2q23.1CNV Type: Deletion-Duplication
Largest CNV size: 197026 bp
Statistics Box:
Number of Reports: 26
Number of Reports: 26
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
Deletion-Duplication
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank
Deletion
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome
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
137209
1
0
1
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
454571
1
0
1
bonnet_13_DD/ID_discovery_cases
Patients with unexplained developmental delay/intellectual disability recruited for clinical diagnostic testing for genomic imbalance using aCGH following initial testing for karyotype (National aCGH network funded by French Ministry of Health)
4
Developmental delay/intellectual disability (as an isolated symptom or in association with behavioral problems, such as autistic-like symptoms and stereotypic repetitive behavior)
Range, 3 yrs. 6 mos.-4 yrs.
25% Male
68280
3
1
4
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
3258
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
190
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
35070
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
122000
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
197025
1
1
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
12786
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
570000
20
0
20
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
201379
2
1
3
hodge_13_DD/ID/ASD_discovery_cases
Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)
17
Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.
Range, <1 yr.-44 yrs.
52.94% Male
741635
9
0
9
jaillard_09_DD_discovery_cases
Cases recruited at clinical genetic dept. of Rennes University Hospital and Robert Debr University Hospital, Paris
2
Both cases with severe psychomotor retardation, severe language impairment, epilepsy, ataxia, microcephaly, and beahvioral disabilities. One case with autistic features.
10 yrs
Male
250000
1
0
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
68468
1
0
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
359462
5
0
5
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
68469
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
254390
2
0
2
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
359463
7
0
7
mitani_21_DD/ID_discovery_cases
Individuals from 234 newly enrolled (175 simplex families, 54 families with two affected, four families with three affected, and one family with four affected) Turkish families in the Turkish brain malformation/NDD cohort #2 (TBM2) cohort of Baylor-Hopkins Center for Mendelian Genomics (BHCMG) with a spectrum of neurodevelopmental disorder phenotypes.
299
Cases presented with brain malformations and/or neurodevelopmental disorders, with the most frequently observed NDDs being developmental delay (DD) and/or intellectual disability (ID).
NA
NA
463472
0
1
1
mullegama_13_ASD/DD/ID_discovery_cases
Individuals with 2q23.1/MBD5 duplications; two cases previously reported in Chung et al. Eur J Hum Genet 2012 report. Only individuals with defined duplication start and end points (from Supplemental Table 1)were annotated.
30
Most prevalent phenotypic features: developmental delay (DD), motor delay, language impairment, behavioral problems, ASD/autistic features.
N/A
N/A
6500000
0
14
14
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
197026
0
1
1
qaiser_21_DD/ID/EP_discovery_cases
Patients with developmental and epileptic encephalopathies recruited from the Adult Epilepsy Genetics Program at Toronto Western Hospital (Toronto, Canada).
30
Case presented with developmental delay (DD), moderate intellectual disability (ID), and Lennox-Gastaut syndrome with multiple seizure types (EP).
23 yrs.
Female
28274
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
188933
5
1
6
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
89003
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
61000
1
0
1
yap_21_ASD_discovery_cases
ASD probands from the Australian Autism Biobank (AAB) screened for copy number variation after quality control (QC)
723
Cases diagnosed with ASD; additional clinical assessments were adminstered and questionnaries completed, including ADOS-2, ADOS-G, and VABS-II, while cognitive functioning and IQ was assessed using MSEL or WISC-IV.
Range, 2-17 yrs.
NA
152967
1
0
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
152526
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
247961
4
0
4
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
314642
5
1
6
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
74210
2
0
2
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
570000
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
100764
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
100765
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
42324
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.
