MEGF11
Homo sapiens
Gene Name: multiple EGF like domains 11
Aliases:
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant--Functional
Aliases:
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant--Functional
Summary Statistics:
ASD Reports: 9
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 3
ASD Reports: 9
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 3
Evidence score: 3
| Associated Disorders: |
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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
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
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
