ITPR1
Homo sapiens
Gene Name: inositol 1,4,5-trisphosphate receptor type 1
Aliases: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
Chromosome No: 3
Chromosome Band: 3p26.1
Genetic Category: Rare single gene variant--Rare single gene variant/Functional
Aliases: ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29
Chromosome No: 3
Chromosome Band: 3p26.1
Genetic Category: Rare single gene variant--Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 23
Recent Reports: 1
Annotated variants: 36
Associated CNVs: 10
Evidence score: 3
ASD Reports: 23
Recent Reports: 1
Annotated variants: 36
Associated CNVs: 10
Evidence score: 3
| Associated Disorders: |
|
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
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
Genomic diagnosis for children with intellectual disability and/or developmental delay.
ID
Microcephaly, hypotonia
Support
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
ASD
Support
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study
Cerebral palsy
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Ataxia, atrophy of lower extremities, vermis atrop
Support
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study
DD, epilepsy/seizures
Support
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
DD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD
Support
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
ID
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children
DD
ASD
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Support
Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome
DD
ASD, ADHD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia
ASD
Support
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
ASD
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
GEN880R003
missense_variant
c.7516G>A
p.Gly2506Arg
De novo
GEN880R004
missense_variant
c.805C>T
p.Arg269Trp
De novo
GEN880R005
missense_variant
c.799A>G
p.Thr267Ala
De novo
Common
No Common Variants Available
