1p36.31CNV Type: Deletion-Duplication
Largest CNV size: 287662 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Minor 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.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al_kateb_24_DD/ID_discovery_cases
Individuals with heterozygous intragenic deletions affecting the CAMTA1 gene (from an initial cohort of 26 previously unreported individuals with CAMTA1 variants).
3
All three individuals with CAMTA1 deletions presented with developmental delay, with one of the three also presenting with intellectual disability, seizures, and stereotypy.
Range, 5 yrs. 3 mos.-15 yrs. 10 mos.
Male
106614
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
7000
2
0
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
29668
2
0
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
94531
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
33383
1
0
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
604822
0
2
2
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
540000
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
403425
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
26094
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
540000
0
1
1
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
305000
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
30388
0
1
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
287662
7
1
8
thevenon_12_DD/ID_discovery_cases
Probands with non-progressive congenital ataxia (NPCA); two of these probands are from families with history of NPCA and intellectual disability (ID), one is a sporadic case with no ID.
3
Non-progressive congenital ataxia with or without intellectual disability. One case with ASD.
Range, 4-16 yrs.
33.3% Male
49000
1
0
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
5165000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
47989
0
1
1
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
302533
0
1
1
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
504346
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
11039
7
0
7
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_kateb_24_DD/ID_discovery_cases
2 cases were of Caucasian ancestry, while the third was of Italian and Brazilian ethnicity
Array SNP, CMA
Affymetrix CytoScan HD, Agilent 244 K, Quest
Sanger sequencing
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
thevenon_12_DD/ID_discovery_cases
France
aCGH, solid phase hybridization
Agilent Human Genome CGH Microarray 105K, Illumina HumanCytoSNP-12 v2.1
CNVPartition V2.4.4
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
al_kateb_24_DD/ID_discovery_cases-case20
6 yrs. 1 mo.
M
Developmental delay
Motor delay, delayed ability to walk (16 months), mild fine motor difficulties, speech delay (lost words until 22 months), dysarthria, hyperactivity/borderline ADHD, tics, sleep disturbance, gastroesophageal reflux, feeding difficulites, tube feeding (G-tube feeding since 3 years), seizures, frequent falls, unsteady gait, clumsiness, facial asymmetry. Family history: of Caucasian ancestry.
6861322
6967935
106614
GRCh38
Deletion
Yes
asadollahi_14_NDD_discovery_cases-case9229
27 yrs.
M
Intellectual disability and epilepsy
Moderate intellectual disability, epilepsy, abnormal behavior (episodes with ravenousness, extreme fatigue, and fluctating alertness; hyperactivity). Only affected child, only child with homozygous deletion
Mild ID (IQ of 55-65)
6378361
6385467
7107
GRCh38
Homozygous deletion
Yes
brandler_18_ASD_replication_cases-caseAU009903
N/A
M
ASD
Case from MSSNG cohort
6668221
6697888
29668
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU009904
N/A
M
ASD
Case from MSSNG cohort
6668221
6697888
29668
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13117_1343
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
6861518
6956049
94532
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case658-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
5673953
5707336
33384
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si107
10
M
Autism
ADOS score: 6. Vineland composite score: 89.
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 123; Non-verbal IQ, 127.
5906848
6511670
604823
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si183
13
M
Autism
ADOS score: 7. Vineland composite score: 66.
No mental retardation/intellectual disability. Full-scale IQ, 90; Verbal IQ, 73; Non-verbal IQ, 102.
5402687
5705164
302478
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU1813301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
5967353
6507353
540001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
6108245
6511670
403426
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case14210.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
6208880
6234974
26095
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown91
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
5431580
5971065
539486
GRCh38
Duplication
No
mikhail_11_DD/ID_discovery_cases-patient3
14 yrs.
M
Intellectual disability + developmental delay
Behavioral problems: ADHD, pervasive developmental disorder (PDD). Speech problems. Ataxic gait. Velopharyngeal insufficiency (VPI). No dysmorphic features. Growth parameters: height, 158 cm (25th %ile); weight, 35 kg (<5th %ile); head circumference, 54.2 cm (25-50th %ile).
Intellectual disability, developmental delay
6611686
6916728
305043
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI2784A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1157303; NDAR ID NDAR_INVHV722KZW)
6264595
6294982
30388
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
6459964
6470375
10412
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11453.p1
8.8
M
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 109
6380228
6381833
1606
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
6464441
6468242
3802
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11928.p1
12.6
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 66; verbal IQ, 47
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
6380228
6381833
1606
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12831.p1
4.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
5499189
5786851
287663
GRCh38
Duplication
No
thevenon_12_DD/ID_discovery_cases-proband3
4 yrs.
