 years showed aggression, short temper, tendency toward outbursts and being angry, hyperactivity, impulsivity, failure to follow instructions and rules, destructiveness, difficulties in focusing and failure to finish tasks, ease of getting into fights with peers, failure to do well in group activities. EEG: normal. Brain imaging: normal cranial CT. Dysmorphic features: slight microcephaly, thin upper lip, periauricular fistula, hypertelorism. Growth parameters:. Family history: born to healthy non-consanguineous couple (mother was 25 years of age and had no history of miscarriages, father was 28); unremarkable family history.
Evaluation with Gesell Developmental Observation at 5 years old: social adaptive skills, 20 months; organization skills, 15 months; motor skills, 18 months; language skills, 19 months.
23319714
32119428
8799715
GRCh38
Duplication
Yes
yang_13_DD/ID_discovery_cases-patient2
9 yrs.
M
Developmental delay/intellectual disability and behavioral problems
Patient karyotype: 47, XY+invdup(15)(q11q13); patient has supernumerary chromosome 15 (SMC15) consisting of one copy of 15q11.2-q13.1 and one copy of 15q11.2-q13.3. Birth/neonatal history: uneventful pregnancy and delivery; birth weight 75th %ile, length 50th %ile, head circumference 50th %ile. Developmental milestones: did not walk until 2 years old, said simple words at 3, started to play with peers at 4. Langauge and communication evaluation: spoke simple sentences, unable to repeat stories. Motor and musculoskeletal evaluation: difficulties in standing straight and joint laxity at age of 8 years; no problems in walking and running at 9 years. Behavioral/psychiatric evaluation: behavioral problems began at age of 2 years; did not like to join group activities, tendency towards aggression and destructiveness. EEG: normal. Brain imaging: normal cranial CT. Dysmorphic features: hypertelorism, slightly anteverted nares, low-set ears, pathic facial expression. Growth parameters: weight of 31.5 kg (95th %ile), height of 125 cm (50th %ile), and head circumference of 53 cm (75th %ile) at 9 years. Family history: born to unrelated parents (mother 34 years of age, father 29 years of age).
Evaluation with WISC-IV at 9 years of age: verbal comprehension, 45; perceptual reasoning, 40; working memory, 50; processing speed, 46; full-scale IQ, 41.
21849316
32126216
10276901
GRCh38
Duplication
Yes
yap_21_ASD_discovery_cases-case4406214
NA
F
ASD and epilepsy/seizures
Obesity, history of seizures, head circumference within 2-50th %ile.
Unable to complete WASI due to distress and aggression
22033738
32222899
10189162
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0073-003
N/A
F
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A. Additional genetic information: 47, XX, idic(15)(q13).
23319714
32605799
9286086
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG1086
Unknown
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient25
De novo, maternal chromosome
NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2, APBA2, NDNL2, TJP1, CHRFAM7A, FAN1, TRPM1, KLF13, CHRNA7
bernardo_19_ASD/DD/EP_discovery_cases-case1
FISH
De novo
Simplex
Segregated
RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,HERC2P10,MTMR10,KLF13,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,ARHGAP11B,FAN1,TRPM1,OTUD7A,CHRNA7,LINC01193,PWRN1,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
chaves_24_ASD/DD/ID_discovery_cases-case620
Unknown
APBA2,CHRNA7,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,NIPA2,CHRFAM7A,ULK4P3,ARHGAP11B,ULK4P1,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,SYNGR2P1,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,SNORD64,HERC2P10,WHAMMP2,MIR211,HERC2P9,LINC00929,DNM1P31,PDCD6IPP2,GOLGA8N,RPL5P1,GOLGA8Q,GOLGA8J,GOLGA8O,SNORD116-19,GOLGA6L7,HMGN2P5,ABCB10P3,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,GOLGA8K,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,DNM1P32,ULK4P2,RPL5P32,DMAC1P1,NCAPGP2,MIR4508,MIR4509-1,MIR4509-2,GOLGA8UP,MIR4509-3,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR4715,HERC2P11,SNORD115-46,SNORD116-30,LINC02256,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,RN7SL495P,RN7SL185P,RN7SL286P,RN7SL196P,RNU6-18P,RN7SL106P,TJP1,UBE3A,SNRPN,RN7SL539P,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RN7SL238P,RN7SL719P,RN7SL673P,RN7SL82P,RNU6-466P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,ARHGAP11A,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
digregorio_17_DD/ID_discovery_cases-DECIPHER_299971
qPCR
De novo
OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
guo_17_ASD_discovery_cases-caseM15042
qPCR
De novo
OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
guo_17_ASD_discovery_cases-caseM16079
qPCR
De novo
SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
guo_18_ASD/DD/ID_discovery_cases-caseBK-180-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
han_22_ASD/DD/ID_discovery_cases-case15D3321
De novo
APBA2,CHRNA7,KLF13,MTMR10,MAGEL2,NSMCE3,ATP10A,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,SYNGR2P1,UBE2CP4,GOLGA8G,GOLGA6L2,SNORD109A,SNORD108,SNORD109B,SNORD115-1,SNORD64,HERC2P10,WHAMMP2,MIR211,HERC2P9,LINC00929,PDCD6IPP2,RPL5P1,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,HMGN2P5,ABCB10P3,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,DNM1P28,ULK4P2,RPL5P32,DMAC1P1,NCAPGP2,MIR4508,MIR4509-2,GOLGA8UP,MIR4509-3,RNA5SP390,RNA5SP391,MIR4715,HERC2P11,SNORD115-46,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,RN7SL196P,TJP1,UBE3A,SNRPN,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RN7SL238P,RN7SL719P,RN7SL673P,RN7SL82P,RNU6-466P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,LINC02249,FAN1,NPAP1,FAM189A1,RPL41P2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001066
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003926
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004607
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005093
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
kushima_18_ASD_discovery_cases-caseASD0997
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
Simplex
Unknown
RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
kushima_22_ASD_discovery_cases-caseASD0997
qRT-PCR
Unknown
