10q24.31CNV Type: Deletion
Largest CNV size: 804630 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A 10q24.31 deletion involving the PAX2 gene was identified in a patient with focal segmental glomerulosclerosis type 7 from a mixed cohort of cases presenting with neurodevelopmental disorders or non-neurodevelopmental disorders (Pfundt et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
804630
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
pfundt_16_nonNDD_discovery_cases-case64
N/A
N/A
Non-NDD
Disease cohort: renal disoder. Description: PAX2 deletion causing focal segmental glomerulosclerosis type 7.
100260965
101065595
804631
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
pfundt_16_nonNDD_discovery_cases-case64
Array SNP (Affymetrix CytoScan HD)
NDUFB8,MIR608,KAZALD1,CWF19L1,BLOC1S2,PKD2L1,SCD,WNT8B,SEC31B,MRPL43,SEMA4G,TWNK,LZTS2,PDZD7,SFXN3,OLMALINC,HIF1AN,PAX2,SLF2
Controls
No Control Data Available
No Animal Model Data Available