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Relevance to Autism

A likely damaging missense variant in the ITPR1 gene was identified in an ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort (Wang et al., 2016). Two additional possibly damaging de novo missense variants in ITPR1 had previously been identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014) and the Simons Simplex Collection (Iossifov et al., 2014).

Molecular Function

This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Microcephaly, hypotonia
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Ataxia, atrophy of lower extremities, vermis atrop
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN880R001 
 missense_variant 
 c.1409G>C 
 p.Arg470Thr 
 De novo 
 NA 
  
 GEN880R002 
 missense_variant 
 c.1127G>A 
 p.Arg376Lys 
 De novo 
 NA 
 Simplex 
 GEN880R003 
 missense_variant 
 c.7516G>A 
 p.Gly2506Arg 
 De novo 
 NA 
  
 GEN880R004 
 missense_variant 
 c.805C>T 
 p.Arg269Trp 
 De novo 
 NA 
  
 GEN880R005 
 missense_variant 
 c.799A>G 
 p.Thr267Ala 
 De novo 
 NA 
  
 GEN880R006 
 missense_variant 
 c.4900G>A 
 p.Glu1634Lys 
 De novo 
 NA 
  
 GEN880R007 
 stop_gained 
 c.2094G>A 
 p.Trp698Ter 
 Familial 
 Paternal 
 Multi-generational 
 GEN880R008 
 missense_variant 
 c.7739G>A 
 p.Gly2580Glu 
 De novo 
 NA 
  
 GEN880R009 
 missense_variant 
 c.784G>A 
 p.Val262Ile 
 Familial 
 Paternal 
  
 GEN880R010 
 missense_variant 
 c.1594G>A 
 p.Ala532Thr 
 Familial 
 Paternal 
 Simplex 
 GEN880R011 
 missense_variant 
 c.5657C>A 
 p.Ala1886Asp 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 19
 
3
Deletion-Duplication
 17
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 2
 
3
Deletion
 4
 
3
Duplication
 11
 
3
Duplication
 1
 

No Animal Model Data Available

 

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