15q11.1-q13.1CNV Type: Duplication
Largest CNV size: 8476200 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
8689000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
7967279
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
8652996
0
5
5
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
8880000
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
7866672
0
1
1
tan_14_ASD/DD_discovery_cases
Participants of a study to identify genomic imbalance in patients with developmental delay/multiple congenital anomalies recruited from the genetics outpatient clinics of the KK Women's and Children's Hospital, Singapore.
2
Both cases with developmental delay; one case with additional diagnosis of ASD (diagnostic tools not reported)
Range, 2 yrs.-5 yrs. 8 mos.
50% Male
7846091
0
2
2
urraca_13_ASD_discovery_cases
Subjects with interstitial 15q11-q13 duplications recruited through the Dup15 Alliance
14
11 subjects with a diagnosis of autism or ASD, 1 subject with a diagnosis of ADHD
Range, 3-16 yrs.
57.14% Male
8700000
0
3
3
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
8476200
0
2
2
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
9159499
0
7
7
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
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
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
8476200
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
aCGH (Agilent hotspot 2x400K)
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
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
tan_14_ASD/DD_discovery_cases
1 Malay, 1 Chinese
aCGH
Agilent 400K
Agilent Feature Extraction v10.7.31, Agilent Genomic Workbench Lite (edition 6.0.130.24)
qPCR
urraca_13_ASD_discovery_cases
10 Caucasian, 2 African-American, 1 Hispanic, 1 Pacific Islander
aCGH, array SNP
Signature Genomics SignatureChipOS array, Affymetrix 6.0
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chan_22_ASD_discovery_cases-case3-0021-000
NA
F
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: global developmental delay. Language and communication evaluation: no communicative speech at 4 years 10 months, usage of short sentences at 8 years 6 months. Motor and musculoskeletal evaluation: joint laxity, mild scoliosis. Behavioral/psychiatric evaluation: episodes of inappropriate laughter, aggressive behavior. Epilepsy/seizures: no history of clinical seizures. EEG: abnormal EEGs with excessive generalized beta activity. Dysmorphic features: smooth philtrum, thin upper lip, overbite/dental crowding. Family history: her mother required special education for all schooling and likely has intellectual disability.
20100001
28789000
8689000
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-19305103869
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
N/A
19794747
28307898
8513152
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001692
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19879749
28918517
9038769
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001818
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19879749
28918517
9038769
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002353
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19905469
28163751
8258283
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004324
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19879750
27933279
8053530
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005402
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19879749
28702163
8822415
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3510301
N/A
M
ASD
19839089
28679259
8840171
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case315
NA
F
Intellectual disability
Mild/moderate intellectual disability
20480949
28347620
7866672
GRCh38
Duplication
Yes
tan_14_ASD/DD_discovery_cases-case2
2 yrs.
F
Developmental delay
Birth/neonatal history: born at 39 weeks gestation; birth weight of 3234 g, length of 45.5 cm, and head circumference of 32 cm; Apgar scores of 9 at both 1 and 5 minutes. Developmental milestones: noted to have gross motor delay at 9 months of age; able to walk without support but unable to speak clear words at age of 2 years; assessment using the Age and States Questionnaire, Third Edition, showed normal scores for fine motor and personal-social skills, borderline score in communication skills, and significant delays in gross motor and problem-solving skills. Motor and musculoskeletal evaluation: truncal hypotonia. Dysmorphic features: protruding tongue, hypertelorism, truncal pigmentation, irregular pigmentation on lower limbs. Growth parameters: height 90th %ile, weight 90th %ile, head circumference 97th %ile. Family history: third child of non-consanguineous marriage with no family history of autism or learning impairment; mother was 28 years old and father 29 years old at time of birth. Karyotype: 47, XX, +mar.ish del (15)(q12)(SNRPN+, D15Z1+)[14]/47,XX,+mar.ish psu ids(15;15)(SNRPN++,D15Z1++)[4].
Developmental delay
19897288
28289905
8392618
GRCh38
Triplication
Yes
urraca_13_ASD_discovery_cases-case801-002
7 yrs. 11 mos.
M
ASD
ADOS calibrated severity score: 6. EEG: variant. Dysmorphic features: short nose, anteverted nares, long philtrum, wide mouth. Other findings: relaxed facial muscles. Neurological findings: attention deficit.
Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 79
N/A
N/A
8200000
GRCh37
Duplication
No
urraca_13_ASD_discovery_cases-case801-010
5 yrs. 4 mos.
M
Autism
ADOS calibrated severity score: 6. EEG: variant. Dysmorphic features: broad forehead, long palpebral fissures, short nose, wide nasal bridge, anteverted nares, long philtrum, thin upper lip, pointed chin.
Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 86
N/A
N/A
8100000
GRCh37
Duplication
No
urraca_13_ASD_discovery_cases-case801-019
5 yrs. 4 mos.
M
Autism
ADOS calibrated severity score: 10. EEG: N/A. Other findings: torticollis. Neurological findings: hypotonia.
Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
N/A
N/A
8700000
GRCh37
Duplication
No
wintle_10_ASD_discovery_cases-AN09402
11
M
Autism
Suspected autism
19811075
28708350
8897276
GRCh38
Duplication
Yes
wintle_10_ASD_discovery_cases-AN14762
9
M
15q duplication
Unknown
19811075
28697896
8886822
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0556-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
19794748
28914297
9119550
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0611-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
20101748
28667354
8565607
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case2-1288-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Isodentric Chromosome 15, hypothyroid condition
19794748
28667854
8873107
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-caseAU3371301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
19995748
28667854
8672107
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3371303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
19995748
28667854
8672107
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3371305
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
19993748
28667854
8674107
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3702307
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A. Additional genetic information: 4 copies of 15q11-q13 region.
19794748
28914297
9119550
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
chan_22_ASD_discovery_cases-case3-0021-000
Unknown
NBEAP1,IGHD3OR15-3B,OR4H6P,IGHD4OR15-4B,IGHV4OR15-8,IGHD2OR15-2B,IGHV1OR15-6,IGHD1OR15-1B,IGHD5OR15-5B,MAGEL2,ABCB10P1,ATP10A,OR11J2P,NIPA2,OR4Q1P,OR11H3P,OR11K1P,SNORD107,NIPA1,TUBGCP5,PWAR1,GABRA5,GABRB3,GABRG3,GOLGA8IP,OR4N4,HERC2P3,GOLGA8G,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,RPS8P10,LINC01193,IGHV1OR15-1,SNORD64,OR4N3P,OR4M2,HERC2P2,GOLGA8EP,WHAMMP2,OR11J5P,NF1P2,GOLGA6L22,HERC2P9,BMS1P15,LINC00929,CXADRP2,SPATA31E3P,SPATA31E2P,IGHV1OR15-4,RHPN2P1,RPL5P1,IGHV1OR15-3,CHEK2P2,SNORD116-19,LINC02203,ABCB10P3,FAM30C,BMS1P16,GOLGA8S,GOLGA8M,GOLGA6L6,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,GOLGA8CP,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,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,OCA2,NDN,ABCB10P4,GOLGA8F,GOLGA8DP,HERC2P7,ZNF519P3,POTEB2,OR11J7P,RPL5P32,ZNF519P2,OR11J6P,DMAC1P1,MIR1268A,NBEAP4,NF1P1,LONRF2P4,LONRF2P3,MIR3118-2,MIR3118-3,MIR3118-4,MIR4508,MIR4509-1,BCAR1P2,MIR4509-2,MIR4509-3,GRAMD4P6,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR5701-2,GRAMD4P5,MIR5701-1,MIR4715,HERC2P11,SNORD115-46,POTEB,SNORD116-30,GABRG3-AS1,NF1P9,SERPINE4P,POTEB3,SNHG14,MIR5701-3,OR4N4C,LINC02250,PWRN4,ATP10A-DT,OR4H6BP,RN7SL495P,RN7SL106P,UBE3A,SNRPN,RN7SL759P,RNU6-631P,RNU6-741P,RN7SL536P,RNU6-749P,RN7SL238P,RN7SL719P,RNU6-1235P,RN7SL400P,RNU6-498P,RN7SL545P,LINC02248,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,CYFIP1,NPAP1,RPL41P2
girirajan_13b_ASD_discovery_cases-19305103869
aCGH (Agilent hotspot 2x400K)