APBA2,CHRNA7,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,NIPA2,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,SYNGR2P1,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,SNORD64,HERC2P2,HERC2P10,GOLGA8EP,WHAMMP2,MIR211,GOLGA6L22,HERC2P9,LINC00929,PDCD6IPP2,RPL5P1,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,HMGN2P5,ABCB10P3,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,HERC2P7,ULK4P2,RPL5P32,DMAC1P1,NCAPGP2,MIR4508,MIR4509-1,MIR4509-2,GOLGA8UP,MIR4509-3,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR4715,HERC2P11,SNORD115-46,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,RN7SL495P,RN7SL196P,RN7SL106P,TJP1,UBE3A,SNRPN,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RN7SL238P,RN7SL719P,RN7SL673P,RN7SL82P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
mahjani_21_ASD_discovery_cases-case146
Unknown
APBA2,CHRNA7,KLF13,MTMR10,MAGEL2,NSMCE3,ATP10A,SNORD107,ULK4P3,CHRFAM7A,ARHGAP11B,PWAR1,OTUD7A,GABRG3,GABRA5,GABRB3,UBE2CP4,GOLGA6L2,GOLGA8G,SYNGR2P1,SNORD108,SNORD109A,SNORD109B,SNORD115-1,SNORD64,HERC2P10,WHAMMP2,HERC2P9,MIR211,LINC00929,RPL5P1,PDCD6IPP2,GOLGA8M,GOLGA8S,GOLGA8H,GOLGA8T,HMGN2P5,DNM1P30,GOLGA6L7,GOLGA8Q,ABCB10P3,SNORD116-19,GOLGA8J,SNORD115-45,SNORD115-18,SNORD115-17,SNORD116-7,SNORD116-20,SNORD116-2,SNORD115-7,SNORD116-13,SNORD115-29,SNORD115-24,SNORD116-16,SNORD115-31,SNORD116-24,SNORD115-3,SNORD115-14,SNORD115-44,SNORD116-3,SNORD115-23,SNORD115-35,SNORD116-10,SNORD115-16,SNORD115-19,SNORD115-34,SNORD116-12,SNORD115-12,SNORD116-23,SNORD115-8,SNORD115-43,SNORD116-21,SNORD115-39,SNORD115-28,SNORD116-11,SNORD116-9,SNORD115-21,SNORD115-32,SNORD116-18,SNORD116-29,SNORD115-33,SNORD116-27,SNORD116-25,SNORD115-6,SNORD116-6,SNORD116-5,SNORD116-28,SNORD115-41,SNORD115-9,SNORD115-2,SNORD115-38,SNORD115-42,SNORD116-1,SNORD115-10,SNORD116-15,SNORD115-37,SNORD115-36,SNORD115-22,PWRN1,SNORD116-14,SNORD115-5,SNORD116-17,SNORD115-26,SNORD115-25,SNORD115-11,SNORD115-47,SNORD116-4,PWRN2,DEPDC1P1,SNORD115-4,SNORD115-30,SNORD115-48,SNORD116-8,SNORD116-26,SNORD116-22,SNORD115-40,SNORD115-13,SNORD115-27,SNORD115-20,SNORD115-15,LINC02346,TVP23BP1,NDN,OCA2,TRPM1,DNM1P28,GOLGA8F,ABCB10P4,ULK4P2,DMAC1P1,RPL5P32,NCAPGP2,MIR4508,GOLGA8UP,MIR4509-2,MIR4509-3,MIR4715,RNA5SP391,RNA5SP390,SNORD116-30,SNORD115-46,HERC2P11,TUBBP8,GOLGA8R,DNM1P50,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,ATP10A-DT,PWRN4,LINC02250,RN7SL196P,TJP1,SNRPN,UBE3A,RN7SL628P,RNU6-741P,RN7SL673P,RN7SL238P,RN7SL719P,RNU6-17P,RN7SL469P,RN7SL536P,RN7SL82P,RNU6-466P,LINC02248,RN7SL796P,HERC2,HERC2P6,PWAR5,HERC2P1,SNURF,MKRN3,LINC02249,NPAP1,FAN1,FAM189A1,RPL41P2
mahjani_21_ASD_discovery_cases-case152
Unknown
APBA2,CHRNA7,KLF13,MTMR10,NSMCE3,ATP10A,ULK4P3,CHRFAM7A,ARHGAP11B,OTUD7A,GABRG3,GABRA5,GABRB3,UBE2CP4,GOLGA8G,SYNGR2P1,SNORD109B,HERC2P10,WHAMMP2,HERC2P9,MIR211,LINC00929,PDCD6IPP2,GOLGA8M,GOLGA8H,GOLGA8T,HMGN2P5,DNM1P30,GOLGA6L7,GOLGA8Q,ABCB10P3,GOLGA8J,SNORD115-45,SNORD115-18,SNORD115-17,SNORD115-29,SNORD115-24,SNORD115-31,SNORD115-44,SNORD115-23,SNORD115-35,SNORD115-19,SNORD115-34,SNORD115-43,SNORD115-39,SNORD115-28,SNORD115-21,SNORD115-32,SNORD115-33,SNORD115-41,SNORD115-38,SNORD115-42,SNORD115-37,SNORD115-36,SNORD115-22,SNORD115-26,SNORD115-25,SNORD115-47,DEPDC1P1,SNORD115-30,SNORD115-48,SNORD115-40,SNORD115-27,SNORD115-20,LINC02346,TVP23BP1,OCA2,TRPM1,DNM1P28,GOLGA8F,ABCB10P4,ULK4P2,RPL5P32,NCAPGP2,GOLGA8UP,MIR4509-2,MIR4509-3,MIR4715,RNA5SP391,RNA5SP390,SNORD115-46,HERC2P11,TUBBP8,GOLGA8R,DNM1P50,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,ATP10A-DT,LINC02250,RNU6-18P,RN7SL196P,TJP1,UBE3A,RN7SL628P,RN7SL673P,RN7SL238P,RN7SL719P,RNU6-17P,RN7SL469P,RN7SL82P,RNU6-466P,LINC02248,RN7SL796P,HERC2,HERC2P1,LINC02249,FAN1,FAM189A1,RPL41P2
