5q15CNV Type: Deletion-Duplication
Largest CNV size: 106446 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
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.
Deletion-Duplication
Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
Deletion
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD/DD/ID_discovery_cases
Cases (children referred to Guy's and St. Thomas NHS Foundation Trust, southeastern UK from pediatricians and regional hospital) from Brain and Body Genetics Research Exchange (BBGRE)
4092
Developmental delay, ASD, speech or language delay or congenital defects
N/A
63.0% Male
226469
1
1
2
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
147000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
5073
1
0
1
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
68745
1
0
1
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
175825
4
1
5
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
24750
3
0
3
jurkute_21_DD_discovery_cases
Individual carrying a de novo 5q15 deletion affecting the NR2F1 gene from an initial cohort of 22 patients with Bosch-Boonstra-Schaaf optic atrophy syndrome.
1
Case presented with developmental delay (DD).
NA
Female
598980
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
4311253
2
2
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
79481
0
1
1
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
500000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
106446
0
1
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
23265
1
1
2
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
46807
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
45626
1
0
1
rech_20_ASD/DD_discovery_cases
Previously unreported individuals with variants affecting the NR2F1 gene
18
16/18 cases presented with developmental delay, speech delay, and motor delay; 10/18 cases received a diagnosis of autism spectrum disorder, 6/18 cases presented with autistic features, and 1 case presented with PDD-NOS.
Range, 2.2-16.6 yrs.
44.44% Male
2450177
2
0
2
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
546000
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
86921
12
1
13
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
41272
0
1
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
51668
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
addis_15_ASD/DD/ID_discovery_controls
Controls from the Wellcome Trust Case Control Consortium (WTCCC)
4783
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
613657
2
1
3
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
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
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)
7747
1
0
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
45626
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
546000
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.
2084
3
0
3
tropeano_13_DD/ASD_discovery_controls
Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
11277
Control
N/A
N/A
1392392
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD/DD/ID_discovery_cases
United Kingdom
aCGH
Agilent 60K
None
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_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
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
jurkute_21_DD_discovery_cases
United States
NA
NA
NA
NA
None
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
rech_20_ASD/DD_discovery_cases
NA
CMA
Platform not reported
None
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
addis_15_ASD/DD/ID_discovery_controls
United Kingdom
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
tropeano_13_DD/ASD_discovery_controls
77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
Solid phase hybridization
Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
addis_15_ASD/DD/ID_discovery_cases-BBGRE112601
1 yr.
F
Developmental delay
Developmental delay, speech and language disorder, microcephaly (<5th %ile), mild cognitive delay, motor skills development disorder
93862293
94088763
226471
GRCh38
Duplication
No
addis_15_ASD/DD/ID_discovery_cases-BBGRE119460
2 yrs.
M
Autistic features
Social communication difficulties, speech and language delay
97966673
98044318
77646
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case63930
N/A
M
NDD
Case with unspecified neurodevelopmental disorder. Patient has balanced translocation 5/12.
96391767
96538768
147002
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC10801
N/A
M
ASD
Case from SSC_phase1 cohort
97011227
97016300
5074
GRCh38
Deletion
Yes
davis_09_ASD_discovery_cases-AU019705
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
97056331
97125076
68745
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case16076_1571045001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97712762
97888587
175826
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3491_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96870098
97010035
139938
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4423_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94420943
94474503
53561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5513_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93625915
93670184
44270
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8540_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93732443
93779967
47525
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case514-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
97574852
97599602
24751
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case565-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
97574852
97599602
24751
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case687-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
97574852
97599602
24751
GRCh38
Deletion
No
jurkute_21_DD_discovery_cases-caseNR2F1_22
NA
F
Developmental delay and learning disability
Developmental milestones: developmental delay (mild speech delay). Brain imaging: non-specific thickening of the genu, rostrum, and anterior body of the corpus callosum, and a duplicated anterior communicating artery and three A2 segments of the anterior cerebral arteries. Ophthalmological evaluation: optic atrophy (age of diagnosis: 6 years), strabismus (squint), nystagmus, mild hyperopia, astigmatism, retinal nerve fibre layer thinning of the optic nerve, small optic nerves, optic chiasm, and optic tracts bilaterally.
Mild cognitive delay, learning disability
93578384
94177363
598980
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002794
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96792139
96966998
174860
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004101
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93405010
97716265
4311256
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004595
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93078983
95529159
2450177
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004973
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93598243
94237822
639580
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11839.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
94074645
94154126
79482
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU3443306
N/A
M
ASD
95382296
95927296
545001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11839.p1
NA
M
ASD
NA
NA
94070870
94177315
106446
GRCh38
Duplication
No
mosca_16_DCD_discovery_cases-case110503
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis reading disorder.
