6q11.1-q14.1CNV Type: Deletion
Largest CNV size: 14616900 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A deletion within this region was identified in an ASD proband as part of a study to identify CNVs affecting genes involved in the mGluR network (Wenger et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
20188176
1
0
1
wenger_16_ASD_discovery_cases
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
62
ASD
N/A
N/A
14616900
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
wenger_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina HumanHap 550 or Illumina Human610-Quad v1.0
PennCNV
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engwerda_18_ASD/DD/ID_discovery_cases-caseId018
N/A
N/A
ASD, developmental delay, and intellectual disability
Case presents with developmental delay, ASD and at least two of the following connective tissue features: hyperlaxity, hernia of the abdominal wall, foot deformity and kyphosis/scoliosis.
Mild intellectual disability (IQ 50-70)
61468685
81449704
19981020
GRCh38
Deletion
No
wenger_16_ASD_discovery_cases-case16
N/A
N/A
ASD
Prior clinical diagnosis of genetic syndrome: n/a
61549300
76166387
14617088
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
engwerda_18_ASD/DD/ID_discovery_cases-caseId018
No validation reported
De novo
MTRNR2L9,DHFRP5,FKBP1C,SPTLC1P3,EEF1B2P5,RPL7AP34,RPL9P18,GCNT1P4,HNRNPDP2,SLC25A51P1,ADH5P4,NUFIP1P,RNU7-66P,RNA5SP208,RNU6-280P,NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,RNU6-261P,RNU6-84P,HMGN3-AS1,DBIP1,RPL35AP18,AK4P5,RPL17P25,RPSAP72,KHDRBS2-OT,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,RPS6P7,HMGN3,LCA5,LINC01621,ELOVL4,TTK,LGSN,PTP4A1,PHF3,LINC02549,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,HTR1B,MEI4,IRAK1BP1,PHIP,GAPDHP63,BCKDHB,KHDRBS2,EYS,ADGRB3,COL9A1,OGFRL1,RIMS1,DDX43,LINC02540,SH3BGRL2
wenger_16_ASD_discovery_cases-case16
Unknown
MTRNR2L9,DHFRP5,FKBP1C,SPTLC1P3,EEF1B2P5,RPL7AP34,RPL9P18,GCNT1P4,HNRNPDP2,SLC25A51P1,ADH5P4,NUFIP1P,RNU7-66P,RNA5SP208,RNU6-280P,NPM1P37,RPL37P15,RNU7-48P,NDUFAB1P1,BECN1P2,LYPLA1P3,RNU6-411P,MIR30C2,MIR30A,LINC01626,KRT19P1,RNU4-66P,MIR4282,KNOP1P4,PGAM1P10,RBPMS2P1,KHDC1P1,KHDC1L,RPSAP41,EIF3EP1,SDCBP2P1,PAICSP3,DPPA5,KHDC3L,RPL39P3,RPS6P8,RNU6-975P,RN7SL827P,EEF1A1,RPS27P15,TXNP7,COX7A2,HMGB1P39,MIR4463,UBE2V1P15,RNU1-34P,RPL26P20,RNU6-1338P,RNU6-1016P,RN7SKP163,RNU6-155P,RNA5SP209,RNU6-248P,KHDRBS2-OT,GAPDHP42,SDHAF4,SLC25A6P6,LINC00472,KCNQ5-IT1,OOEP,OOEP-AS1,CGAS,MTO1,SLC17A5,TMEM30A,LGSN,PTP4A1,PHF3,LINC02549,LMBRD1,COL19A1,FAM135A,SMAP1,B3GAT2,KCNQ5,KCNQ5-AS1,KHDC1,CD109,COL12A1,FILIP1,SENP6,MYO6,IMPG1,KHDRBS2,EYS,ADGRB3,COL9A1,OGFRL1,RIMS1,DDX43
Controls
No Control Data Available
No Animal Model Data Available