marshall_08_ASD_discovery_cases-SK0073-003
qPCR, qmPCR
De novo
CHR
NA
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
marshall_08_ASD_discovery_cases-SK0245-005
qPCR, qmPCR
De novo
Simplex-CHR
NA
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
sansovic_17_DD/ID/ASD_discovery_cases-case85
De novo
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
streata_22_ASD/DD/ID_discovery_cases-case28
CMA, karyotyping, and/or MLPA
De novo
APBA2,CHRNA7,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,NIPA2,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,SYNGR2P1,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,SNORD64,HERC2P10,WHAMMP2,MIR211,HERC2P9,LINC00929,PDCD6IPP2,RPL5P1,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,HMGN2P5,ABCB10P3,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,ULK4P2,RPL5P32,DMAC1P1,NCAPGP2,MIR4508,MIR4509-1,MIR4509-2,GOLGA8UP,MIR4509-3,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR4715,HERC2P11,SNORD115-46,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,RN7SL495P,RN7SL196P,RN7SL106P,TJP1,UBE3A,SNRPN,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RN7SL238P,RN7SL719P,RN7SL673P,RN7SL82P,RNU6-466P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
streata_22_ASD/DD/ID_discovery_cases-case40
CMA, karyotyping, and/or MLPA
De novo
APBA2,CHRNA7,IGHV4OR15-8,KLF13,MTMR10,MAGEL2,ABCB10P1,NSMCE3,ATP10A,NIPA2,CHRFAM7A,ULK4P3,ARHGAP11B,SNORD107,NIPA1,TUBGCP5,PWAR1,OTUD7A,GABRA5,GABRB3,GABRG3,GOLGA8IP,SYNGR2P1,UBE2CP4,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,SNORD64,HERC2P2,HERC2P10,GOLGA8EP,WHAMMP2,MIR211,GOLGA6L22,HERC2P9,LINC00929,SPATA31E3P,PDCD6IPP2,IGHV1OR15-4,RPL5P1,GOLGA8Q,GOLGA8J,SNORD116-19,GOLGA6L7,HMGN2P5,ABCB10P3,GOLGA8S,GOLGA8M,GOLGA8H,GOLGA8T,DNM1P30,SNORD116-29,PWRN2,SNORD116-26,SNORD116-27,SNORD115-3,SNORD115-13,SNORD115-40,SNORD115-28,SNORD115-9,SNORD115-5,SNORD116-1,SNORD115-32,SNORD115-44,SNORD116-16,ELMO2P1,SNORD115-20,SNORD115-6,SNORD115-41,SNORD115-34,SNORD115-48,SNORD115-15,SNORD115-18,SNORD115-27,SNORD116-9,SNORD115-45,SNORD116-10,SNORD115-24,SNORD116-17,SNORD116-11,SNORD116-22,SNORD115-23,SNORD115-29,SNORD115-7,SNORD116-14,SNORD115-35,SNORD116-8,SNORD115-31,SNORD116-5,SNORD115-17,SNORD115-22,SNORD116-12,SNORD116-20,SNORD115-43,SNORD115-11,SNORD115-38,SNORD116-21,SNORD115-42,SNORD116-15,SNORD115-33,SNORD116-4,PWRN1,SNORD115-12,SNORD116-7,SNORD116-24,SNORD115-47,SNORD115-21,SNORD116-28,SNORD116-23,SNORD115-39,SNORD115-8,SNORD116-2,SNORD115-16,SNORD116-18,SNORD115-4,SNORD115-19,DEPDC1P1,SNORD115-30,SNORD115-25,SNORD115-26,SNORD115-36,SNORD115-10,SNORD115-14,SNORD115-37,SNORD116-13,SNORD115-2,SNORD116-6,SNORD116-3,SNORD116-25,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,DNM1P28,HERC2P7,ULK4P2,RPL5P32,DMAC1P1,MIR1268A,NCAPGP2,MIR4508,MIR4509-1,MIR4509-2,GOLGA8UP,MIR4509-3,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR4715,HERC2P11,SNORD115-46,SNORD116-30,TUBBP8,DNM1P50,GOLGA8R,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,ARHGAP11B-DT,LINC02250,PWRN4,ATP10A-DT,RN7SL495P,RN7SL196P,RN7SL106P,TJP1,UBE3A,SNRPN,RNU6-741P,RN7SL628P,RN7SL469P,RNU6-17P,RN7SL536P,RN7SL238P,RN7SL719P,RN7SL673P,RN7SL82P,RNU6-466P,RN7SL545P,LINC02248,RN7SL796P,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,LINC02249,CYFIP1,FAN1,NPAP1,FAM189A1,RPL41P2
