Xp11.22CNV Type: Deletion-Duplication
Largest CNV size: 89961 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenomic determinants of genomic variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
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.
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Deletion-Duplication
Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
65743
0
1
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
1715
0
1
1
de_wolf_14_ASD/ID_discovery_cases
First child of healthy, unrelated parents with no family history of autism who presented with syndromic autism
1
Case diagnosed with ASD at age of 18 years (diagnostic tools N/A); case also presented with intellectual disability (ID) and Aarskog syndrome
20 yrs.
Male
254000
2
0
2
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
177000
0
1
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
299929
0
1
1
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
231855
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
132805
2
0
2
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
4335995
2
4
6
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
84862
1
1
2
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
49812
0
3
3
li_24_ASD/ADHD/DD/ID_discovery_cases
Children diagnosed with developmental delay/intellectual disability at the Children's Medical Center of the Affiliated Hospital of Guangdong Medical University between January 2020 and December 2022.
173
All cases were diagnosed with developmental delay/intellectual disability (DD/ID); additional diagnoses included ASD (11/173, 6.4%) and ADHD (21/173, 12.1%).
Mean age, 3.8 +/- 5.2 yrs.
59.53% Male
61435
0
1
1
lopergolo_21_ASD/DD/ID/EP_discovery_cases
Individuals with IQSEC2 variants (including five novel patients with CNVs) recruited in five different centers (Italy, Spain, Belgium, Switzerland and Nicaragua) due to a collaborative research call of the European Reference Network Ithaca (Intellectual disability, TeleHealth, And Congenital Anomalies).
21
Patients frequently presented with intellectual disability and epilepsy, with a diagnosis of autism spectrum disorder reported in a majority of patients.
Range, 20 mos.-46 yrs.
42.86% Male
442025
1
4
5
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
557000
0
1
1
moey_15_ASD/DD/ID/EP_discovery_cases
Four novel male cases with Xp11.22 microduplications incluidng the genes TSPYL2, KDM5C, and IQSEC2; all four patients are located in DECIPHER
4
Cases presented with developmental delay/intellectual disability (DD/ID), delayed speech development, behavioral problems (ASD in one case), and epilepsy/seizures (1 case)
Range, 4-14 yrs.
Male
1441000
0
4
4
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
1213000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
10852
0
1
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
10100
0
1
1
panigrahi_24_ASD/DD/ID_discovery_cases
Patients seen in the Genetic Clinic of a tertiary care center in India in the last six years and screened for chromosomal duplication syndromes.
32
Neurodevelopmental phenotypes observed in individuals from this cohort included autism spectrum disorder (ASD), developmental delay (DD), and intellectual disability (ID).
Age of diagnosis range, 4 mos.-14 yrs. (median 3 yrs.)
78.125% Male
410489
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
168076
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
170685
0
2
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
72641
0
1
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
9370
1
1
2
qiao_08_ASD_discovery_cases
Affected brothers born to phenotypically normal, non-consanguineous parents with no family history of ASD; family from Autism Spectrum Disorders-Canadian American Research Consortium (ASD-CARC)
2
ASD. Diagnosis made using ADI-R and/or ADOS
Range, 10-12 yrs.
100% Male
470000
2
0
2
qiao_08_ASD_replication_cases
ASD cases recruited by ASD-CARC or AGRE
400
ASD. Diagnosis made using ADI-R and/or ADOS
NA
79.75% Male
470000
0
0
0
qiao_09_ASD_discovery_cases
Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
100
ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
Range, 2-40 yrs.
76% Male
500000
2
0
2
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
89961
3
1
4
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
Individuals from 47 families on whom optical genome mapping (OGM) was performed using ultra-high molecular weight DNA
51
All individuals in this cohort presented with mild to profound syndromic and non-syndromic intellectual disability
11404
2
0
2
tran_mau-them_13_ID_discovery_cases
Male patients with severe X-linked intellectual disability and truncating duplications in IQSEC2
2
Severe intellectual disability, seizures, autistic features, midline stereotypies, and strabismus
Range, 4-28 yrs.
Male
42000
0
2
2
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
23780
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
171501
0
3
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
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)
9370
0
0
0
qiao_08_ASD_discovery_controls
Control group of 282 X chromosomes from anonymous blood samples
186
Control
NA
48.39% Male
470000
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.