34306
2
1
3
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
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
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bonnet_13_DD/ID_discovery_cases
France
aCGH
Agilent 44K, Agilent 105K
Feature Extraction V9.5.3.1, CGH Analytics V3.5.14
qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
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
aCGH (NimbleGen 135K array)
hodge_13_DD/ID/ASD_discovery_cases
N/A
aCGH, array SNP
Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
FISH, qPCR, array SNP (Affymetrix Cytoscan HD Array )
jaillard_09_DD_discovery_cases
French
aCGH
Agilent 4x44K, BACs aCGH
GenePix Pro 6, GenoCensus
FISH, PCR
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
mitani_21_DD/ID_discovery_cases
Turkey
WES, WGS
Illumina HiSeq2000, Illumina NovaSeq6000
NA
XHMM, HMZDelFinder, AluAluCNVpredictor, Parliament2
aCGH and/or ddPCR
mullegama_13_ASD/DD/ID_discovery_cases
N/A
N/A
N/A
N/A
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
qaiser_21_DD/ID/EP_discovery_cases
Canada
WGS
Illumina HiSeq X
NA
ERDS v.1.1), CNVnator v.0.3.2)
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
yap_21_ASD_discovery_cases
Predominantly European with additional individuals of South Asian, East Asian, African, and other ancestries
Solid phase hybridization
Illumina Global Screening Array v1 and v2
PennCNV, iPattern
GenomeStudio v.2.0.4
None
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
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)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
yuen_16_ASD_discovery_controls
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case180
1 yr.
F
Down syndrome, reduced hearing response, squint, right sided weakness. Growth parameters: height 0.74 m, weight 9 kg, head circumference 42 cm. Family history: no data on familial consanguinity.
147941185
148078393
137209
GRCh38
Deletion
No
annunziata_21_ASD_discovery_cases-caseIB245
NA
F
ASD
Case diagnosed with ASD (ADOS comparative score 10, ADOS social affect domain score 1.7, ADOS restricted and repetitive behaviors score 1.25). Birth/neonatal history: delivery at term by caesarean section following a normal pregnancy. EEG: currently normal; previous epilepsy with exodium in the first year with pharmalogical control by 30 months. Brain imaging: normal. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 50th-75th %ile, weight 75th %ile, head circumferene 75th %ile. Family history: negative.
Total IQ/GQ 80
147986339
148440909
454571
GRCh38
Deletion
Yes
bonnet_13_DD/ID_discovery_cases-patientA
3 yrs. 6 mos.
F
Developmental delay and autistic features
Birth/neonatal history: born prematurely without fetal distress; Z-scores of birth weight and length of -1, head circumference in normal range. Developmental milestones: global developmental delay; sitting independently at 16 months, walking at 2 years 6 months. Language and communication evaluation: spoke only single words. Behavioral/psychiatric evaluation: stereotypies and autistic features. Brain imaging: normal brain MRI. Dysmorphic features: isolated nostril anteversion. Growth parameters: height at -3.0 SD at age of 3 years 6 months. Family history: monozygotic twin sister with global developmental delay (); healthy father, healthy two first siblings, mother treated for epilepsy but treatment was interrupted during pregnancies.
Global developmental delay
147973457
148041737
68281
GRCh38
Deletion
Yes
bonnet_13_DD/ID_discovery_cases-patientB
3 yrs. 6 mos.
F
Developmental delay and autistic features
Birth/neonatal history: born prematurely without fetal distress; Z-scores of birth weight and length of -1, head circumference in normal range. Developmental milestones: global developmental delay; sitting independently at 17 months, walking at 3 years. Language and communication evaluation: spoke only single words. Behavioral/psychiatric evaluation: stereotypies and autistic features. Brain imaging: normal brain MRI. Dysmorphic features: isolated nostril anteversion. Growth parameters: height at -3.0 SD at age of 3 years 6 months. Family history: monozygotic twin sister with global developmental delay (); healthy father, healthy two first siblings, mother treated for epilepsy but treatment was interrupted during pregnancies.
Global developmental delay
147973457
148041737
68281
GRCh38
Deletion
Yes
bonnet_13_DD/ID_discovery_cases-patientC
4 yrs.
M
Intellectual disability
Birth/neonatal history: born following an uncomplicated full-term pregnancy; birth weight (3300 g), birth length (49 cm), and head circumference (37 cm) within normal range; normal neonatal adaptation; presented with hypospadias and devloped multiple bronchiolitis; surgically repaired inguinal hernia. Developmental milestones: global developmental delay; walking at 22 months; delayed language milestones. Behavioral/psychiatric evaluation: presented with stereotypies. Dysmorphic features: no specific facial dysmorphic features, 5th finger clinodactyly. Growth parameters: height of 99 cm (median), weight of 15 kg (median), and head circumference of 52 cm (+1 SD) at 4 years. Family history: healthy non-consanguineous parents; family history otherwise unremarkable.
Mild-to-moderate intellectual disability (estimated, as intelligence had not been formally evaluated)
148470679
148505535
34857
GRCh38
Duplication
Yes
bonnet_13_DD/ID_discovery_cases-patientD
3 yrs. 11 mos.