tzetis_12_DD/ID_discovery_cases-case37
De novo
Unknown
IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,SCG5,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A,LINC01193,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
yang_13_DD/ID_discovery_cases-patient1
FISH
Maternal
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
yang_13_DD/ID_discovery_cases-patient2
FISH
Maternal
RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
yap_21_ASD_discovery_cases-case4406214
Unknown
APBA2,CHRNA7,OR4H6P,IGHV4OR15-8,KLF13,MAGEL2,MTMR10,ABCB10P1,ATP10A,NSMCE3,OR4Q1P,NIPA2,ULK4P3,ARHGAP11B,CHRFAM7A,SNORD107,TUBGCP5,NIPA1,PWAR1,OTUD7A,GABRG3,GABRB3,GABRA5,OR4N4,GOLGA8G,GOLGA6L2,SYNGR2P1,GOLGA8IP,UBE2CP4,GOLGA6L1,WHAMMP3,SNORD109A,SNORD115-1,SNORD108,SNORD109B,IGHV1OR15-1,RPS8P10,SNORD64,OR4M2,HERC2P10,OR4N3P,GOLGA8EP,HERC2P2,MIR211,WHAMMP2,HERC2P9,GOLGA6L22,LINC00929,RPL5P1,SPATA31E3P,PDCD6IPP2,IGHV1OR15-3,IGHV1OR15-4,SNORD116-19,GOLGA8Q,GOLGA8H,GOLGA8M,GOLGA6L7,ABCB10P3,HMGN2P5,DNM1P30,GOLGA8J,GOLGA8T,GOLGA8S,SNORD115-28,SNORD116-3,SNORD115-6,SNORD116-8,SNORD115-26,SNORD116-16,SNORD115-21,SNORD115-19,SNORD116-7,SNORD115-23,SNORD115-22,SNORD116-13,SNORD115-11,SNORD115-15,SNORD116-12,SNORD115-41,SNORD115-29,SNORD116-18,SNORD115-45,SNORD115-32,SNORD116-5,SNORD115-35,SNORD115-44,SNORD116-26,SNORD116-23,SNORD116-27,SNORD115-36,SNORD116-4,SNORD116-15,SNORD115-33,SNORD116-20,SNORD115-25,SNORD116-2,SNORD115-43,SNORD115-13,SNORD116-9,SNORD116-14,DEPDC1P1,SNORD115-17,SNORD115-4,SNORD115-5,SNORD115-2,SNORD116-28,SNORD115-24,SNORD115-9,SNORD115-31,SNORD115-16,SNORD115-27,SNORD115-20,SNORD115-12,SNORD115-38,SNORD115-39,SNORD115-10,ELMO2P1,SNORD116-25,SNORD116-22,SNORD115-48,PWRN1,SNORD116-1,SNORD116-10,SNORD115-37,SNORD116-29,SNORD116-6,SNORD116-11,SNORD115-3,SNORD115-42,SNORD115-47,SNORD115-18,SNORD115-34,SNORD115-14,SNORD115-7,SNORD115-8,PWRN2,SNORD115-30,SNORD116-24,SNORD116-21,SNORD115-40,SNORD116-17,TVP23BP1,LINC02346,TRPM1,OCA2,NDN,DNM1P28,HERC2P7,GOLGA8F,ABCB10P4,GOLGA8DP,RPL5P32,DMAC1P1,ULK4P2,MIR1268A,NCAPGP2,MIR4509-1,MIR4509-3,MIR4509-2,GOLGA8UP,MIR4508,RNA5SP391,PDCD6IPP1,RNA5SP390,MIR4715,SNORD115-46,SNORD116-30,GOLGA8R,DNM1P50,TUBBP8,HERC2P11,GABRG3-AS1,SERPINE4P,SNHG14,LINC02352,PWRN4,LINC02250,RN7SL196P,RN7SL106P,UBE3A,SNRPN,TJP1,RNU6-741P,RN7SL495P,RN7SL628P,RN7SL536P,RN7SL469P,RN7SL719P,RN7SL238P,RNU6-17P,RN7SL82P,RN7SL673P,RNU6-466P,RN7SL545P,RN7SL796P,LINC02248,SNURF,MKRN3,HERC2P1,HERC2,HERC2P6,PWAR5,FAM189A1,FAN1,RPL41P2,LINC02249,NPAP1,CYFIP1
yuen_17_ASD_discovery_cases-case1-0073-003
CNV not detected by WGS, identified via Agilent 1M
De novo
Simplex
Segregated
RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GABRG3,HERC2,FAM189A1,GOLGA8R,SNHG14
Controls
No Control Data Available
No Animal Model Data Available