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Relevance to Autism

A rare mutation in the TUBGCP5 gene has been identified in an individual with ASD (Sanders et al., 2012). In addition, a rare TUBGCP5 deletion was found in a patient with PDD-NOS and mild intellectual disability (Leblond et al., 2012).

Molecular Function

The Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
ASD
ID
Support
Neurogenetic analysis of childhood disintegrative disorder.
Childhood disintegrative disorder
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN321R001 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN321R002 
 missense_variant 
 c.3044T>C 
 p.Leu1015Ser 
 De novo 
 NA 
 Simplex 
 GEN321R003 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Multi-generational 
 GEN321R004 
 missense_variant 
 c.820A>T 
 p.Thr274Ser 
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 

No Animal Model Data Available

 

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