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18q21.33-q23CNV Type: Deletion-Duplication


Largest CNV size: 17250951 bp

Statistics Box:
Number of Reports: 5


Summary Information

CNVs within this region were identified in two 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

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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
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
NA
Deletion
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ceylan_18_DD/ID_discovery_cases
  NA NA
 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
 18200000
 1
 0
 1
 han_22_ASD/DD/ID_discovery_cases
  NA NA
 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
 17288827
 1
 0
 1
 hnoonual_17_ASD_discovery_cases
 Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
 114
 68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
 Range, 1-18 years (at time of recruitment)
 79.82% Male
 18900000
 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
 17250951
 1
 1
 2
 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
 17300000
 1
 0
 1

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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 None
 han_22_ASD/DD/ID_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix SNP 6.0, Affymetrix CytoScan HD
 
 
 
 hnoonual_17_ASD_discovery_cases
  Thai
 Solid phase hybridization
  Illumina Infinium CytoSNP-850K v1.1 BeadChip
 
 BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
 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
 munnich_19_ASD_discovery_cases
  France
 aCGH, karyotyping
  Agilent 60K
 
 
 FISH

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
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ceylan_18_DD/ID_discovery_cases-case16
  NA NA
 10 yrs.
 N/A
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay. Dysmorphic features: frontal bossing, deep set eyes, depressed nasal bridge. Other findings: sensorineural deafness, strabismus.
 Intellectual disability
 62053750
 80256240
  18202491
 GRCh38
 Deletion
 No
  han_22_ASD/DD/ID_discovery_cases-case19D0185
  NA NA
 1 mos. 22 days
 F
 Developmental delay
 Bilateral hearing problem, valgus feet, cleft palate
 
 62967414
 80256240
  17288827
 GRCh38
 Deletion
 No
  hnoonual_17_ASD_discovery_cases-caseTU17
 N/A
 F
 ASD and intellectual disability
 Microcephaly, cleft lip and palate, absent philtrum, abnormal ear canal, hypertelorism, flat nasal root, prominent nose
 Intellectual disability
 61363433
 80257297
  18893865
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 63195579
 80234429
  17038851
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003796
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 62999696
 80209986
  17210291
 GRCh38
 Deletion
 Yes
  munnich_19_ASD_discovery_cases-case14
 N/A
 M
 ASD
 Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
 
 62943321
 80187442
  17244122
 GRCh38
 Deletion
 Yes

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 ceylan_18_DD/ID_discovery_cases-case16
 
 
 De novo
 
 
 RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,PHLPP1,HMSD,LINC00908,CTDP1
 
 han_22_ASD/DD/ID_discovery_cases-case19D0185
 
 
 Unknown
 
 
 CDH7,BCL2,CYB5A,SALL3,CDH19,TIMM21,TMX3,CNDP2,ZNF407,RBFA,CCDC102B,SLC66A2,NETO1,CNDP1,DSEL,SERPINB12,PARD6G,SERPINB11,DIPK1C,CBLN2,FAUP1,DOK6,GTSCR1,FBXO15,LINC00305,GALR1,KDSR,LINC01924,ZADH2,HMSD,SMIM21,RPS2P6,ATP9B,LINC01879,LINC02864,LINC00683,ZNF407-AS1,ARL2BPP1,LINC01538,ZNF516-DT,HSBP1L1,RPL31P9,DSEL-AS1,AKR1B10P2,C18orf63,LINC01896,BDP1P,RPL26P35,HNRNPA1P11,PARD6G-AS1,MBP,MTL3P,NFATC1,SERPINB2,ZNF236-DT,FAM32DP,RPL12P39,LINC01541,SLC25A6P4,LINC01898,NETO1-DT,RBFADN,SDHCP1,ATP5MC1P6,LINC02582,PRPF19P1,MIR5011,MIR548AV,RNU6-39P,RNA5SP461,RNA5SP460,LINC01029,LINC01910,ZNF516-AS1,LINC01927,LINC01922,LINC01909,LINC01903,SERPINB8,SERPINB13,SERPINB10,SERPINB5,LINC01899,LIVAR,LINC01893,LINC01912,SERPINB4,SERPINB3,RN7SL795P,CCND3P2,RN7SL551P,RNU6-655P,RN7SL401P,RNU6-1037P,LARP7P3,RNU6-346P,LINC01916,SERPINB7,ZNF236,KDSR-DT,TSHZ1,VPS4B,ZNF516,CTDP1,SOCS6,CD226,TXNL4A,ADNP2,RTTN,PHLPP1,KCNG2
 
 hnoonual_17_ASD_discovery_cases-caseTU17
 
 
 Unknown
 
 
 RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,RNF152,PHLPP1,HMSD,LINC00908,CTDP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001750
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,HMSD,LINC00908,CTDP1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003796
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,HMSD,LINC00908,CTDP1
 
 munnich_19_ASD_discovery_cases-case14
 FISH
 
 Unknown
 
 
 ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,LINC01893,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,PHLPP1,HMSD,DIPK1C,LINC00683,CTDP1
 

Controls

No Control Data Available
No Animal Model Data Available
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