HELP     Sign In
Search

Relevance to Autism

Three de novo missense variants in the MEGF11 gene were identified in ASD probands from the Simons Simplex Collection (Sanders et al., 2012; O'Roak et al., 2012) and the Autism Sequencing Consortium (De Rubeis et al., 2014). Two of these variants were later determined to be postzygotic mosaic mutations (PZMs) in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 10/84,448 expected; hypergeometric P-value of 2.0E-03).

Molecular Function

May regulate the mosaic spacing of specific neuron subtypes in the retina through homotypic retinal neuron repulsion.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN930R001 
 missense_variant 
 c.2731C>T 
 p.Arg911Cys 
 De novo 
 NA 
 Simplex 
 GEN930R002 
 missense_variant 
 c.2306C>T 
 p.Thr769Ile 
 De novo 
 NA 
 Simplex 
 GEN930R003 
 missense_variant 
 c.2066T>C 
 p.Ile689Thr 
 De novo 
 NA 
  
 GEN930R004 
 stop_gained 
 c.1155G>A 
 p.Trp385Ter 
 Familial 
 Paternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Deletion-Duplication
 11
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.