28108
6
0
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
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
de_wolf_14_ASD/ID_discovery_cases
aCGH
Agilent 244K
qPCR, FISH
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
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)
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
li_24_ASD/ADHD/DD/ID_discovery_cases
China
WES
MGISEQ-2000RS
Weaver
FastQC
lopergolo_21_ASD/DD/ID/EP_discovery_cases
Predominantly European
aCGH
Agilent 60K
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
moey_15_ASD/DD/ID/EP_discovery_cases
N/A
aCGH, array SNP
Affymetrix CytoScan HD, Agilent 4x180K
FISH
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
panigrahi_24_ASD/DD/ID_discovery_cases
India
Array SNP
Affymetrix CytoScan 750K
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
MLPA, MAQ
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
qiao_08_ASD_discovery_cases
Caucasian
aCGH, qPCR
1-Mb BACs aCGH
SpectralWare V2 (Spectral Genomics)
qPCR; FISH
qiao_08_ASD_replication_cases
NA
qPCR
qiao_09_ASD_discovery_cases
NA
aCGH
BACs aCGH
FISH; qPCR
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
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases
USA/Finland
Optical genome mapping
Saphyr (Bionano Genomics)
Bionano Solve v.3.7.
Posteriori visualization in IGV, CMA (CytoSure Medical Research Exome Array)
tran_mau-them_13_ID_discovery_cases
European
aCGH
Agilent SurePrint G3 180K
Cytogenomics 2.0 or DNA Analytics v4.0.85
qPCR, FISH, aCGH (Agilent SurePrint G3 1M)
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
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qiao_08_ASD_discovery_controls
NA
qPCR
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
annunziata_21_ASD_discovery_cases-caseIB355
NA
M
ASD
Case diagnosed with ASD (not tested with ADOS). Birth/neonatal history: suspected placental abruption at 12 weeks gestation (treated with maternal rest); delivery at term by emergency caesarean section due to fetal distress. EEG: ESES pattern. Brain imaging: thin corpus callosum (hypoplastic rostrum), minimal widening of the perivascular spaces. Additional medical history: multiple congenital malformations. Dysmorphic features: peculiar facial characteristics. Growht parameters: height 3rd %ile, weight <3rd %ile, head circumference 3rd %ile. Family history: negative.
Total IQ/GQ 40
53530002
53595744
65743
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
53279596
53281311
1716
GRCh38
Duplication
No
de_wolf_14_ASD/ID_discovery_cases-case1
20 yrs.
M
ASD, ID, and Aarskog syndrome
Case diagnosed with ASD at age of 18 years based on presence of deficits in the three core domains of autism (diagnostic tools N/A). Birth/neonatal history: born at term; birth weight of 2.5 kg, length of 49 cm, OFC of 35 cm; diagnosed with cleft palate, hypotonia, and developmental delay. Dysmorphic features: features reminiscent of Aarskog syndrome; swan-neck deformity of the fingers, widely spaced eyes, ptosis of the eyelids, anteversion of the nostrils, shawl scrotum, bilateral patellar subluxation. Growth parameters: weight of 62.8 kg (-1 SD), height of 171.2 cm (-1.4 SD), and OFC of 54.3 cm (-1.3 SD) at age of 20 years. Family history: first child of healthy, unrelated parents; unaffected sister; family history negative for autism.
Intellectual disability; full scale IQ of 65, performance IQ of 72, and verbal IQ of 65 measured ar age of 18 years.
54457025
54480481
23457
GRCh38
Deletion
Yes
de_wolf_14_ASD/ID_discovery_cases-case1
20 yrs.
M
ASD, ID, and Aarskog syndrome
Case diagnosed with ASD at age of 18 years based on presence of deficits in the three core domains of autism (diagnostic tools N/A). Birth/neonatal history: born at term; birth weight of 2.5 kg, length of 49 cm, OFC of 35 cm; diagnosed with cleft palate, hypotonia, and developmental delay. Dysmorphic features: features reminiscent of Aarskog syndrome; swan-neck deformity of the fingers, widely spaced eyes, ptosis of the eyelids, anteversion of the nostrils, shawl scrotum, bilateral patellar subluxation. Growth parameters: weight of 62.8 kg (-1 SD), height of 171.2 cm (-1.4 SD), and OFC of 54.3 cm (-1.3 SD) at age of 20 years. Family history: first child of healthy, unrelated parents; family history negative for autism.
Intellectual disability; full scale IQ of 65, performance IQ of 72, and verbal IQ of 65 measured ar age of 18 years.