F
Developmental delay/intellectual disability and autistic features
Birth/neonatal history: uneventful pregnancy with the exception of hemorrhage related to partial placental detachment at 3 months of gestation; born at term with normal growth parameters. Developmental milestones: initial developmental milestones reportedly normal; walking at 19 months, first words pronounced at 13 months; regression of language skills occurred between 24 and 30 months of age with concomitant regression of response to social overture. Language and communication evaluation: oral dyspraxia. Motor and musculoskeletal evaluation: no motor deficit, ataxia. Behavioral/psychiatric evaluation: gradual development of problematic behavior, with stereotyped movements of the arms; periods of hyperactivity and attention deficit; autistic-like symptoms. Other features: slight symptoms of cerebellar syndrome. Dysmorphic features: round face, nostril anteversion, down-turned corners of the mouth. Growth parameters: within normal range. Family history: only child of healthy non-consanguineous parents.
Developmental delay/intellectual disability
148022512
148041737
19226
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case1-0375-003
N/A
M
ASD
Case from MSSNG cohort
149016826
149020083
3258
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11455
NA
M
ASD
NA
NA
148644996
148645186
191
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case104
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
148102175
148137244
35070
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296491
N/A
M
Developmental delay/intellectual disability
148122053
148244925
122873
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13153_1703
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
148060868
148104507
43640
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3424_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
148407404
148604429
197026
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000026
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S32
N/A
148768892
148781678
12787
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case1554
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1555
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1556
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1557
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1558
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1559
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1560
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1561
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1562
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1563
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1564
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1565
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1566
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1567
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1568
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1569
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1570
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1571
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1572
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case1573
NA
NA
Developmental delay
NA
NA
147965961
148535961
570001
GRCh38
Deletion
NA
girirajan_13a_ASD_discovery_cases-11917.p1
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
148064720
148212217
147498
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12390.p1
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
148092939
148294318
201380
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13595.p1
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
147964604
148072745
108142
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case10
12 yrs.
M
DD/ID/ASD
New phenotypic features: none. Family history: affected male sibling with 2q23.1/MBD5 deletion and new phenotypic features of cutis mamorata, sensory integration disorder, and anxiety.
147958360
148393789
435430
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case13
5 yrs.
F
DD/ID/ASD
New phenotypic features: none.
147952234
148101619
149386
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case14
7 yrs.
F
DD/ID/ASD
New phenotypic features: none.
147988713
148410547
421835
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case16
7 yrs.
M
DD/ID/ASD
New phenotypic features: bipolar disorder.
148329049
148376125
47077
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case4
5 yrs.
F
DD/ID/ASD
New phenotypic features: polydactyly, skin tgs, ventricular septal defect.
147969499
148122112
152614
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case5
12 yrs.
F
DD/ID/ASD
New phenotypic features: none.
148029482
148303194
273713
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case6
<1 yr.
M
DD/ID/ASD
New phenotypic features: diaphragmatic eventration, ventricular septal defect
148177218
148220153
42936
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case8
2 yrs.
M
DD/ID/ASD
New phenotypic features: none.
148440874
149091788
650915
GRCh38
Deletion
Yes
hodge_13_DD/ID/ASD_discovery_cases-case9
14 yrs.
M
DD/ID/ASD
New phenotypic features: cutis mamorata, sensory integration disorder, anxiety. Family history: affected male sibling with 2q23.1/MBD5 deletion.
147970758
148393789
423032
GRCh38
Deletion
Yes
jaillard_09_DD_discovery_cases-subject1
10 yrs.