F
Ataxia + DD
Birth/neonatal history: intrauterine growth retardation (IUGR); neonatal hypotonia and motor delay noted at birth. Family history: none. Developmental milestones: independent walking at 21 months. Langauge and communication evaluation: mild speech difficulties but spoke well-structured sentences. Motor and musculoskeletal evaluation: Scale for Assessment and Rating of Ataxia (SARA) score of 9; walked with wide-based gait with occasional falls; improvement in ataxia which became visible only during tandem walking at 4 years; dysmetry, instability, and dysrthria/abnormal production. Behavioral /psychiatric evaluation: no behavioral abnormalities. Dysmorphic features: facial dysmorphism.
Disassociation between verbal and non-verbal skills; WPPSI-III testing at 4 years 2 months: normal non-verbal skills and deficient verbal skills due to defective articulation and fluency; Nepsy testing showed normal sensorimotor but mildly altered visuospatial (design copying) functions.
6794391
6843539
49149
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case1
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
4941776
10084775
5143000
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036005551_
N/A
N/A
Control
No previous psychiatric history
6690053
6738042
47990
GRCh38
Duplication
No
girirajan_11_ASD_discovery_controls-NIMH_04
NA
NA
Control
NA
NA
6209137
6511670
302534
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-71704102974
N/A
N/A
Control
Ethnicity: Hispanic
N/A
6007324
6511670
504347
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11625.s1
17.3
M
Control (matched sibling)
NA
NA
6459964
6470375
10412
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11913.s1
5.9
F
Control (matched sibling)
NA
NA
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12029.s1
12.6
M
Control (matched sibling)
NA
NA
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12231.s1
12.3
F
Control (matched sibling)
NA
NA
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
5786347
5797386
11040
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
5792820
5797386
4567
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13166.s1
5.6
M
Control (matched sibling)
NA
NA
5786347
5797386
11040
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_kateb_24_DD/ID_discovery_cases-case20
Sanger sequencing
De novo
CAMTA1
asadollahi_14_NDD_discovery_cases-case9229
MLPA
Both parents
Simplex
Segregated
ACOT7
brandler_18_ASD_replication_cases-caseAU009903
No validation step reported
Paternal
DNAJC11
brandler_18_ASD_replication_cases-caseAU009904
No validation step reported
Paternal
DNAJC11
engchuan_15_ASD_discovery_cases-case13117_1343
Unknown
CAMTA1
gazzellone_14_ASD_discovery_cases-case658-3
Unknown
Unknown
Unknown
girirajan_11_ASD_discovery_cases-Si107
Unknown
Simplex
LINC00337,HES3,MIR4252,TNFRSF25,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,NPHP4,KCNAB2,CHD5,HES2,ACOT7
girirajan_11_ASD_discovery_cases-Si183
Unknown
Simplex
girirajan_13a_ASD_discovery_cases-AU1813301
Unknown
Multiplex
Unknown
LINC00337,HES3,MIR4252,TNFRSF25,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,NPHP4,KCNAB2,CHD5,HES2,ACOT7
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
LINC00337,HES3,MIR4252,TNFRSF25,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,CHD5,HES2,ACOT7
krumm_15_ASD_discovery_cases-case14210.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
LINC00337,RPL22,RNF207,ICMT
maini_18_ASD/DD/ID_discovery_cases-case_unknown91
Paternal
Unknown
Unknown
MIR4689,NPHP4
mikhail_11_DD/ID_discovery_cases-patient3
FISH
De novo
Unknown
Unknown
LINC01672,CAMTA1-DT,KLHL21,PHF13,THAP3,DNAJC11,CAMTA1
poultney_13_ASD_discovery_cases-case04HI2784A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACOT7
sanders_11_ASD_discovery_cases-11446.p1
Both parents
Simplex (quad-proband matched)
Segregated
TNFRSF25,ESPN,PLEKHG5
sanders_11_ASD_discovery_cases-11453.p1
Maternal
Simplex (quad-proband matched)
Segregated
ACOT7
sanders_11_ASD_discovery_cases-11592.p1
Both parents
Simplex (quad-proband matched)
Not segregated
TNFRSF25,PLEKHG5
sanders_11_ASD_discovery_cases-11928.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12137.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12664.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ACOT7
sanders_11_ASD_discovery_cases-12831.p1
Paternal
Simplex (trio)
NA
thevenon_12_DD/ID_discovery_cases-proband3
De novo
Simplex
Segregated
CAMTA1
xu_16_ASD/DD/ID_discovery_cases-case1
Unknown (not maternal)
MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,ACOT7,CAMTA1,RERE
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036005551_
Unknown
LINC01672,DNAJC11
girirajan_11_ASD_discovery_controls-NIMH_04
Unknown
LINC00337,HES3,MIR4252,TNFRSF25,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,HES2,ACOT7
girirajan_13b_ASD_discovery_controls-71704102974
Unknown
LINC00337,HES3,MIR4252,TNFRSF25,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,KCNAB2,CHD5,HES2,ACOT7
sanders_11_ASD_discovery_controls-11625.s1
Both parents
Simplex (quad)
NA
TNFRSF25,ESPN,PLEKHG5
sanders_11_ASD_discovery_controls-11913.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12029.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12231.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12832.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13166.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available