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Relevance to Autism

This gene was identified by TADA (transmission and de novo association) analysis of a combined dataset from the Simons Simplex Collection (SSC) and the Autism Sequencing Consortium (ASC) as a gene strongly enriched for variants likely to affect ASD risk with a false discovery rate (FDR) of <0.1 (Sanders et al., 2015); among the variants identified in this gene was one de novo loss-of-function (LoF) variant.

Molecular Function

This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
ASD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN765R001 
 frameshift_variant 
 1026+A (delT) 
 342-! 
 De novo 
  
 Simplex 
 GEN765R002 
 missense_variant 
 c.706G>A 
 p.Val236Ile 
 De novo 
  
 Simplex 
 GEN765R003 
 missense_variant 
 c.562G>A 
 p.Ala188Thr 
 De novo 
  
 Simplex 
 GEN765R004 
 frameshift_variant 
 c.1333_1334del 
 p.Asp445LeufsTer7 
 Unknown 
 Not maternal 
  
 GEN765R005 
 missense_variant 
 c.1411G>A 
 p.Val471Met 
 Familial 
  
 Simplex 
 GEN765R006 
 missense_variant 
 c.1411G>A 
 p.Val471Met 
 Familial 
  
 Simplex 
 GEN765R007 
 missense_variant 
 c.1486G>A 
 p.Glu496Lys 
 Familial 
  
 Simplex 
 GEN765R008 
 frameshift_variant 
 c.490dupT 
 p.Tyr164fs 
 Familial 
 Paternal 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 5
 

No Animal Model Data Available

No PIN Data Available
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