53878111
54132879
254769
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300767
N/A
M
Developmental delay/intellectual disability
53700752
53878140
177389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18087_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52761526
53061354
299829
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263219
N/A
M
Developmental delay
Delayed speech and language development; Abnormal facial shape; Microcephaly; Intrauterine growth retardation; Global developmental delay; Clinodactyly of the 5th finger; Persistence of primary teeth; Nasal speech; Brachydactyly syndrome
53422383
53654244
231862
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case49
4 yrs. 10 mos.
F
Developmental delay/intellectual disability
Facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis. Karyotype: 9phqh, 17ps.
Developmental delay/intellectual disability
53420535
53553329
132795
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case50
4 yrs.
F
Developmental delay/intellectual disability and autism
Autism, Rett syndrome-like phenotype
Developmental delay/intellectual disability
53420535
53553328
132794
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001783
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50916108
53902080
2985973
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002039
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53374742
53543761
169020
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53511777
53575140
63364
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005003
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50086006
54030240
3944235
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005096
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53403791
54030240
626450
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005305
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53375808
53415949
40142
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11129.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
50910783
50916607
5825
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12378.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
50106241
50191117
84877
GRCh38
Duplication
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case29
7 yrs.
F
Developmental delay
History of developmental delay, polydactyly
53195841
53211511
15671
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case37
13 yrs.
M
Intellectual disability
Intellectual disability
53401148
53450931
49784
GRCh38
Duplication
No
lee_17_ASD/DD/ID/MCA_discovery_cases-case38
20 yrs.
F
Developmental delay
History of developmental delay, convulsion
53401148
53450934
49787
GRCh38
Duplication
No
li_24_ASD/ADHD/DD/ID_discovery_cases-case54
4 yrs.
F
Developmental delay, intellectual disability, and epilepsy
Severe developmental delay/intellectual disability, speech delay, epilepsy, hypotonia, obvious happy behavior, short stature, abnormal brain MRI (cerebral dysplasia); asymptomatic parents
Severe developmental delay/intellectual disability
53533981
53595415
61435
GRCh38
Duplication
No
lopergolo_21_ASD/DD/ID/EP_discovery_cases-case17
7 yrs.
M
ASD, developmental delay, intellectual disability, and epilepsy/seizures
Developmental milestones: delayed ability to sit (30 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: inability to walk, hypotonia, stereotypies, absent use of hands. Behavioral/psychiatric evaluation: ASD, restlessness. Epilepsy/seizures: generalized tonic-clonic seizures (onset at 5 years). Brain imaging: periventricular and frontal delayed myelination. Additional medical history: constipation, lactose intolerance. Growth parameters: increased body weight (>99th %ile, +3.69 SD).
Severe-profound intellectual disability
53241773
53267074
25302
GRCh38
Duplication
lopergolo_21_ASD/DD/ID/EP_discovery_cases-case18
19 yrs.
F
ASD, developmental delay, intellectual disability, and epilepsy/seizures
Birth/neonatal history: delivery by caesarean section, small for gestational age (8th %ile). Developmental milestones: delayed ability to sit (14 months), delayed ability to walk (2 years), speech delay (babble speech at 1 years, never acquired language with phrases), developmental regression (regression of use of hands at 2 years). Behavioral/psychiatric evaluation: ASD, behavioral disturbances, teeth grinding, washing stereotypy (hands to face since 17 months of age). Epilepsy/seizures: generalied seizures (onset at 9 years). EEG: abnormal (generalized discharges activated in sleep, slow background). Additional medical history: small and cold feet.
Moderate intellectual disability
52925331
53367355
442025
GRCh38
Deletion
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p19
14 yrs.
M
Developmental delay, intellectual disability, epilepsy/seizures, and autistic features
Developmental milestones: developmental delay, delayed ability to sit (21 months), delayed ability to walk (24 months). Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hypotonia, gait ataxia, problems in walking, problems with maintaining balance, repetitive hand movements. Behavioral/psychiatric evaluation: autistic behavior, auto/hetero-aggressive behavior. Epilepsy/seizures: tonic-clonic seizures (onset at 9 years), epileptic activity in the left frontal lobe. Family history: two similarly affected family members.
Severe intellectual disability
53271255
53312670
41416
GRCh38
Duplication
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p20
19 yrs.
