1p36.31-p36.22CNV Type: Deletion
Largest CNV size: 5181312 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion within this region was found in a case 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
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
5181312
1
0
1
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
5950000
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
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
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5682528
10863843
5181316
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530436
M
Intellectual disability
Intellectual disability (HP:0001249).
6353510
12303509
5950000
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005424
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,ACOT7,CAMTA1,PEX14,RERE
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530436
Unknown
RERE,CA6,CLCN6,TNFRSF8,DFFA,ENO1,CORT,FBXO6,RNU5E-1,UBIAD1,SLC45A1,CASZ1,HES2,VPS13D,ERRFI1,DNAJC11,CTNNBIP1,PLEKHG5,AGTRAP,DISP3,NOL9,MIIP,NMNAT1,GPR157,LZIC,SPSB1,TAS1R1,SLC25A33,ESPN,FBXO44,KIAA2013,THAP3,RBP7,C1orf127,PHF13,SLC2A7,TMEM201,MTOR,TNFRSF9,ZBTB48,C1orf167,DRAXIN,CENPS,CFL1P6,RPL10P17,SBF1P2,MIR34A,RPL7P7,PIK3CD-AS1,HMGN2P17,NPPB,MTHFR,NPPA,RPL23AP19,RPL39P6,RPL7P11,UBE2V2P3,PGAM1P11,MIR4252,ENO1-AS1,LINC02606,LINC01672,CENPS-CORT,MIR5697,MIR4632,RNA5SP40,MTOR-AS1,RNU5E-4P,CAMTA1-IT1,PGD,PEX14,PLOD1,PIK3CD,EXOSC10,CAMTA1-AS1,LINC01647,PIK3CD-AS2,MIR6729,MIR7846,MIR6728,CAMTA1-AS2,C1orf167-AS1,LINC01714,RERE-AS1,LNCTAM34A,EXOSC10-AS1,RNU6-37P,SRM,SLC2A5,TNFRSF1B,RNU6-991P,RN7SL451P,RNU6-828P,HSPE1P24,MZT1P1,RNU6-537P,RPL23AP89,RNU6-291P,RNU6-304P,RN7SL614P,RN7SKP269,RNU6-731P,RN7SL649P,RNU6-777P,MIR34AHG,RNU1-7P,RNU1-8P,RN7SL731P,MTCYBP45,CAMTA1-DT,PER3,TNFRSF25,TMEM274P,ANGPTL7,VAMP3,KLHL21,MFN2,H6PD,MASP2,UTS2,UBE4B,PARK7,ACOT7,MAD2L2,CLSTN1,TARDBP,CAMTA1,FBXO2,KIF1B
Controls
No Control Data Available
No Animal Model Data Available