3p26.3-p26.1CNV Type: Deletion
Largest CNV size: 6100000 bp
Statistics Box:
Number of Reports: 6
Number of Reports: 6
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
4338188
1
0
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
5721445
0
1
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
8529774
4
0
4
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
5460000
2
0
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
6801000
0
1
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)
6100000
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
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
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
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
akkus_24_ASD/DD/ID_discovery_cases-case7B
2 yrs.
F
Developmental delay/intellectual disability and epilepsy
Developmental delay/intellectual disability, epilepsy.
Developmental delay/intellectual disability
20213
4358400
4338188
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000032
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S38
N/A
20396
5741832
5721437
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1984526
6852981
4868456
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001917
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
6977502
6913660
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002465
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
63843
8258109
8194267
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004381
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
52266
8582037
8529772
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530470
F
MCA
Abnormal facial shape (HP:0001999), orofacial cleft (HP:0000202)
1
5460000
5460000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530473
M
MCA
Orofacial cleft (HP:0000202)
1
5301502
5301502
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case9
18 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
52266
6852981
6800716
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case80
M
ASD + Epilepsy
Seizures, corpus callosum dysgenesis, sagittal artery thrombosis, ASD
77266
6257867
6180602
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akkus_24_ASD/DD/ID_discovery_cases-case7B
Unknown
CNTN6,CRBN,TRNT1,LRRN1,CNTN4,IL5RA,SUMF1,RPL23AP38,RPSAP32,RPL21P17,RPS8P6,PNPT1P1,RPL23AP39,CNTN4-AS2,CNTN4-AS1,CHL1-AS1,LINC01266,CHL1-AS2,HINT2P1,LINC01986,RN7SKP144,SETMAR,CRB3P1,DNAJC19P4,RN7SL120P,RNU6-1194P,CHL1
fitzgerald_14_ASD/DD/ID_discovery_cases-case000032
De novo
Unknown
Unknown
LINC01986,RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000836
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001917
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002465
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7,LMCD1-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004381
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,GRM7-AS2,RNU4ATAC17P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,GRM7-AS1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,LMCD1,TRNT1,CRBN,SUMF1,GRM7,LMCD1-AS1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530470
Unknown
CNTN6,CRBN,TRNT1,ARL8B,LRRN1,CNTN4,IL5RA,SUMF1,MRPS10P2,RPL23AP38,RPSAP32,UBTFL8,RPL21P17,EGOT,ITPR1,RPS8P6,PNPT1P1,RPL23AP39,RNF10P1,MIR4790,BHLHE40-AS1,CNTN4-AS2,CNTN4-AS1,ITPR1-DT,CHL1-AS1,LINC01266,CHL1-AS2,HINT2P1,LINC01986,RN7SKP144,SETMAR,CRB3P1,DNAJC19P4,RN7SL120P,RN7SL553P,RNU6-1194P,BHLHE40,EDEM1,CHL1
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530473
Unknown
CNTN6,CRBN,TRNT1,ARL8B,LRRN1,CNTN4,IL5RA,SUMF1,MRPS10P2,RPL23AP38,RPSAP32,UBTFL8,RPL21P17,EGOT,ITPR1,RPS8P6,PNPT1P1,RPL23AP39,RNF10P1,MIR4790,BHLHE40-AS1,CNTN4-AS2,CNTN4-AS1,ITPR1-DT,CHL1-AS1,LINC01266,CHL1-AS2,HINT2P1,LINC01986,RN7SKP144,SETMAR,CRB3P1,DNAJC19P4,RN7SL120P,RN7SL553P,RNU6-1194P,BHLHE40,EDEM1,CHL1
sansovic_17_DD/ID/ASD_discovery_cases-case9
Maternal
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,MRPS36P1,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,GRM7-AS3,TRNT1,CRBN,SUMF1,GRM7
tzetis_12_DD/ID_discovery_cases-case80
Unknown
Unknown
RNU6-1194P,RPS8P6,RPSAP32,RN7SL120P,CRB3P1,RPL23AP38,RPL23AP39,RPL21P17,RN7SKP144,HINT2P1,DNAJC19P4,PNPT1P1,MRPS10P2,ITPR1-DT,RNF10P1,UBTFL8,MIR4790,RN7SL553P,CHL1-AS2,CHL1-AS1,CNTN4-AS2,CNTN4-AS1,IL5RA,SETMAR,EGOT,BHLHE40-AS1,ARL8B,EDEM1,CHL1,LINC01266,CNTN6,CNTN4,LRRN1,ITPR1,BHLHE40,TRNT1,CRBN,SUMF1
Controls
No Control Data Available
No Animal Model Data Available