7q36.2-q36.3CNV Type: Deletion
Largest CNV size: 6570019 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Deletions within this region were identified in five cases from two recent CNV reports (Kaminsky et al., 2011; Iourov et al., 2012).
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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
392680
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
5493191
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
6570019
4
0
4
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
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
782290
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
24247
5
0
5
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
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
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
SnipPeep and XHMM plot visualizations
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
cucinotta_23_ASD_discovery_cases-case243
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
154831511
155224190
392680
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case27
4 yrs. 5 mos.
M
Multiple congenital anomalies (MCA)
Lumbrosacral dysgenesis, microcephaly, hypospadias, congenital ventricular septal defect, pectus excavatum, myelocele, small lower jaw, upslanting palpebral fissures, teeth anomalies, autistic features. Karyotype: 1qh.
Mild cognitive delay
153071545
158469129
5397585
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000859
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155007022
159135526
4128505
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002088
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152920128
159332714
6412587
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002705
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152918472
159307523
6389052
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005167
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153833092
159282531
5449440
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
leblond_19_ASD_discovery_controls-siblingPN400170
N/A
M
Control
Unaffected sibling of an ASD case
154727764
155509072
781309
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11029.s1
7.8
M
Control (matched sibling)
NA
NA
155266287
155288839
22553
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11410.s1
11.3
F
Control (matched sibling)
NA
NA
155264592
155288839
24248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11488.s1
7.7
M
Control (matched sibling)
NA
NA
155264592
155288839
24248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12078.s1
5.8
F
Control (matched sibling)
NA
NA
155264592
155288839
24248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13042.s1
4.2
F
Control (matched sibling)
NA
NA
155264592
155288839
24248
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case243
Paternal
DPP6,PAXIP1-DT,HTR5A,HTR5A-AS1,PAXIP1-AS2,RN7SKP280,PAXIP1
iourov_12_ASD/ID/EP_discovery_cases-case27
FISH
Unknown
Unknown
Unknown
PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,RBM33,LINC01006,LMBR1,UBE3C,DPP6,PTPRN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000859
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,PTPRN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002088
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002705
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005167
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leblond_19_ASD_discovery_controls-siblingPN400170
SnipPeep and XHMM plot visualizations
De novo
PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,DPP6
sanders_11_ASD_discovery_controls-11029.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11410.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11488.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12078.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13042.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available