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Relevance to Autism

Rare mutations in the PLCD1 gene have been identified with autism (O'Roak et al., 2011).

Molecular Function

Mediates production of second messenger molecules DAG and IP3. Essential for trophoblast and placental development

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
The pleckstrin homology domain of phospholipase C-delta 1 binds with high affinity to phosphatidylinositol 4,5-bisphosphate in bilayer membranes.
Highly Cited
Activation of the beta 1 isozyme of phospholipase C by alpha subunits of the Gq class of G proteins.
Highly Cited
Phosphoinositide-specific phospholipase C-delta 1 binds with high affinity to phospholipid vesicles containing phosphatidylinositol 4,5-bisphosphate.
Recent Recommendation
The small GTPase Ral couples the angiotensin II type 1 receptor to the activation of phospholipase C-delta 1.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Recent Recommendation
Genetic defect in phospholipase C1 protects mice from obesity by regulating thermogenesis and adipogenesis.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN197R001 
 synonymous_variant 
 c.270C>A 
 p.Ile90%3D 
 De novo 
 NA 
 Simplex 
 GEN197R002 
 missense_variant 
 c.1442C>T 
 p.Ser481Leu 
 Familial 
  
 Extended multiplex (at least one pair of ASD affec 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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