2p25.1-p24.2CNV Type: Deletion
Largest CNV size: 9300000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletion identified in a patient with developmental delay (Talkowski et al., 2012).
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
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
6500000
0
1
1
talkowski_12_DD_discovery_cases
Subjects from Signature Genomics, LabCorp, DECIPHER, or ISCA with CNVs overlapping LINC00299, a single CNV<10 Mb, and no other pathogenic CNVs.
4
Developmental delay (DD)
NA
NA
9300000
1
0
1
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
ceylan_18_DD/ID_discovery_cases-case4
2.5 yrs.
N/A
Developmental delay
Developmental milestones: developmental delay. Dysmorphic features: prominent forehead, retrognathia, broad eyelashes, cupped ear, uplifted lobe. Other findings: dysplastic aortic valve, hydrocephalus, cerebral atrophy.
10126435
16645232
6518798
GRCh38
Duplication
No
talkowski_12_DD_discovery_cases-caseS2
NA
NA
Developmental delay
Developmental delay
Developmental delay
7414673
16662997
9248325
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
ceylan_18_DD/ID_discovery_cases-case4
De novo
MIR4261,RN7SL66P,ODC1,SNORA80B,RN7SL832P,RNU7-138P,RNU7-176P,KCNF1,RNU6-1081P,PPIAP60,LINC00570,RNA5SP84,MIR4429,RNU2-13P,RNA5SP85,RN7SL674P,MIR548S,MIR4262,MIR3681,RNU6-843P,MIR3125,RNU6-1288P,RNU5E-7P,RN7SL104P,RRM2,C2orf48,PDIA6,FLJ33534,PQLC3,E2F6,TRIB2,FAM84A,MYCNUT,MYCNOS,MYCN,GACAT3,HPCAL1,NOL10,ATP6V1C2,LINC01954,C2orf50,ROCK2,NTSR2,LPIN1,MIR3681HG,LINC00276,NBAS,DDX1,FAM49A,GREB1,LINC01804
talkowski_12_DD_discovery_cases-caseS2
Unknown
Unknown
Unknown
RNU6ATAC37P,LINC01871,SNRPEP5,HMGB1P25,RPL30P3,EIF1P7,RNU4-73P,MIR4261,RN7SL66P,ODC1,SNORA80B,RN7SL832P,RNU7-138P,RNU7-176P,KCNF1,RNU6-1081P,PPIAP60,LINC00570,RNA5SP84,MIR4429,RNU2-13P,RNA5SP85,RN7SL674P,MIR548S,MIR4262,MIR3681,RNU6-843P,MIR3125,RNU6-1288P,RNU5E-7P,RN7SL104P,ID2-AS1,ID2,ITGB1BP1,IAH1,ADAM17,YWHAQ,TAF1B,KLF11,CYS1,RRM2,C2orf48,PDIA6,FLJ33534,PQLC3,E2F6,TRIB2,FAM84A,MYCNUT,MYCNOS,MYCN,GACAT3,LINC00298,LINC00299,LINC01814,KIDINS220,MBOAT2,ASAP2,GRHL1,HPCAL1,NOL10,ATP6V1C2,LINC01954,C2orf50,ROCK2,NTSR2,LPIN1,MIR3681HG,LINC00276,NBAS,DDX1,FAM49A,CPSF3,GREB1,LINC01804
Controls
No Control Data Available
No Animal Model Data Available