M
Developmental delay
Case referred to genetics clinics for epilepsy, psychomotor retardation, gradual microcephaly, and ataxia. Birth/neonatal history: uneventful pregnancy and birth at 40 weeks; normal birth parameters (height, weight, and head circumference in 50th %ile); hip dysplasia detected. Langauge and communication evaluation: severe language impairment (unable to speak); able to communicate with pictures but not with language; able to understand some sentences. Motor and musculoskeletal evaluation: severe psychomotor retardation (could not stay seated before 2 years, walked with ataxia at 4 years); ataxia; scoliosis with hemivertebra of 8th thoracic vertebra. Behavioral/psychiatric evaluation: behavioral problems include reduced capacity for attention and episodes of inappropriate laughter. Sleep disturbances: None. Epilepsy/seizures: seizures noted between 3-9 months, seizures no longer occurring at 10 years. EEG: non-specific. Brain imaging: brain MRI revealed small cerebellar vermis with large posterior fossa. Vision: hypermetropia, astigmatism. Hearing: normal auditory evoked potentials. Recurrent infections: recurrent ear infections. Dysmorphic features: hypertelorism, flat nose, long eyelashes, large mouth, valgus feet, micorpenis. Other medical concerns and comorbidities: severe constipation with occlusive episodes and episodes of fecal incontinence. Growth parameters: height, -2 SD; weight, -1.5 SD; head circumference, -3 SD. Family history: third child of young non-consanguineous French parents.
Mental retardation
149062000
149319000
250000
Unknown
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0141
15 yrs.
M
ASD, ADHD, ID
Behavioral/psychiatric evaluation: ADHD. Family history: negative.
Intellectual disability (IQ < 70)
148157591
148226058
68468
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0027
31 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 27 years of age (core symptoms include persecutory delusions, auditory hallucinations). Physical comorbidities: hypertension. Brain imaging: mild frontal atrophy on brain CT. Family history: negative.
IQ > 70
148157591
148226058
68468
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0097
25 yrs.
M
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 15 years of age (core symptoms include commanding auditory hallucinations, passivity experiences), autistic traits. Family history: positive for MDD.
IQ > 70
148211972
148423169
211198
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0439
35 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 21 years of age (core symptoms include persecutory delusions, negative symptoms). Family history: positive for schizophrenia (SCZ).
IQ > 70
148139385
148242336
102952
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0926
51 yrs.
M
Schizophrenia, ID, epilepsy/seizures
Behavioral/psychiatric evaluation: onset of schizophrenia at 19 years of age (core symptoms include auditory hallucinations, aggressive behavior). Epilepsy/seizures: positive for epilepsy. Family history: negative.
Intellectual disability (IQ < 70)
147990605
148350066
359462
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2573
39 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
148158424
148226279
67856
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0141
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
148157590
148226058
68469
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1082
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
148293510
148403625
110116
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1365
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
148024331
148278720
254390
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0002
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148226057
148301801
75745
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0027
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148157590
148226058
68469
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0097
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148211971
148423169
211199
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0439
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148139384
148242336
102953
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0926
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
147990604
148350066
359463
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2573
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148158423
148226279
67857
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2939
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
148105612
148345802
240191
GRCh38
Deletion
Yes
mitani_21_DD/ID_discovery_cases-caseBAB9209
6 yrs.
M
Developmental delay, intellectual disability, and autistic features
Developmental delay/intellectual disability, microcephaly, autistic features, dysmorphic features (microcephaly, narrow forehead, upslanting palpebral fissures, bulbous nose, and prominent ear). Family history: affected maternal half-sibling does not carry this duplication.
148458757
148922228
463472
GRCh38
Duplication
Yes
mullegama_13_ASD/DD/ID_discovery_cases-case3424_3
N/A
M
ASD and ID
Autism, relative macrocephaly
Mild ID
148407404
148604429
197026
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseChung_1_2012
8 yrs.
M
DD and ASD/autistic features
Neurological/behavioral evaluation: developmental delay, motor delay, language impairment, autistic-like features, likeable/affable personality, behavioral problems, infantile hypotonia. Dysmorphic features: craniofacial abnormalities, midface hypoplasia, arched eyebrows, bilateral ptosis, long eyelashes, hypotelorism, prominent nose, wide mouth, small chin/micrognathia/retrognathia, hand/foot abnormalities. Ocular evaluation: strabismus.
Developmental delay
147934229
149486528
1552300
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseGC19184
8 yrs.
M
Developmental delay
Dysmorphic features, multiple joint contractures
Developmental delay
148413573
148650319
236747
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseGC3057
4 yrs.
F
Developmental delay
Cerebellar ataxia
Developmental delay
148413575
148650319
236745
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseGC59856
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148086611
154495963
6409353
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseGC61441
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148408244
148603651
195408
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseGC69358
N/A
N/A
DD and ASD/autistic features
N/A
N/A
147959778
149056800
1097023
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseLH020
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148270556
149509652
1239097
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseLH021
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148304507
148372496
67990
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseLH022
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148391153
149139313
748161
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseLH023
N/A
N/A
DD and ASD/autistic features
N/A
N/A
148409993
148604245
194253
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseMayo2
1 yr.