F
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: large for gestational age (birth weight 97th %ile). Developmental milestones: speech delay (first words at 2 years, phrases at 3.5 years). Motor and musculoskeletal evaluation: clumsiness, poor motor coordination. Behavioral/psychiatric evaluation: autistic behavior.
Moderate intellectual disability
53271255
53312670
41416
GRCh38
Duplication
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p21
45 yrs.
F
Intellectual disability and autistic features
Motor and musculoskeletal evaluation: clumsiness, poor motor coordination. Behavioral/psychiatric evaluation: autistic behavior. Family history: two similarly affected offspring (one male, one female).
Moderate intellectual disability
53271255
53312670
41416
GRCh38
Duplication
maini_18_ASD/DD/ID_discovery_cases-case127
7 yrs.
F
Intellectual disability
Birth history: born at 40 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: congenital heart defects. Dysmorphic features: no reported dysmorphic features. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
50596390
51153833
557444
GRCh38
Duplication
No
moey_15_ASD/DD/ID/EP_discovery_cases-patient1
4 yrs.
M
Speech delay
Patient in DECIPHER database (DECIPHER ID 306072). Birth/neonatal history: born at term after uncomplicated gestation; birth weight of 3150 g (25th-50th %ile). Developmental milestones: delayed speech development (no words until approximately 3 years of age). Language and communication evaluation: slow progression of language, only 4-5 words by age of 4 years. Behavioral/psychiatric evaluation: poor socialization with recent improvement. Dysmorphic features: downward corners of the mouth. Growth parameters: weight of 23 kg (>95th %ile), height of 108 cm (90th %ile), and head circumference of 50.4 cm (between average and -2 SD). Family history: both parents were healthy and cognitively normal.
52925332
53286360
361029
GRCh38
Duplication
No
moey_15_ASD/DD/ID/EP_discovery_cases-patient2
14 yrs.
M
ASD and ID
Patient in DECIPHER database (DECIPHER ID 27212). Birth/neonatal history: pregnancy complicated by hypertension, labor was induced at 39 weeks of gestation due to preeclampsia; delivered by forceps delivery for fetal distress; birth weight of 3014 g (25th-50th %ile) and head circumference of 35 cm (50th-75th %ile); neonatal jaundice persisting for 10.5 weeks; poor feeder, slow to gain weight; unhappy baby who screamed a lot and did not like being touched. Developmental milestones: sat later; first walked at normal time. Motor and musculoskeleta evaluation: clumsy, diagnosed with dyspraxia at age of 8 years. Behavioral/psychiatric evaluation: required assistance with daily living activities and reported to have poor social skills at age of 19 years; avoided eye contact; challenging behavior with physical aggression when frustrated and had obsessions about articular items, which he collected. Dysmorphic features: none. Family history: history of mild-to-moderate learning difficulties and autistic traits in three maternal male cousins, two of whom also have microduplication (the third maternal male cousin that lacks this microduplication is clinically less severe and more academically able); the patient's mother and her two sisters are normal with no ID or behavioral problems.
Mild-moderate ID; learning difficulties, transferred to special school at age of 11 years.
52882267
53285828
403562
GRCh38
Duplication
Yes
moey_15_ASD/DD/ID/EP_discovery_cases-patient3
5 yrs. 8 mos.
M
Developmental delay and behavioral problems
Patient in DECIPHER database (DECIPHER ID 308362). Birth/neonatal history: born at term following normal pregnancy. Developmental milestones: absence of crawling at 1 year of age, independent walking at 2 years of age; delayed speech development (no words until approximately 3 years of age). Language and communication evaluation: speaks fluently in conversational speech, but had significant ongoing issue with pronunciation, at age of 5 years 8 months. Behavioral/psychiatric evaluation: significant behavioral problems requiring assistance in a special education class. Growth parameters: height of 102.5 cm (5th %ile), weight of 16.3 kg (10th %ile), and head circumference of 50.5 cm (40th %ile). Family history: both parents were healthy.
Global developmental delay
52760162
53339721
579560
GRCh38
Duplication
No
moey_15_ASD/DD/ID/EP_discovery_cases-patient4
9 yrs.
