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11q12.3-q13.1CNV Type: Deletion


Largest CNV size: 377002 bp

Statistics Box:
Number of Reports: 1



Summary Information

A 11q12.3-q13.1 deletion involving the ATL3 gene was identified in a proband with an unspecified movement disorder from a mixed cohort of cases presenting with neurodevelopmental disorders or non-neurodevelopmental disorders (Pfundt et al., 2016).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

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
 377002
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)

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-case142
 N/A
 N/A
 Non-NDD
 Disease cohort: movement disorder. Description: ATL3 deletion
 
 63375644
 63752646
  377003
 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-case142
 Array SNP (Affymetrix CytoScan HD)
 
 
 
 
 LGALS12,IMMP1LP1,SLC22A9,HRASLS5,RARRES3,HRASLS2,PLA2G16,ATL3,RTN3
 

Controls

No Control Data Available
No Animal Model Data Available
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