98036517
98059781
23265
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case118903
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
97307605
97328946
21342
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case8540_201
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
93732443
93779249
46807
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case60966-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
97141385
97187010
45626
Unknown
Deletion
No
rech_20_ASD/DD_discovery_cases-case25
16.6 yrs.
M
PDD-NOS, OCD, DD, epilepsy/seizures
Developmental milestones: developmental delay, speech delay, motor delay. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: PDD-NOS, OCD, pacing and hitting behaviors, love of music, sleep difficulties, touch sensitivity. Epilepsy/seizures: absence seizures and tonic seizures. Additional medical history: visual impairment, optic atrophy, alacrima, cortical visual impairment, manifest latent nystagmus/fusional maldevelopment, high pain tolerance, feeding problems/oromotor dysfunction, abnormal temperature regulation.
Unusually good long-term memory
93078983
95529159
2450177
GRCh38
Deletion
No
rech_20_ASD/DD_discovery_cases-case26
3.6 yrs.
M
ASD, DD
Developmental milestones: developmental delay, speech delay, mild motor delay. Motor and musculoskeletal evaluation: mild hypotonia. Behavioral/psychiatric evaluation: formal diagnosis of ASD, love of music, mouth-stuffing behavior, mild touch sensitivity, unspecified cognitive/behavioral anomalies. Additional medical history: visual impairment, optic atrophy, alacrima, cortical visual impairment, small optic nerves, high pain tolerance, feeding problems/oromotor dysfunction (mild or resolved with time), abnormal temperature regulation.
Unusually good long-term memory, unspecified cognitive/behavioral anomalies
93259291
94233697
974407
GRCh38
Deletion
No
reinthaler_14_EP_discovery_cases-caseGGRE06
N/A
F
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
97171313
97717379
546067
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
97410858
97435670
24813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
97790816
97817905
27090
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11806.p1
4.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 102
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11857.p1
6.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 101; verbal IQ, 96
97790816
97817905
27090
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
97319148
97328723
9576
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12153.p1
11.1
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ,66 ; verbal IQ, 51
95639888
95654854
14967
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12317.p1
6.8
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 92; verbal IQ, 95
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12647.p1
6.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 73; verbal IQ, 81
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12682.p1
9.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
97790816
97817905
27090
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13060.p1
6.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 98
97553095
97640016
86922
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
96762275
96803547
41273
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
97711949
97763616
51668
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-controlB526744_1007870373
N/A
N/A
Control
No previous psychiatric history
93327520
93941178
613659
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900396_900396
N/A
N/A
Control
No previous psychiatric history
95103843
95209066
105224
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901118_901118
N/A
N/A
Control
No previous psychiatric history
97240505
97276697
36193
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
96757581
96765327
7747
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
96760426
96762510
2085
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12317.s1
10.8
F
Control (matched sibling)
NA
NA
96368015
96369825
1811
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
96368015
96369825
1811
GRCh38
Deletion
No
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_1
N/A
F
Control
N/A
N/A
96090116
97482507
1392392
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
addis_15_ASD/DD/ID_discovery_cases-BBGRE112601
Unknown
Unknown
Unknown
FAM172A
addis_15_ASD/DD/ID_discovery_cases-BBGRE119460
Unknown
Unknown
Unknown
asadollahi_14_NDD_discovery_cases-case63930