M
ID and epilepsy
Patient in DECIPHER database (DECIPHER ID 24942). Birth/neonatal history: born at 38 weeks gestation following period of intrauterine growth retardation (IUGR) and oligohydramnios detected by ultrasound at 35 weeks; birth weight of 2550 g (3rd %ile), length of 46 cm (3rd-10th %ile), and head circumference of 31 cm (1 cm smaller than 3rd %ile). Developmental milestones: developmental delay first noted at 6 months, review at age of 9 years revealed severe developmental delay (patient could sit and shuffle on his bottom but was non-ambulant, was able to smile and shake hards but has no words and little receptive language). Motor and musculoskeletal evaluation: hypotonia; hands and feet measure on 3rd %ile. Epilepsy/seizures: myoclonic seizures with no recognizable electroclinical syndrome; seizures commenced at age of 5 years and vary from several seizures per day to a seizure per month, most seizures occur shortly after falling asleep, sodium valproate improved seizure control; at age of 9 years, seizures occurred with a frequency of approximately one per month. Additional medical history: the patient had a fundoplication with percutaneous entrogastrostomy tube due to gastroesophageal reflux. Dysmorphic features: finely arched eyebrows, short nose, down-turned corners of the mouth; hypogonadism (small penis with undescended testes). Growth parameters: microcephaly; weight of 25 kg (25th %ile), height of 120 cm (3rd %ile), and head circumference of 48 cm (1.5 cm smaller than 2nd %ile). Family history: N/A.
Severe ID
52523686
53756398
1232713
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case20
15 yrs.
M
ASD and intellectual disability
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Dysmorphic features: present.
Intellectual disability
53432231
54645872
1213642
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-214-1
ASD
51278373
51289224
10852
Unknown
Duplication
No
oikonomakis_16_ASD_discovery_cases-case562
4 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: absent speech
53422499
53432567
10069
GRCh38
Duplication
No
panigrahi_24_ASD/DD/ID_discovery_cases-case10
4 yrs.
M
Behavioral problems, delayed bone age.
53628039
54038527
410489
GRCh38
Duplication
No
pfundt_16_NDD_discovery_cases-case47
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: Xp11.22-linked intellectual disability in male patint
53432246
53600310
168065
GRCh38
Duplication
Yes
pfundt_16_nonNDD_discovery_cases-case51
N/A
N/A
Non-NDD
Disease cohort: muscle disorder. Description: Xp11.22-linked intellectual disability in male patint
53431987
53602659
170673
GRCh38
Duplication
Yes
pfundt_16_nonNDD_discovery_cases-case62
N/A
N/A
Non-NDD
Disease cohort: cancer. Description: Xp11.22-linked intellectual disability in male patient
53431987
53602659
170673
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case17018_1
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
53524572
53597217
72646
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case111521L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
54561865
54570703
8839
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case46736
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
52861793
52871162
9370
Unknown
Duplication
No
qiao_08_ASD_discovery_cases-subject1
10 yrs.
M
ASD
Autistic behavior: ADOS/ADI-R, CARS and DSM-IV confirmed ASD with delayed receptive and expressive language skills, impulsivity, hyperactivity, inattentiveness and stereotypical behaviors. Dysmorphic features: hypertelorism; right-sided facial asymmetry; coarse facies; prominent supraorbital ridges; broad nasal root, bridge and notched tip; low-set large ears with thick helices; micro-retrognathia; unilateral cleft lip/palate; long, thin fingers and broad halluces. CNS findings: normal EEG, brain CT and MRI; high pain threshold, mild to moderate conductive hearing loss. Growth parameters: height, 90th %ile; weight, 50th %ile; OFC, 35th %ile. Family history: no family history of ASD.
Moderate intellectual disability (ID)
53977546
54449546
472001
GRCh38
Deletion
Yes
qiao_08_ASD_discovery_cases-subject2
12 yrs.
M
ASD
Autistic behavior: ADOS/ADI-R, CARS and DSM-IV confirmed ASD with delayed receptive and expressive language skills, impulsivity, hyperactivity, inattentiveness and stereotypical behaviors. Dysmorphic features: Hypertelorism; right-sided facial asymmetry; coarse facies; prominent supraorbital ridges; long sloping forehead; broad nasal root, bridge and notched tip; low-set large ears with thick helices; tongue-tie and unilateral lip/palate with bifid uvula; long, thin fingers and broad hallcues. CNS findings: normal EEG, brain CT and MRI; high pain threshold, conductive and sensorineural hearing loss. Growth parameters: height, 60th %ile; weight, 50th %ile; OFC, 5th %ile. Family history: no family history of ASD.