M
DD and ASD/autistic features
Neurological/behavioral evaluation: developmental delay, motor delay, language impairment, autistic-like features, behavioral problems, seizures, infantile hypotonia. Dysmorphic features: craniofacial anomalies.
Developmental delay
147969499
148102235
132737
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseMGH2
2 yrs.
F
DD and ASD/autistic features
Neurological/behavioral evaluation: developmental delay, motor delay, language impairment, autistic-like features, likeable/affable personality, behavioral problems, infantile hypotonia. Dysmorphic features: craniofacial anomalies, midface hypoplasia, hypotelorism, wide mouth, thin upper lip, small chin/micrognathia/retrognathia, hand/foot abnormalities.
Developmental delay
148440874
148677035
236162
GRCh38
Duplication
No
mullegama_13_ASD/DD/ID_discovery_cases-caseSMS376
15 yrs.
F
DD and ASD/autistic features
Neurological/behavioral evaluation: developmental delay, motor delay, language impairment, autistic-like features, likeable/affable personality, behavioral problems, seizures, infantile hypotonia. Dysmorphic features: craniofacial anomalies, arched eyebrows, bilateral ptosis, long eyelashes, hypotelorism, prominent nose, wide mouth, thin upper lip, unspecificed dental abnormalities, hand/foot abnormalities, 5th finger clinodactyly, sandal gap, first-second toe. Ocular evaluation: strabismus.
Developmental delay
148022511
148263297
240787
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case3424_003
NA
M
Autism
Relative macrocephaly, no dysmorphic features
Mild MR
148407404
148604429
197026
GRCh38
Duplication
Yes
qaiser_21_DD/ID/EP_discovery_cases-case10
23 yrs.
F
Developmental delay, intellectual disability, and seizures
Birth/neonatal history: patient was conceived by in vitro fertilization, twin sister died in utero due to alobar anencephaly. Developmental milestones: developmental delay (speech and language delay with first words at 4 years), delayed ability to sit (1 year), delayed ability to walk (2 years), delayed toilet training (6 years); developmental regression resulting in loss of speech, loss of ability to walk (wheelchair bound), and loss of sphincter control. Motor and musculoskeletal evaluation: movement disorder, diffuse muscle weakness, truncal instability, collapsing kyphosis. Behavioral/psychiatric evaluation: poor eye contact. Epilepsy/seizures: Lennox-Gastaut syndrome with afebrile seizure onset at 3 years; seizure types included tonic seizures, atonic seizures, generalized tonic-clonic seizures, and atypical absence seizures. EEG: fast paroxymsal activity, slow generalized sharp and wave discharges, multifocal independent spike foci, slow background. Additional medical history: hypogonadism, growth hormone deficiency, feeding difficulties (G-tube fed). Growth parameters: short stature (height < 3rd %ile), decreased body weight (<3rd %ile), microcephaly (head circumference <2nd %ile).
Moderate intellectual disability
148002010
148030283
28274
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
147937557
147973058
35502
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
148296332
148320088
23757
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
148800256
148801056
801
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11917.p1
8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
148086800
148212495
125696
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
148053129
148161266
108138
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12390.p1
6.5
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 97; verbal IQ, 75
148110619
148299552
188934
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT218
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with psychomotor delay.
148033110
148122112
89003
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case67
M
ASD
Broad forehead, large eyelashes, full cheeks, flattened nasal bridge, arched upper lip, arched palate, short neck, cryptorchid testes, ASD
148458465
148519863
61399
GRCh38
Deletion
No
yap_21_ASD_discovery_cases-case1101306
NA
F
ASD
147972884
148125850
152967
GRCh38
Deletion
No
yuen_16_ASD_discovery_cases-sample2-1279-003
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
147986847
148139372
152526
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0874-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
147949932
148197893
247962
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1279-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: seizures; migraines; overweight
147986932
148166031
179100
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1428-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: ADHD, intellectual disability; sensory issues. Woodbury-Smith et al. NPJ Genomic Medicine 2017 further characterized this case [Language and communication evaluation: OWLS standard score of 50 (<0.1 %ile), Children's Communication Checklist GCC score of 30 (1st %ile), Peabody Picture Vocabulary Test score of 86 (9th %ile, aged 7:4). Growth parameters: macrocephaly (head circumference 57.9 cm); height of 166.5 cm, weight of 58.1 kg).]