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001692
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001818
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002353
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004324
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,SNHG14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005402
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
leppa_16_ASD_discovery_cases-AU3510301
De novo
Simplex
Possibly segregated
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
streata_22_ASD/DD/ID_discovery_cases-case315
CMA, karyotyping, and/or MLPA
De novo
NBEAP1,IGHD3OR15-3B,OR4H6P,IGHD4OR15-4B,IGHV4OR15-8,IGHD2OR15-2B,IGHV1OR15-6,IGHD1OR15-1B,IGHD5OR15-5B,MAGEL2,ABCB10P1,ATP10A,OR11J2P,NIPA2,OR4Q1P,OR11H3P,OR11K1P,SNORD107,NIPA1,TUBGCP5,PWAR1,GABRA5,GABRB3,GABRG3,GOLGA8IP,OR4N4,HERC2P3,GOLGA6L2,GOLGA6L1,WHAMMP3,SNORD109A,SNORD108,SNORD109B,SNORD115-1,RPS8P10,LINC01193,IGHV1OR15-1,SNORD64,OR4N3P,OR4M2,HERC2P2,GOLGA8EP,OR11J5P,NF1P2,GOLGA6L22,LINC00929,CXADRP2,SPATA31E3P,SPATA31E2P,IGHV1OR15-4,RPL5P1,IGHV1OR15-3,SNORD116-19,LINC02203,FAM30C,BMS1P16,GOLGA8S,GOLGA6L6,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,GOLGA8CP,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,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,OCA2,NDN,GOLGA8DP,HERC2P7,ZNF519P3,POTEB2,OR11J7P,RPL5P32,ZNF519P2,OR11J6P,DMAC1P1,MIR1268A,NBEAP4,NF1P1,LONRF2P4,LONRF2P3,MIR3118-2,MIR3118-3,MIR3118-4,MIR4508,MIR4509-1,BCAR1P2,GRAMD4P6,RNA5SP390,RNA5SP391,PDCD6IPP1,MIR5701-2,GRAMD4P5,MIR5701-1,MIR4715,SNORD115-46,POTEB,SNORD116-30,GABRG3-AS1,NF1P9,SERPINE4P,POTEB3,SNHG14,MIR5701-3,OR4N4C,LINC02250,PWRN4,ATP10A-DT,OR4H6BP,RN7SL495P,RN7SL106P,UBE3A,SNRPN,RN7SL759P,RNU6-631P,RNU6-741P,RN7SL536P,RNU6-749P,RNU6-1235P,RN7SL400P,RNU6-498P,RN7SL545P,LINC02248,SNURF,HERC2,PWAR5,HERC2P6,HERC2P1,MKRN3,OR11K1BP,OR4N3BP,OR1Q1BP,OR4M2B,CYFIP1,NPAP1,RPL41P2
tan_14_ASD/DD_discovery_cases-case2
qPCR
Unknown
Simplex
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
urraca_13_ASD_discovery_cases-case801-002
De novo, maternal chromosome
Unknown
Likely segregated
urraca_13_ASD_discovery_cases-case801-010
De novo, maternal chromosome
Unknown
Likely segregated
urraca_13_ASD_discovery_cases-case801-019
De novo, maternal chromosome
Unknown
Likely segregated
wintle_10_ASD_discovery_cases-AN09402
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
wintle_10_ASD_discovery_cases-AN14762
Solid phase hybridization (Illumina Human 1M-duo)
Unknown
Unknown
Unknown
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-case1-0556-003
Illumina OMNI 2.5M
De novo
Simplex
Segregated
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-case1-0611-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-case2-1288-003
Affymetrix CytoScan HD
Putative De novo
Simplex
Possibly segregated
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-caseAU3371301
Not available
Maternal
Multiplex
Possibly segregated
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-caseAU3371303
Not available
Maternal
Multiplex
Possibly segregated
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-caseAU3371305
Not available
Maternal
Multiplex
Possibly segregated
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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
yuen_17_ASD_discovery_cases-caseAU3702307
Not available
De novo
Multiplex
Not segregated
RNU6-978P,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,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,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,LINC01193,GABRG3,HERC2,SNHG14
Controls
No Control Data Available
No Animal Model Data Available