Moderate intellectual disability (ID)
53977546
54449546
472001
GRCh38
Deletion
No
qiao_09_ASD_discovery_cases-case8
Range, 11-15
M
Autism
Phenotype Score: 5. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Seizures: none. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree co-relationship).
Moderate intellectual disability (IQ between 35 & 50)
53970960
54326640
500000
Unknown
Deletion
Yes
qiao_09_ASD_discovery_cases-case9
Range, 11-15
M
Autism
Phenotype Score: 5. Growth parameters: normal. Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Seizures: none. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree relationship).
Moderate intellectual disability (IQ between 35 & 50)
53970960
54326640
500000
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
50910775
50947620
36846
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
52597280
52687241
89962
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
53845117
53887040
41924
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13083.p1
7.5
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 67; verbal IQ, 23
51991268
52019071
27804
GRCh38
Deletion
No
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN78-3
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: several apnea attacks until 9 months of age. Developmental milestones: delayed ability to walk (19 months), delayed speech development. Motor and musculoskeletal evaluation: tapering finger, repetitive facial and hand motor movements. Behavioral/psychiatric evaluation: diagnosis of autism. Dysmorphic features: unilateral cleft lip and palate, broad nose, thin upper lip, low-set ears, dysmorphic earlobes. Growth parameters: microcephaly (<-2 SD-2.5 SD). Family history: affected older brother who also has the deletion, which was inherited from their unaffected mother.
Mild intellectual disability
54038034
54049437
11404
GRCh38
Deletion
Yes
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN78-4
M
ADHD
Diagnosis of ADHD, repetitive facial and hand motor movements, small head (-1.5 SD). Family history: affected older brother who also has the deletion, which was inherited from their unaffected mother.
54038034
54049437
11404
GRCh38
Deletion
No
tran_mau-them_13_ID_discovery_cases-patient1
4 yrs.
M
Intellectual disability and autistic features
Birth/neonatal history: uneventful pregnancy; bron at 37.5 weeks gestation full term by C-section due to abnormal presentation; birth measurements in normal range (OFC +1 SD, birth weight mean, birth length +1 SD); postnatal course marked by psychomotor retardation with neonatal hypotonia, hyperkinesia, strabismus, and non-inherited progressive neonatal microcephaly with OFC -2 SD at 6 months of age. Developmental milestones: sitting at 12 months, did not vocalize at 15 months. Language and communication evaluation: no language acquistion. Motor and musculoskeletal evaluation: unable to walk alone, no purposeful hand skills. Behavioral/psychiatric evaluation: stereotypic hand movements (hand washing/rubbing automatisms); additional behavioral disturbances such as self-injury and unexplained crying episodes. Epilepsy/seizures: epilepsy with generalized myoclonic seizures started at age of 4 years. Brain imaging: normal brain MRI with spectroscopy. Ocular evaluation: hypermetropia leading to strabismus. Dysmorphic features: normal facial features. Growth parameters: OFC -2.5 SD, weight +2 SD, length +1 SD. Family history: only child born to healthy unrelated parents native to the south of France.
Severe ID
53254331
53296102
41772
GRCh38
Duplication
Yes
tran_mau-them_13_ID_discovery_cases-patient3
28 yrs.
M
Intellectual disability and autistic features
Birth/neonatal history: uneventful pregnancy; born at term by breech presentation; normal birth weight; neonatal hypotonia. Developmental milestones: langauge partially acquired, but delayed; able to walk alone at age of 2.5 years; developmental regression sometime after 3 years of age. Language and communication evaluation: language regression between ages of 3 and 28 years. Motor and musculoskeletal evaluation: motor skill regression between ages of 3 and 28 years. Behavioral/psychiatric evaluation: midline stereotypic hand movements at 3 years of age; behavioral disturbances including self injury. Epilepsy/seizures: partial epilepsy at 3 years of age. Brain imaging: cerebral atrophy, with nonspecific hypersignal foci in periventricular white matter. Dysmorphic features: minor facial features (high forehead, short philtrum, full lips). Growth parameters: measurements within normal range (OFC -0.5 SD, weight +2 SD, length +1 SD). Family history: first child born to healthy unrelated parents.