Woodbury-Smith et al. NPJ Genomic Medicine 2017 further characterized this case [Intellectual disability (WPPSI-IIIF FSIQ 53, verbal IQ 56, nonverbal IQ 65); Vineland Adaptive Behavior Scales communication 3rd %ile, daily living 1st %ile, social <1st %ile).
148085432
148305431
220000
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0108-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
148257432
148440431
183000
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0874-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
147946531
148197757
251227
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case13-0049-001
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
148336294
148393789
57496
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case13-0049-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
148336446
148393789
57344
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case158447
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
148203313
148517954
314642
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1428-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
148093606
148301766
208161
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0108-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
148257966
148440453
182488
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-control110036016178_
N/A
N/A
Control
No previous psychiatric history
148279443
148345065
65623
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
N/A
N/A
Control
No previous psychiatric history
148037259
148111469
74211
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control32
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
kushima_18_ASD/SCZ_discovery_controls-controlCON0292
27 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
148226058
148326821
100764
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0292
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
148226057
148326821
100765
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11424.s1
NA
F
Control
NA
NA
147990199
148032522
42324
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
148248756
148265105
16350
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
147997668
148031974
34307
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
148800256
148801056
801
GRCh38
Deletion
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-case180
Unknown
MBD5,ORC4
annunziata_21_ASD_discovery_cases-caseIB245
qPCR, FISH
Paternal
Simplex
MBD5,USP12P2,ORC4
bonnet_13_DD/ID_discovery_cases-patientA
qPCR
De novo
Multiplex (affected monozygotic twin sister)
Segregated
ORC4,MBD5
bonnet_13_DD/ID_discovery_cases-patientB
qPCR
De novo
Multiplex (affected monozygotic twin sister)
Segregated
ORC4,MBD5
bonnet_13_DD/ID_discovery_cases-patientC
qPCR
Unknown
Unknown
Unknown
MBD5
bonnet_13_DD/ID_discovery_cases-patientD
qPCR
De novo
Simplex
Segregated
MBD5
brandler_18_ASD_replication_cases-case1-0375-003
No validation step reported
Paternal
KIF5C
celestino-soper_11_ASD_discovery_cases-11455
Unknown
Simplex
NA
EPC2
cucinotta_23_ASD_discovery_cases-case104
Maternal
MBD5
digregorio_17_DD/ID_discovery_cases-DECIPHER_296491
Paternal
MBD5
engchuan_15_ASD_discovery_cases-case13153_1703
Unknown
MBD5
engchuan_15_ASD_discovery_cases-case3424_3
Unknown
RPS29P8,MBD5
fitzgerald_14_ASD/DD/ID_discovery_cases-case000026
De novo
Unknown
Unknown
EPC2
girirajan_12_ASD/DD/ID_discovery_cases-case1554
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1555
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1556
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1557
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1558
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1559
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1560
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1561
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1562
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1563
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1564
