7q36.1-q36.3CNV Type: Deletion
Largest CNV size: 7121573 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
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
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
6472481
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
7121573
1
0
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
6251110
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
6251111
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
9500000
1
2
3
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
10989976
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
7294999
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
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
hu_22_ASD_discovery_cases-case14
NA
M
ASD
Case met criteria for ASD using DSM-5.
150944959
157417439
6472481
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
152332476
159296617
6964142
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0350
5 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
152454659
158705768
6251110
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0350
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
152454658
158705768
6251111
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case47
29 yrs.
F
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Dysmorphic features: no reported dysmorphic features. Growth parameters: microcephaly, short stature. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Moderate intellectual disability
152564382
159117047
6552666
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case95
22 yrs.
M
Developmental delay and intellectual disability
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: motor delay, language delay. Language and communication evaluation: no language disorder or absent speech. Musculoskeletal evaluation: sloping shoulders, medial deviation of finger. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: N/A. Additional medical history: kidney malformations, gastroenteric malformations, genital malformations, cererbal malformations, neurological anomalies, ocular anomalies. Dysmorphic features: low-set and large ears. Growth parameters: macrocephaly, somatic overgrowth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Mild intellectual disability
152564382
159117047
6552666
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown201
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely pathogenic (VOUS-LP)
149911584
159295947
9384364
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case60
NA
F
Developmental delay and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
148342799
159332774
10989976
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0383-003
N/A
M
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Karyotype: 46, XY, del(7)(q36)
152146916
159335973
7189058
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
hu_22_ASD_discovery_cases-case14
Unknown
CDK5,EN2,DPP6,PRKAG2,NUB1,CHPF2,KMT2C,ACTR3B,LMBR1,NOM1,GALNT11,LINC00244,TMUB1,AGAP3,RNF32,ASB10,CRYGN,RBM33,GALNTL5,CCT8L1P,FABP5P3,PAXIP1-DT,MNX1,GBX1,HTR5A,INSIG1,ATG9B,BLACE,CNPY1,WDR86,IQCA1L,MNX1-AS1,ATP5PBP3,MIR671,RPS27AP12,HTR5A-AS1,YBX1P4,LINC01003,NOS3,KCNH2,PAXIP1-AS2,WDR86-AS1,SEPTIN7P6,PRKAG2-AS1,MIR3907,RNF32-AS1,RHEB,LINC01287,INSIG1-DT,MNX1-AS2,RN7SL76P,RN7SKP280,SHH,SMARCD3,ETF1P2,SLC4A2,RNU6-604P,RNU4-31P,PAXBP1P1,RN7SL845P,XRCC2,ABCF2,UBE3C,DNAJB6,ASIC3,FASTK,ABCB8,PAXIP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001978