Severe ID
53246848
53269290
22443
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1693-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
53393823
53417572
23750
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-controlB566219_1007852909
N/A
N/A
Control
No previous psychiatric history
53763295
53902165
138871
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
N/A
N/A
Control
No previous psychiatric history
52792229
52861425
69197
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
N/A
N/A
Control
No previous psychiatric history
51997640
52169141
171502
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
50525200
50553308
28109
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
54345901
54350119
4219
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
51997640
52019071
21432
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
52975184
52995775
20592
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
51997640
52019071
21432
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
51997640
52019071
21432
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB355
qPCR, FISH
Maternal
Simplex
MIRLET7F2,MIR98,HUWE1
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
IQSEC2
de_wolf_14_ASD/ID_discovery_cases-case1
qPCR
Maternal
Simplex
FGD1
de_wolf_14_ASD/ID_discovery_cases-case1
qPCR
Maternal
Simplex
RNA5SP505,PHF8,FAM120C
digregorio_17_DD/ID_discovery_cases-DECIPHER_300767
Maternal
engchuan_15_ASD_discovery_cases-case18087_302
Unknown
SPANXN5,XAGE5,EIF4A2P4,XAGE3,SSX2B,FAM156B,GPR173,FAM156A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263219
Maternal
Maternal
Multi-generational
Possibly segregated
HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,SMC1A,RIBC1,HUWE1
iourov_12_ASD/ID/EP_discovery_cases-case49
Unknown
Unknown
Unknown
HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
iourov_12_ASD/ID/EP_discovery_cases-case50
Unknown
Unknown
Unknown
HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001783
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002039
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6857,HSD17B10,VTRNA3-1P,SMC1A,RIBC1,HUWE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004916
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR98,MIRLET7F2,HUWE1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005003
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PYY3,RNU6-935P,H3F3AP5,BMP15,HMGB1P15,NUDT10,CXorf67,LINC01496,CENPVL3,CENPVL2,CENPVL1,GSPT2,RNU6-504P,IPO7P1,TPMTP3,SNORA11E,MAGED4,SNORA11D,MIR8088,XAGE2,RBM22P6,XAGE1A,RBM22P7,XAGE1B,SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,NUDT11,MAGED1,MAGED4B,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,CLCN5,AKAP4,DGKK,SHROOM4,LINC01284,FAM156A,TSPYL2,KDM5C,HUWE1,PHF8,CCNB3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005096
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,SMC1A,RIBC1,HUWE1,PHF8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005305
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR6857,SMC1A
krumm_15_ASD_discovery_cases-case11129.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
BMP15
krumm_15_ASD_discovery_cases-case12378.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PYY3,AKAP4
lee_17_ASD/DD/ID/MCA_discovery_cases-case29
Unknown
MIR6894,KDM5C
lee_17_ASD/DD/ID/MCA_discovery_cases-case37
Unknown
MIR6857,HSD17B10,SMC1A,RIBC1
lee_17_ASD/DD/ID/MCA_discovery_cases-case38
Unknown
MIR6857,HSD17B10,SMC1A,RIBC1
li_24_ASD/ADHD/DD/ID_discovery_cases-case54
Maternal
MIRLET7F2,MIR98,HUWE1
lopergolo_21_ASD/DD/ID/EP_discovery_cases-case17
De novo
IQSEC2
lopergolo_21_ASD/DD/ID/EP_discovery_cases-case18
De novo
ACTG1P10,FAM156A,GPR173,TSPYL2,RPSAP62,KDM5C-IT1,MPV17L2P1,KANTR,MIR6895,MIR6894,KDM5C,IQSEC2
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p19
Maternal
Maternal
Multiplex
Segregated
IQSEC2
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p20
Maternal
Maternal
Multiplex
Segregated
IQSEC2
lopergolo_21_ASD/DD/ID/EP_discovery_cases-caseFam3-p21
Maternal
Multiplex
Segregated
IQSEC2
maini_18_ASD/DD/ID_discovery_cases-case127
Paternal
Not simplex
Unknown
RNU6-935P,H3F3AP5,BMP15,HMGB1P15,SHROOM4,LINC01284