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1565
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1566
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1567
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1568
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1569
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1570
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1571
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1572
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_12_ASD/DD/ID_discovery_cases-case1573
NA
Unknown
Unknown
Unknown
ORC4,MBD5
girirajan_13a_ASD_discovery_cases-11917.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MBD5
girirajan_13a_ASD_discovery_cases-12390.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MBD5
girirajan_13a_ASD_discovery_cases-13595.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
ORC4,MBD5
hodge_13_DD/ID/ASD_discovery_cases-case10
qPCR
Likely inherited
Multiplex
Possibly segregated
ORC4,MBD5
hodge_13_DD/ID/ASD_discovery_cases-case13
FISH
Unknown
Unknown
Unknown
ORC4,MBD5
hodge_13_DD/ID/ASD_discovery_cases-case14
FISH
Unknown
Unknown
Unknown
ORC4,MBD5
hodge_13_DD/ID/ASD_discovery_cases-case16
Array SNP (Affymetrix Cytoscan HD Array)
Unknown
Unknown
Unknown
MBD5
hodge_13_DD/ID/ASD_discovery_cases-case4
Array SNP (Affymetrix Cytoscan HD Array)
De novo
Unknown
Unknown
ORC4,MBD5
hodge_13_DD/ID/ASD_discovery_cases-case5
FISH
Unknown
Unknown
Unknown
MBD5
hodge_13_DD/ID/ASD_discovery_cases-case6
Array SNP (Affymetrix Cytoscan HD Array)
Unknown
Unknown
Unknown
MBD5
hodge_13_DD/ID/ASD_discovery_cases-case8
FISH
De novo
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,MBD5,EPC2,LYPD6B,KIF5C
hodge_13_DD/ID/ASD_discovery_cases-case9
qPCR
Likely inherited
Multiplex
Possibly segregated
ORC4,MBD5
jaillard_09_DD_discovery_cases-subject1
PCR, FISH
De novo
Simplex
Likely segregated
MBD5, EPC2
kushima_18_ASD_discovery_cases-caseASD0141
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Simplex
Unknown
MBD5
kushima_18_SCZ_discovery_cases-caseSCZ0027
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Simplex
MBD5
kushima_18_SCZ_discovery_cases-caseSCZ0097
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
De novo
Not simplex
Not segregated
MBD5
kushima_18_SCZ_discovery_cases-caseSCZ0439
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Not simplex
MBD5
kushima_18_SCZ_discovery_cases-caseSCZ0926
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
ORC4,MBD5
kushima_18_SCZ_discovery_cases-caseSCZ2573
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
MBD5
kushima_22_ASD_discovery_cases-caseASD0141
qRT-PCR
Paternal
MBD5
kushima_22_BPD_discovery_cases-caseBD1082
qRT-PCR
Unknown
MBD5,USP12P2
kushima_22_BPD_discovery_cases-caseBD1365
qRT-PCR
Unknown
MBD5
kushima_22_SCZ_discovery_cases-caseSCZ0002
qRT-PCR
Unknown
MBD5,USP12P2
kushima_22_SCZ_discovery_cases-caseSCZ0027
qRT-PCR
Paternal
MBD5
kushima_22_SCZ_discovery_cases-caseSCZ0097
qRT-PCR
De novo
MBD5,USP12P2
kushima_22_SCZ_discovery_cases-caseSCZ0439
qRT-PCR
Paternal
MBD5
kushima_22_SCZ_discovery_cases-caseSCZ0926
qRT-PCR
Unknown
MBD5,USP12P2,ORC4
kushima_22_SCZ_discovery_cases-caseSCZ2573
qRT-PCR
Unknown
MBD5
kushima_22_SCZ_discovery_cases-caseSCZ2939
qRT-PCR
Unknown
MBD5,USP12P2
mitani_21_DD/ID_discovery_cases-caseBAB9209
aCGH and/or ddPCR
De novo
Multiplex
Not segregated
MBD5,KIF5C,RPS29P8,RPS20P13,USP8P2,RNU2-9P,KIF5C-AS1,UBBP3,EPC2
mullegama_13_ASD/DD/ID_discovery_cases-case3424_3
Maternal (unaffected mother)
Unknown
Unknown
RPS29P8,MBD5
mullegama_13_ASD/DD/ID_discovery_cases-caseChung_1_2012
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,ORC4,MBD5,EPC2,LYPD6B,LYPD6,KIF5C
Increased MBD5 expression (as determined by qPCR in patient LCLs)
mullegama_13_ASD/DD/ID_discovery_cases-caseGC19184
Maternal (unaffected mother)
Unknown
Unknown
RPS29P8,MBD5,EPC2
mullegama_13_ASD/DD/ID_discovery_cases-caseGC3057
Maternal (unaffected mother)
Unknown
Unknown
RPS29P8,MBD5,EPC2
mullegama_13_ASD/DD/ID_discovery_cases-caseGC59856
