4p16.3-p16.2CNV Type: Duplication
Largest CNV size: 3475975 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
4843130
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
4843131
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
5025172
8
3
11
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
298159
0
1
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
5355793
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
3475975
0
2
2
tabet_15_ASD_discovery_cases
ASD cases carrying apparently balanced chromosomal abnormalities: 12 from the Paris Autism Research International Study (PARIS) family dataset, 6 referred by network of French cytogeneticists
18
All cases diagnosed with ASD: 16 cases fulfilled DSM-IV criteria for autistic disorder, 2 cases with previous diagnosis of ASD but that could not be formally evaluated for ASD in this study. DISCO-10, ADI-R, and/or ADOS used to evaluate patients.
Range, 4-30 years
77.78% Male
4235279
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
298159
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
297293
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
tabet_15_ASD_discovery_cases
France
Solid phase hybridization
Illumina Human CNV370-Duo BeadChip
Illumina CNV Partition (v1.3.2 or v2.4.4)
Illumina Bead Studio v3.2
qPCR, FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case1
11 yrs.
M
ASD, developmental delay, and intellectual disability
Autism, developmental delay (walking at 5 years), behavioural problems, intellectual disability, frequent falling, dysmorphic facial features. Growth parameters: height 1.25 m, weight 23 kg, head circumference N/A. Family history: born to non-consanguineous parents.
Intellectual disability
35031
4878160
4843130
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case330
11 yrs.
M
ASD, developmental delay, and intellectual disability
Developmental milestones: global developmental delay (HP:0001263). Behavioral/psychiatric evaluation: autism (HP:0000717), atypical behavior (HP:0000708). Growth parameters: height 125 cm, weight 23 kg (no data on head circumference).
Intellectual disability (HP:0001249)
35030
4878160
4843131
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000935
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51519
3775116
3723598
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001181
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
3847154
3774600
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001762
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
3785385
3712831
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
3206313
3133759
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
4596207
4511059
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002532
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56878
3870653
3813776
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
4405782
4320634
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004090
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
3460958
3388404
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004468
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
5034991
4962437
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004899
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72555
3847154
3774600
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005059
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1598653
4722090
3123438
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11219.p1
NA
M
ASD
NA
NA
2903937
3202095
298159
GRCh38
Duplication
No
miclea_22_DD/ID_discovery_cases-case184
NA
NA
Developmental delay and intellectual disability
Global developmental delay, epilepsy, cardiac malformation, dysmorphic features
Intellectual disability
48286
5404078
5355793
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11219.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 98
2904558
3207498
302941
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
45414
3539860
3494447
GRCh38
Duplication
Yes
tabet_15_ASD_discovery_cases-case1
4 yrs.
M
Autism
Diagnosis of autism (DISCO). Initital karyotype: 46,XY,der(4)t(4;acro p)(p16.3;acro p)dn. Langauge: functional language. Birth and early development: born at 42 weeks, birth weight +4.3 SD (gestational diabetes), neonatal hypoglycemia; normal motor milestones. Body measures: weight +2-3 SD and height +2-3 SD at 4 years. Dysmorphic features: no dysmorphic features; mild strabismus. Other: inguinal hernia. Brain MRI: not performed. Family history: second child of healthy non-consanguineous parents.
Verbal IQ of 67, performance IQ of 78, full-scale IQ of 69 (WPPSI-R, 34 months)
583792
4811132
4227341
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
levy_11_ASD_discovery_controls-11219.s1
NA
F
Control
NA
NA
2903937
3202095
298159
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
2904558
3201851
297294
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case1
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,TMEM128,CTBP1-DT,FAM53A,OTOP1,ZNF595,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,MSX1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,LINC01396,STX18-IT1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
akter_24_ASD/ADHD/DD/ID_discovery_cases-case330
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,NKX1-1,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,TMEM128,CTBP1-DT,FAM53A,OTOP1,ZNF595,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,MSX1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,LINC01396,STX18-IT1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000935
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001181
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001762
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,POLN,HTT,OTOP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002532
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003809
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT,OTOP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004090
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004468
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,POLN,HTT,OTOP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004899
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005059
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,POLN,HTT,OTOP1
levy_11_ASD_discovery_cases-11219.p1
Maternal
Simplex
Not segregated
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
miclea_22_DD/ID_discovery_cases-case184
Unknown
ADD1,ADRA2C,ATP5ME,DGKQ,FGFR3,CTBP1,OR7E43P,NSG1,STX18,LYAR,FGFRL1,CYTL1,NKX1-1,STK32B,PIGG,UVSSA,ZFYVE28,HAUS3,TNIP2,OR7E99P,ABCA11P,SLC49A3,TMEM175,TMEM129,TMEM128,CTBP1-DT,FAM53A,OTOP1,ZNF595,ZNF721,ZBTB49,HGFAC,HTT,GRK4,IDUA,GAK,OR7E103P,ZNF718,DOK7,NAT8L,CTBP1-AS,LINC00955,NOP14-AS1,RNF212,MSANTD1,FAM86EP,POLN,C4orf48,CFAP99,OR7E162P,ZNF876P,UNC93B4,RPS7P15,MIR571,ALG1L7P,ZNF732,RPS3AP16,SCARNA22,MIR943,LRPAP1,MYL5,MSX1,LDHAP1,LETM1,LINC02171,OR7E163P,TMED11P,COX6B1P5,ENPP7P9,MIR4800,STX18-AS1,HTT-AS,BNIP3P41,RNF4,RGS12,PDE6B,PDE6B-AS1,LINC01396,STX18-IT1,NSD2,NELFA,SH3BP2,RN7SL589P,RNU6-204P,RN7SKP113,ZNF519P4,LINC02600,TMEM271,FAM193A,NOP14,SLBP,ZNF141,MFSD10,CPLX1,PCGF3,MAEA,TACC3,MXD4,SPON2,SLC26A1
sanders_11_ASD_discovery_cases-11219.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
sanders_11_ASD_discovery_cases-13367.p1
qPCR
De Novo
Simplex (trio)
NA
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,BNIP3P41,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,POLN,HTT
tabet_15_ASD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Segregated
ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,POLN,HTT,OTOP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-11219.s1
Maternal
Simplex
NA
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
sanders_11_ASD_discovery_controls-11219.s1
Maternal
Simplex (quad)
NA
RNU6-204P,MFSD10,NOP14-AS1,NOP14,HTT-AS,ADD1,GRK4,HTT
No Animal Model Data Available