moey_15_ASD/DD/ID/EP_discovery_cases-patient1
Maternal
Possibly simplex
Unknown (possible X-linked segregation)
ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
moey_15_ASD/DD/ID/EP_discovery_cases-patient2
FISH
Maternal
Extended multiplex
Incomplete X-linked segregation
ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,FAM156B,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
moey_15_ASD/DD/ID/EP_discovery_cases-patient3
Maternal
Possibly simplex
Unknown (possible X-linked segregation)
SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,FAM156A,TSPYL2,KDM5C
Mildly increased KDM5C expression in patient-dervied LCLs compared to male control
moey_15_ASD/DD/ID/EP_discovery_cases-patient4
De novo
Unknown
Possibly segregated
SSXP4,SSX7,RNA5SP504,SSX2,SPANXN5,XAGE5,EIF4A2P4,XAGE3,ACTG1P10,MIR6895,MIR6894,KDM5C-IT1,RPSAP62,MIR6857,HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,SSXP1,SSX8P,SSXP5,SSX2B,FAM156B,GPR173,KANTR,IQSEC2,SMC1A,RIBC1,FAM156A,TSPYL2,KDM5C,HUWE1
Increased expression of TSPYL2, KDM5C, and SMC1A in patient-derived LCLs compared to male control
monteiro_19_ASD_discovery_cases_case20
Unknown
HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,RNA5SP505,RPL7AP71,RNU6-434P,TSR2,FGD1,GNL3L,HUWE1,PHF8,FAM120C,WNK3
nord_11_ASD_discovery_cases-214-1
Maternal
0 genes
oikonomakis_16_ASD_discovery_cases-case562
De novo
HSD17B10,SMC1A,RIBC1
panigrahi_24_ASD/DD/ID_discovery_cases-case10
Unknown
MRPS18CP7,RNA5SP505,MRPL32P2,HUWE1,PHF8
pfundt_16_NDD_discovery_cases-case47
MLPA or MAQ
HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
pfundt_16_nonNDD_discovery_cases-case51
MLPA or MAQ
HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
pfundt_16_nonNDD_discovery_cases-case62
HSD17B10,VTRNA3-1P,MIR98,MIRLET7F2,HUWE1
pinto_14_ASD_discovery_cases2-case17018_1
qPCR
Maternal (X-linked in a male)
Simplex
(no siblings)
MIR98,MIRLET7F2,HUWE1
prasad_12_ASD_discovery_cases-case111521L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case46736
Unknown
Unknown
Unknown
XAGE5
qiao_08_ASD_discovery_cases-subject1
qPCR; FISH
Maternal
Multiplex
Partially segregated (deletion segregated with disease in males; two unaffected sisters carry same Xp11.22 deletion)
RPL7AP71,RNU6-434P,TSR2,FGD1,PHF8,FAM120C,WNK3
qiao_08_ASD_discovery_cases-subject2
Maternal
Multiplex
Partially segregated (deletion segregated with disease in males; two unaffected sisters carry same Xp11.22 deletion)
RPL7AP71,RNU6-434P,TSR2,FGD1,PHF8,FAM120C,WNK3
qiao_09_ASD_discovery_cases-case8
FISH; qPCR
Maternal
Multiplex
Possibly segregated
PHF8,FAM120C,WNK3
qiao_09_ASD_discovery_cases-case9
FISH; qPCR
Maternal
Multiplex
Possibly segregated
PHF8,FAM120C,WNK3
sanders_11_ASD_discovery_cases-11129.p1
Both parents
Simplex (trio)
NA
BMP15,HMGB1P15
sanders_11_ASD_discovery_cases-11409.p1
Unknown
Simplex (trio)
NA
SSXP4,SSX7,RNA5SP504,SSXP1,SSX8P,SSXP5
sanders_11_ASD_discovery_cases-12744.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13083.p1
Maternal
Simplex (quad-proband matched)
Segregated
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN78-3
Posteriori visualization in IGV, CMA (CytoSure Medical Research Exome Array)
Maternal
Multiplex
PHF8
schrauwen_24_ASD/ADHD/DD/ID_discovery_cases-caseFIN78-4
Maternal
Multiplex
PHF8
tran_mau-them_13_ID_discovery_cases-patient1
qPCR, FISH
De novo
Simplex
Likely segregated
IQSEC2
tran_mau-them_13_ID_discovery_cases-patient3
aCGH (Agilent SurePrint G3 1M)
De novo
Possibly simplex
Likely segregated
IQSEC2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1693-003
RT-qPCR or WGS
De novo
MIR6857,SMC1A
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
Unknown
SPANXN5,XAGE5,EIF4A2P4
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
Unknown
SNORA11E,MAGED4B
sanders_11_ASD_discovery_controls-11537.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Paternal
Simplex (quad)
NA
WNK3
sanders_11_ASD_discovery_controls-12536.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12817.s1
Paternal
Simplex (quad)
NA
FAM156A
sanders_11_ASD_discovery_controls-13012.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13083.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available