18p11.32-p11.31CNV Type: Deletion-Duplication
Largest CNV size: 6975789 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
CNVs within this region were identified in six cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
4241557
1
0
1
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
6800000
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
4273325
1
0
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
4300000
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
3170800
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
5986503
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
6975789
5
1
6
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
4460000
1
0
1
miclea_22_DD/ID_discovery_cases
Patients presented in Clinical Emergency Hospital for Children Cluj-Napoca betwwen January 2015 and July 2017.
189
Diagnosis of global developmental delay (DD) or intellectual disability (ID) based on intelligence quotient evaluated by WISC-IV and developmental quotient evaluated by NEPSY.
Range, 1-18 yrs.
51.85% Male
4377049
1
0
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
3300000
0
1
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
6822711
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
298875
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
2249701
1
0
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
298875
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
miclea_22_DD/ID_discovery_cases
Romania
Solid phase hybridization
Illumina Infinium OmniExpress-24 BeadChip
NA
Illumina GenomeStudio v.2.0.
None
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0223
N/A
N/A
Epilepsy
Holoprosencephaly, microcephaly, dysmorphic features, cleft lip and palate, spastic quadriplegia, central diabetes insipidus, and epilepsy. Non-consanguineous parents.
136226
4377782
4241557
GRCh38
Deletion
No
ceylan_18_DD/ID_discovery_cases-case15
13.5 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, broad nasal bridge. Other findings: obesity.
Intellectual disability
136226
6992328
6856103
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case151
N/A
M
Developmental delay
Short stature, facial dysmorphism, intrauterine growth retardation, and developmental delay
136226
4409550
4273325
GRCh38
Deletion
No
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
N/A
F
Developmental delay
Mild developmental delay, blepharophimosis, dysmorphic features. Family history: none reported.
Mild developmental delay
131700
4420873
4289174
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
N/A
M
ASD and intellectual disability
Neural tube defect
Intellectual disability (FSIQ 57, NVIQ 65, VIQ 55)
39601
3210401
3170801
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D3668
2 yrs. 1 mo.
M
Developmental delay
Facial dysmorphism
136226
6122728
5986503
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001591
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
180230
4199943
4019714
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001842
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53344
7029134
6975791
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002382
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131700
3279166
3147467
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003884
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
6731495
6582533
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004915
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148763
3345033
3196271
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005214
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2547398
6694867
4147470
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530615
M
MCA
Abnormal facial shape (HP:0001999)
1
4460000
4460000
GRCh38
Deletion
No
miclea_22_DD/ID_discovery_cases-case117
NA
NA
Developmental delay and intellectual disability
Global developmental delay, dysmorphic features
Intellectual disability
13033
4390081
4377049
GRCh38
Deletion
No
munnich_19_ASD_discovery_cases-case31
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
198111
3512488
3314378
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327131
49 yrs.
M
Intellectual disability and ASD
Psychiatric history: anxiety disorder, depression. Mini PAS-ADD evaluation: hypomania, psychosis, autistic spectrum disorder (ASD). BPI-S evaluation: at least weekly aggressive/destructive behavior and stereotyped behavior. Medical history: bilateral sensorineural hearing impairment, epilepsy, psychogenic polydipsia, hypogonadism, arthritis, osteoporesis, dysphagia. Dysmorphic features: facial asymmetry, abnormal facial shape, dental crowding, abnormality of the fingers, large ears, cranial abnormality. Growth parameters: height 157 cm, head circumference 56 cm. Ethnicity: white (British).
