Summary Statistics:
Gene Score: 4
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.
References
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
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
Integrating de novo and inherited variants in 42
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
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
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
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
Genome-wide detection of tandem DNA repeats that are expanded in autism
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
GEN880R001
missense_variant
c.1409G>C
p.Arg470Thr
De novo
GEN880R002
missense_variant
c.1127G>A
p.Arg376Lys
De novo
Simplex
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
GEN880R006
missense_variant
c.4900G>A
p.Glu1634Lys
De novo
GEN880R007
stop_gained
c.2094G>A
p.Trp698Ter
Familial
Paternal
Simplex
GEN880R008
missense_variant
c.7739G>A
p.Gly2580Glu
De novo
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
GEN880R012
minisatellite
Unknown
Simplex
GEN880R013
missense_variant
c.805C>T
p.Arg269Trp
De novo
Unknown
GEN880R014
missense_variant
c.7516G>A
p.Glu2506Lys
Unknown
GEN880R015
synonymous_variant
c.7578A>G
p.Glu2526%3D
Unknown
GEN880R016
missense_variant
c.2794C>T
p.Arg932Trp
De novo
GEN880R017
splice_region_variant
c.5176-8G>C
De novo
GEN880R018
stop_gained
c.7006C>T
p.Pro2336Ser
De novo
GEN880R019
synonymous_variant
c.3765C>T
p.Cys1255%3D
De novo
Multiplex
GEN880R020
missense_variant
c.4012G>A
p.Asp1338Asn
De novo
Simplex
GEN880R021
missense_variant
c.4246G>A
p.Val1416Ile
De novo
GEN880R022
missense_variant
c.6570G>C
p.Glu2190Asp
De novo
GEN880R023
missense_variant
c.6884G>A
p.Gly2295Glu
De novo
GEN880R024
missense_variant
c.7615G>A
p.Gly2539Arg
Unknown
Simplex
GEN880R025
missense_variant
c.3145G>A
p.Gly1049Ser
Unknown
GEN880R026
missense_variant
c.4205C>G
p.Thr1402Arg
De novo
Simplex
No Common Variants Available
3
Deletion-Duplication
23
3
Deletion-Duplication
17
No Interactions Available