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,RNU6-601P,FABP5P10,MIR4773-2,MIR4773-1,RN7SL124P,RPL30P2,UBQLN4P2,ATP5PBP4,RPRM,DNAJA1P2,PHBP4,MMADHC,LINC01817,LINC01920,NMI,TNFAIP6,RIF1,ARL5A,ARL6IP6,RPL23AP29,MBD5,EPC2,LYPD6B,LYPD6,LINC01931,LINC01818,RND3,RBM43,NEB,STAM2,FMNL2,PRPF40A,LINC01850,KIF5C,CACNB4,GALNT13
mullegama_13_ASD/DD/ID_discovery_cases-caseGC61441
Unknown
Unknown
Unknown
RPS29P8,MBD5
mullegama_13_ASD/DD/ID_discovery_cases-caseGC69358
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,ORC4,MBD5,EPC2,LYPD6B,KIF5C
mullegama_13_ASD/DD/ID_discovery_cases-caseLH020
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,FAM8A3P,MBD5,EPC2,LYPD6B,LYPD6,KIF5C
mullegama_13_ASD/DD/ID_discovery_cases-caseLH021
Unknown
Unknown
Unknown
MBD5
mullegama_13_ASD/DD/ID_discovery_cases-caseLH022
Unknown
Unknown
Unknown
RPS29P8,RNU2-9P,UBBP3,TXNP5,MBD5,EPC2,LYPD6B,KIF5C
mullegama_13_ASD/DD/ID_discovery_cases-caseLH023
Unknown
Unknown
Unknown
RPS29P8,MBD5
mullegama_13_ASD/DD/ID_discovery_cases-caseMayo2
Unknown
Unknown
Unknown
ORC4,MBD5
mullegama_13_ASD/DD/ID_discovery_cases-caseMGH2
Unknown
Unknown
Unknown
RPS29P8,MBD5,EPC2
mullegama_13_ASD/DD/ID_discovery_cases-caseSMS376
Unknown
Unknown
Unknown
MBD5
Increased MBD5 expression (as determined by qPCR in patient LCLs)
pinto_10_ASD_discovery_cases-case3424_003
qPCR-Maternal
maternal
Simplex
NA
RPS29P8,MBD5
qaiser_21_DD/ID/EP_discovery_cases-case10
Unknown
MBD5,ORC4
sanders_11_ASD_discovery_cases-11001.p1
Unknown
Simplex (trio)
NA
ORC4
sanders_11_ASD_discovery_cases-11712.p1
Paternal
Simplex (quad-proband matched)
Segregated
MBD5
sanders_11_ASD_discovery_cases-11916.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11917.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MBD5
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
MBD5
sanders_11_ASD_discovery_cases-12390.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MBD5
sandoval_talamantes_23_ASD_discovery_cases-caseAUT218
Unknown
MBD5
tzetis_12_DD/ID_discovery_cases-case67
De novo
Unknown
MBD5
yap_21_ASD_discovery_cases-case1101306
Maternal
MBD5,ORC4
yuen_16_ASD_discovery_cases-sample2-1279-003
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
ORC4,MBD5
yuen_17_ASD_discovery_cases-case1-0874-003
Affymetrix CytoScanHD
De novo
Simplex
Segregated
ORC4,MBD5
yuen_17_ASD_discovery_cases-case2-1279-003
Affymetrix 6.0
De novo
Simplex
Segregated
ORC4,MBD5
yuen_17_ASD_discovery_cases-case2-1428-003
Affymetrix CytoScan HD
Paternal
Simplex
Not segregated (Woodbury-Smith et al., NPJ Genomic Medicine 2017 reported that this deletion was also observed in an unaffected sibling)
MBD5
yuen_17_ASD_discovery_cases-case7-0108-003
Affymetrix CytoScanHD
Unknown
Simplex
Unknown
MBD5
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0874-003
RT-qPCR or WGS
De novo
ORC4,MBD5
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case13-0049-001
RT-qPCR or WGS
Maternal
MBD5
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case13-0049-004
RT-qPCR or WGS
Maternal
MBD5
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case158447
RT-qPCR or WGS
Unknown
MBD5
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1428-003
RT-qPCR or WGS
Paternal
MBD5
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0108-003
RT-qPCR or WGS
Unknown
MBD5
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036016178_
Unknown
MBD5
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
Unknown
MBD5
girirajan_13a_ASD_discovery_controls2-control32
Unknown
MBD5
kushima_18_ASD/SCZ_discovery_controls-controlCON0292
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
MBD5
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON0292
qRT-PCR
Unknown
MBD5,USP12P2
levy_11_ASD_discovery_controls-11424.s1
Maternal
Simplex
NA
ORC4,MBD5
sanders_11_ASD_discovery_controls-11043.s1
Maternal
Simplex (quad)
NA
MBD5
sanders_11_ASD_discovery_controls-11424.s1
Maternal
Simplex (quad)
NA
ORC4,MBD5
sanders_11_ASD_discovery_controls-11916.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available