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Relevance to Autism

Rare de novo missense variants in the MED12L gene have been observed in ASD probands from simplex families (Iossifov et al., 2014; Yuen et al., 2017). Nizon et al., 2019 described a cohort of seven individuals harboring MED12L variants that presented with developmental delay/intellectual disability; furthermore, four of these individuals also presented with autism spectrum disorder/autistic features.

Molecular Function

The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Recent Recommendation
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional d...
DD, ID
ASD or autistic features

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1090R001 
 missense_variant 
 c.3743G>A 
 p.Arg1248Lys 
 De novo 
 NA 
 Simplex 
 GEN1090R002 
 missense_variant 
 c.82G>A 
 p.Asp28Asn 
 De novo 
 NA 
 Simplex 
 GEN1090R003 
 copy_number_gain 
  
  
 De novo 
 NA 
 Simplex 
 GEN1090R004 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN1090R005 
 copy_number_gain 
  
  
 Unknown 
  
  
 GEN1090R006 
 stop_gained 
 c.5992C>T 
 p.Gln1998Ter 
 Unknown 
  
  
 GEN1090R007 
 frameshift_variant 
 c.1747dup 
 p.Ser583PhefsTer8 
 De novo 
 NA 
  
 GEN1090R008 
 splice_site_variant 
 c.4374-1G>A 
  
 Unknown 
  
  
 GEN1090R009 
 splice_site_variant 
 c.4686-1G>A 
  
 De novo 
 NA 
  
 GEN1090R010 
 missense_variant 
 c.2001G>C 
 p.Glu667Asp 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion
 8
 
3
Deletion
 1
 

No Animal Model Data Available

 

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