Mild intellectual disability
141491
6964202
6822712
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case528
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2850633
3149507
298875
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case529
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2850633
3149507
298875
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
poultney_13_ASD_discovery_controls-control04C29883A
N/A
F
Control
NIMH Control (NIMH ID 32604)
905385
3155088
2249704
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0223
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1,DLGAP1
ceylan_18_DD/ID_discovery_cases-case15
De novo
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MYOM1,DLGAP1,LINC00667,L3MBTL4
chaves_19_ASD/DD/ID_discovery_cases-case151
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,LPIN2,LINC01895,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1,DLGAP1
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1055
Nimblegen aCGH
Unknown
Simplex (negative family history)
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1,DLGAP1
guo_18_ASD/DD/ID_discovery_cases-caseBK-381-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYOM1
han_22_ASD/DD/ID_discovery_cases-case15D3668
De novo
ADCYAP1,CETN1,CLUL1,ENOSF1,LINC00470,METTL4,EMILIN2,COLEC12,L3MBTL4,MYL12B,DLGAP1-AS2,LINC00526,IGLJCOR18,DLGAP1-AS3,DLGAP1-AS5,LINC00667,LINC01904,AKAIN1,TYMSOS,TMEM200C,CBX3P2,MIR3976HG,GAPDHP66,DLGAP1-AS1,CHORDC1P4,COX6CP3,BOD1P1,BOD1P2,AIDAP3,RNU7-25P,RPL21P127,RPL31P59,SNRPCP4,KATNBL1P3,GAPLINC,SLC25A3P3,MIR3976,BOLA2P1,RNU5F-3P,DLGAP1-AS4,PPIAP14,MIR6718,MYL12-AS1,LINC01895,LINC01892,LINC01925,RN7SKP146,RN7SL39P,TYMS,TGIF1,RNU6-340P,RNU1-109P,RN7SKP72,RNU6-831P,ELOCP27,ZBTB14,MYOM1,YES1,THOC1-DT,DLGAP1,USP14,LPIN2,THOC1,NDC80,MYL12A,SMCHD1,EPB41L3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001591
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1,DLGAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001842
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MYOM1,DLGAP1,LINC00667,L3MBTL4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002382
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003884
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,MYOM1,DLGAP1,LINC00667,L3MBTL4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004915
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005214
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,MYOM1,DLGAP1,LINC00667,L3MBTL4
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530615
Unknown
ADCYAP1,CETN1,CLUL1,ENOSF1,LINC00470,METTL4,EMILIN2,COLEC12,MYL12B,DLGAP1-AS2,IGLJCOR18,DLGAP1-AS3,TUBB8B,DLGAP1-AS5,LINC01904,TYMSOS,CBX3P2,GAPDHP66,DLGAP1-AS1,ROCK1P1,CHORDC1P4,COX6CP3,BOD1P1,AIDAP3,IL9RP4,RNU7-25P,RPL21P127,RPL31P59,SNRPCP4,KATNBL1P3,GAPLINC,SLC25A3P3,BOLA2P1,DLGAP1-AS4,MIR6718,MIR8078,LINC02564,MYL12-AS1,LINC01895,LINC01925,RN7SKP146,RN7SL39P,TYMS,TGIF1,RNU6-340P,RNU1-109P,RN7SKP72,RNU6-831P,ELOCP27,MYOM1,YES1,THOC1-DT,DLGAP1,USP14,LPIN2,THOC1,NDC80,MYL12A,SMCHD1
miclea_22_DD/ID_discovery_cases-case117
Unknown
ADCYAP1,CETN1,CLUL1,ENOSF1,LINC00470,METTL4,EMILIN2,COLEC12,MYL12B,DLGAP1-AS2,IGLJCOR18,DLGAP1-AS3,TUBB8B,DLGAP1-AS5,LINC01904,TYMSOS,CBX3P2,GAPDHP66,DLGAP1-AS1,ROCK1P1,CHORDC1P4,COX6CP3,BOD1P1,AIDAP3,IL9RP4,RNU7-25P,RPL21P127,RPL31P59,SNRPCP4,KATNBL1P3,GAPLINC,SLC25A3P3,BOLA2P1,DLGAP1-AS4,MIR6718,MIR8078,LINC02564,MYL12-AS1,LINC01895,LINC01925,RN7SKP146,RN7SL39P,TYMS,TGIF1,RNU6-340P,RNU1-109P,RN7SKP72,RNU6-831P,MYOM1,YES1,THOC1-DT,DLGAP1,USP14,LPIN2,THOC1,NDC80,MYL12A,SMCHD1
munnich_19_ASD_discovery_cases-case31
FISH
De novo
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,LPIN2,LINC01895,TGIF1,GAPLINC,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,MYOM1,DLGAP1
wolfe_16_ID_discovery_cases-DECIPHER327131
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MYOM1,DLGAP1,LINC00667,L3MBTL4
yin_16_ASD_discovery_cases-case528
Unknown
Unknown
Unknown
SNRPCP4,RNU7-25P,LPIN2,EMILIN2,MYOM1
yin_16_ASD_discovery_cases-case529
Unknown
Unknown
Unknown
SNRPCP4,RNU7-25P,LPIN2,EMILIN2,MYOM1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_controls-control04C29883A
Unknown
ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,METTL4,NDC80,CBX3P2,LPIN2,LINC00470,SMCHD1,EMILIN2,MYOM1
No Animal Model Data Available