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Relevance to Autism

Rare mutations in the PDZD4 gene have been identified with autism (Piton et al., 2011).

Molecular Function

Expressed inthe brain

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Highly Cited
Identification and characterization of human PDZRN4L gene and mouse Pdzrn4l gene in silico.
Highly Cited
Identification of PDZK4, a novel human gene with PDZ domains, that is upregulated in synovial sarcomas.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN192R001 
 missense_variant 
 c.976G>A 
 p.Asp326Asn 
 Familial 
 Maternal 
  
 GEN192R002 
 missense_variant 
 c.1072C>T 
 p.Arg358Cys 
 Familial 
  
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

No Animal Model Data Available

No PIN Data Available
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