MLPA
Paternal
Unknown
Unknown
PCSK1,CAST
brandler_18_ASD_discovery_cases-caseSSC10801
PCR or SNP data validation (SNP VCF)
De novo
LNPEP
davis_09_ASD_discovery_cases-AU019705
Unknown
Unknown
Unknown
0 genes
engchuan_15_ASD_discovery_cases-case16076_1571045001
Unknown
LINC02234
engchuan_15_ASD_discovery_cases-case3491_3
Unknown
ERAP2,LNPEP
engchuan_15_ASD_discovery_cases-case4423_1
Unknown
KIAA0825
engchuan_15_ASD_discovery_cases-case5513_3
Unknown
FAM172A
engchuan_15_ASD_discovery_cases-case8540_201
Unknown
POU5F2,FAM172A
gazzellone_14_ASD_discovery_cases-case514-3
Unknown
Unknown
Unknown
LINC01340
gazzellone_14_ASD_discovery_cases-case565-3
Unknown
Unknown
Unknown
LINC01340
gazzellone_14_ASD_discovery_cases-case687-3
Unknown
Unknown
Unknown
LINC01340
jurkute_21_DD_discovery_cases-caseNR2F1_22
De novo
FAM172A,POU5F2,KIAA0825,NR2F1-AS1,MIR2277,NPM1P27,NR2F1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002794
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ERAP1,ERAP2,LNPEP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004101
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,RNU6-308P,GPR150,HSPD1P11,LINC01554,FABP5P5,MIR583,RNU6-524P,SETP22,RNU1-73P,MTCYBP40,MTND5P12,ARSK,PCSK1,ERAP1,ERAP2,RIOK2,YTHDF1P1,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,RFESD,SPATA9,RHOBTB3,GLRX,ELL2,MIR583HG,CAST,LNPEP,LIX1-AS1,LIX1,KIAA0825,FAM81B,LINC01340
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004595
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
POLD2P1,MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,RNU6-308P,MTND5P12,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,KIAA0825,FAM81B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004973
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR2277,NPM1P27,POU5F2,FAM172A,KIAA0825
krumm_15_ASD_discovery_cases-case11839.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FAM172A,KIAA0825
leppa_16_ASD_discovery_cases-AU3443306
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
RNU6-308P,GPR150,HSPD1P11,LINC01554,ARSK,TTC37,RFESD,SPATA9,RHOBTB3,GLRX,ELL2,FAM81B
levy_11_ASD_discovery_cases-11839.p1
Maternal
Simplex
Segregated
FAM172A,KIAA0825
mosca_16_DCD_discovery_cases-case110503
Unknown
Multi-generational
Unknown
mosca_16_DCD_discovery_cases-case118903
Unknown
Unknown
Unknown
LIX1-AS1
pinto_14_ASD_discovery_cases2-case8540_201
qPCR
Paternal
Unknown
CNV in male sib (22733)
POU5F2,FAM172A
prasad_12_ASD_discovery_cases-case60966-L
Unknown
Unknown
Unknown
0 genes
rech_20_ASD/DD_discovery_cases-case25
Maternal
POLD2P1,MIR2277,NPM1P27,POU5F2,MTND6P3,MTCYBP35,RPL7P18,MCTP1-AS1,RTRAFP2,RNU6-308P,MTND5P12,NR2F1-AS1,NR2F1,FAM172A,SLF1,MCTP1,TTC37,KIAA0825,FAM81B
rech_20_ASD/DD_discovery_cases-case26
Unknown
POLD2P1,MIR2277,NPM1P27,POU5F2,NR2F1-AS1,NR2F1,FAM172A,KIAA0825
reinthaler_14_EP_discovery_cases-caseGGRE06
Unknown
Unknown
Unknown
RNU1-73P,MTCYBP40,RIOK2,YTHDF1P1,LIX1-AS1,LINC01340
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11049.p1
Paternal
Simplex (quad-proband matched)
Segregated
LIX1-AS1
sanders_11_ASD_discovery_cases-11704.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11806.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11857.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Segregated
LIX1-AS1
sanders_11_ASD_discovery_cases-12153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RFESD,SPATA9
sanders_11_ASD_discovery_cases-12317.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12647.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12682.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12972.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13060.p1
Maternal
Simplex (trio)
NA
LINC01340
stamouli_18_ASD/NDD_discovery_cases-family50_Twin_1
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
ERAP1,CAST
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB526744_1007870373
Unknown
MIR2277,NPM1P27,POU5F2,NR2F1-AS1,NR2F1,FAM172A
engchuan_15_ASD_discovery_controls-controlHABC_900396_900396
Unknown
MCTP1
engchuan_15_ASD_discovery_controls-controlHABC_901118_901118
Unknown
LIX1-AS1
poultney_13_ASD_discovery_controls-control05C44621
Unknown
ERAP1,CAST
sanders_11_ASD_discovery_controls-11345.s1
Paternal
Simplex (quad)
NA
ERAP1,CAST
sanders_11_ASD_discovery_controls-12317.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
tropeano_13_DD/ASD_discovery_controls-control-WTCCC2_1
Unknown
RNU6-524P,SETP22,RNU1-73P,PCSK1,ERAP1,ERAP2,RIOK2,YTHDF1P1,MIR583HG,CAST,LNPEP,LIX1-AS1,LIX1
No Animal Model Data Available