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
kushima_18_ASD_discovery_cases-caseASD0350
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,DPP6,PTPRN2
kushima_22_ASD_discovery_cases-caseASD0350
qRT-PCR
Unknown
EN2,DPP6,NCAPG2,ACTR3B,LMBR1,NOM1,LINC00244,RNF32,RBM33,PAXIP1-DT,MNX1,HTR5A,INSIG1,BLACE,CNPY1,THAP5P1,MIR153-2,MNX1-AS1,ATP5PBP3,MIR595,RPS27AP12,HTR5A-AS1,LINC01003,PAXIP1-AS2,PTPRN2-AS1,MIR5707,RNF32-AS1,PTPRN2,LINC01287,INSIG1-DT,LINC01022,MNX1-AS2,RN7SKP280,SHH,RNU4-31P,PAXBP1P1,RN7SL845P,XRCC2,UBE3C,DNAJB6,PAXIP1
maini_18_ASD/DD/ID_discovery_cases-case47
De novo
Not simplex
Likely not segregated
RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
maini_18_ASD/DD/ID_discovery_cases-case95
De novo
Not simplex
Likely not segregated
RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
maini_18_ASD/DD/ID_discovery_cases-case_unknown201
De novo
Unknown
Unknown
ZBED6CL,STRADBP1,ALDH7A1P3,GIMAP6,GIMAP2,GIMAP1,GIMAP3P,BET1P1,TMEM176A,ATG9B,ASIC3,CDK5,TMUB1,ASB10,CHPF2,MIR671,WDR86-AS1,MIR3907,RN7SL76P,PRKAG2-AS1,RNU6-604P,YBX1P4,SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,ACTR3C,LRRC61,REPIN1,ZNF775,LINC00996,GIMAP7,GIMAP4,TMEM176B,AOC1,KCNH2,ABCB8,SLC4A2,FASTK,GBX1,IQCA1L,ABCF2,NUB1,CRYGN,ETF1P2,GALNTL5,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,RARRES2,GIMAP8,GIMAP1-GIMAP5,GIMAP5,AGAP3,SMARCD3,WDR86,RHEB,PRKAG2,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,GALNT11,DPP6,PTPRN2,NOS3
streata_22_ASD/DD/ID_discovery_cases-case60
Unknown
AOC1,ALDH7A1P3,CDK5,EN2,EZH2,DPP6,ZNF777,PRKAG2,TMEM176B,REPIN1,NUB1,CHPF2,GIMAP5,DYNC2I1,GIMAP4,TMEM176A,NCAPG2,KMT2C,ESYT2,ACTR3B,ZNF398,LMBR1,NOM1,GALNT11,LRRC61,LINC00244,TMUB1,ZNF767P,KRBA1,AGAP3,COX6B1P1,RNF32,ASB10,ZNF786,CRYGN,RBM33,ATP6V0E2,GALNTL5,CCT8L1P,GIMAP8,C7orf33,FABP5P3,LINC00689,GIMAP7,ZNF746,GIMAP1,ZNF467,PAXIP1-DT,ZNF425,MNX1,GBX1,HTR5A,INSIG1,ATG9B,BLACE,CNPY1,LINC00996,THAP5P1,ZNF775,WDR86,IQCA1L,STRADBP1,ATP6V0E2-AS1,RPL32P17,MIR153-2,GIMAP3P,GIMAP6,MNX1-AS1,ZNF862,ATP5PBP3,MIR595,ACTR3C,MIR671,RPS27AP12,HTR5A-AS1,YBX1P4,PIP5K1P2,BET1P1,LINC01003,NOS3,KCNH2,RNU7-20P,PAXIP1-AS2,WDR86-AS1,SEPTIN7P6,ZNF783,PRKAG2-AS1,MIR3907,GIMAP1-GIMAP5,PTPRN2-AS1,MIR5707,RNF32-AS1,RHEB,PTPRN2,RNY1,RARRES2,RNY3,RNY4,GHET1,LINC01287,INSIG1-DT,LINC01022,ZNF775-AS1,REPIN1-AS1,MNX1-AS2,RN7SL76P,RN7SKP280,SHH,SMARCD3,ETF1P2,SLC4A2,VIPR2,RNU6-604P,RN7SL521P,RNU6-650P,RN7SL569P,RNU4-31P,RN7SL72P,PAXBP1P1,RN7SL845P,ZNF212,XRCC2,ZNF282,CUL1,ABCF2,UBE3C,PDIA4,DNAJB6,ASIC3,NPM1P12,FASTK,ABCB8,SSPOP,PAXIP1,GIMAP2,CNTNAP2
yuen_17_ASD_discovery_cases-case1-0383-003
Not available
De novo
Simplex
Segregated
SEPT7P6,CCT8L1P,LINC01003,RNA5SP250,ATP5PBP3,RN7SL845P,PAXBP1P1,PAXIP1-AS1,HTR5A-AS1,RN7SKP280,BLACE,EN2,LINC00244,RNU4-31P,MNX1-AS2,MNX1-AS1,RPS27AP12,MIR153-2,MIR595,LINC01022,MIR5707,THAP5P1,PIP5K1P2,XRCC2,LINC01287,PAXIP1-AS2,PAXIP1,HTR5A,INSIG1,CNPY1,SHH,RNF32,NOM1,MNX1,DNAJB6,NCAPG2,ESYT2,LINC00689,KMT2C,FABP5P3,ACTR3B,RBM33,LINC01006,LMBR1,UBE3C,WDR60,VIPR2,DPP6,PTPRN2
Controls
No Control Data Available
No Animal Model Data Available